Appendix 1: Characteristics of the studies included in the final 61 retrieved papers
Study, year
Participants and genetic
(country)
condition
Baider et al. 1999
230 healthy women with at
(Israel)
Study type
Aim of study
Validated Outcome measure
measure
To assess the
Brief Symptom Inventory
least one first-degree relative
psychological distress of
(BSI)
diagnosed with breast cancer
a sample of women who
Impact of Events Scale (IES)
who attended a conference
attended a conference
organised by the Israel Cancer
organised by the Israel
Association.
Cancer Association.
Benkendorf et al.
238 healthy (no personal
1997 (USA)
Non-validated outcome
Survey
Survey
To describe levels of
Knowledge about genetic
Attitudes about ethical issues
history of cancer) first-degree
agreement versus
testing for inherited cancer
in genetic testing
relatives of women (18 to 75
disagreement with
Life Orientation Test (LOT)
years) with breast or ovarian
statements reflecting the
Monitoring Blunting Style
cancer
ethical issues of
Scale (MBSS) see also Miller
autonomy and
Behavioural Style Scale
confidentiality. To
identify the
characteristics of these
women that correlated
1
with particular attitudes.
Berkenstadt et al.
165 individuals who completed
1999 (Israel)
Before and after
To develop a reliable
Perceived Personal Control
counseling at Institute of
measure of perceived
(PPC)
Human Genetics at Sheba
personal control over a
Medical Centre excluded
genetic problem and
marital counseling for
investigate its validity for
consanguineous couples
the assessment of
genetic counseling
outcomes
Biesecker et al.
172 adults (18 years and over)
Prospective follow-
To identify socio-
Center for Epidemiologic
2000 (USA)
in families previously enrolled
up
demographic,
Studies Depression-Scale
in a familial cancer study with a
psychological and family
(CES-D)
risk-conferring mutation in
variables that
Family Environment Scale
BRCA1/2.
characterise members
(FES)
of hereditary breast and
Life Orientation Test (LOT)
ovarian cancer families
Rosenberg Self-Esteem
who are more likely to
Scale
choose to undergo
Spiritual Well-Being Scale
2
predictive testing
(SWBS)
following pre-test
education and
counselling.
Bowen et al.
357 women (18 to 74 years)
2002 (USA)
Randomised trial
To test the effects of two
Beliefs About Breast Cancer
Interest in genetic testing for
with some familial history of
breast cancer risk
Genetic Testing
breast cancer risk
breast cancer (any relative) but
counselling methods
Modified Tolerance for
no family history indicative of
(genetic counselling and
Ambiguity Scale (TFA)
autosomal dominant genetic
group counselling) on
mutation.
interest in pursuing
genetic testing in
women with a family
history of breast cancer
Brain et al, 1999
833 women (17 to 77 years) at
(UK)
Randomised trial
To clarify the
Breast Cancer Worry Scale
risk of breast cancer with a first
relationship between
Perceived Risk of Breast
degree relative diagnosed with
anxiety and adherence
Cancer
breast cancer under 50 years,
to breast self-
State-Trait Anxiety Inventory
a first-degree relative with
examination by
(STAI)
bilateral cancer at any age and
comparing the impact of
Breast Self-Examination
3
second-degree relative with
general anxiety with that
breast cancer.
of cancer-specific
anxiety of breast selfexamination frequency.
Brain et al, 2000
735 women (17 to 77 years) at
(UK)
Randomised trial
To determine the
Breast Cancer Worry Scale
Knowledge of Familial Breast
risk of breast cancer with a first
psychological benefits
Patient Satisfaction with
Cancer
degree relative diagnosed with
and costs of receiving
Genetic Counselling
breast cancer under 50 years,
genetic assessment.
Perceived Risk of Breast
a first-degree relative with
Cancer
bilateral cancer at any age and
State-Trait Anxiety Inventory
second-degree relative with
(STAI)
breast cancer.
Brain et al, 2005
27 individuals (14 women and
(UK)
Randomised trial
To explore the process
Decision making process
12 men) from families in which
of extended vs
General Health
a HNPCC gene mutation had
shortened genetic
Questionnaire (GHQ)
been identified.
counselling protocols
Knowledge about genetic
and compare their
testing for inherited cancer
impact on psychological
(HNPCC)
and decision-making
Satisfaction with Decision
4
outcomes in individuals
Scale (to have testing)
eligible for HNPCC
predictive testing.
To describe two
Measure of Counselees’
nurses, 16 licensed practical
instruments designed to
Knowledge of Down
nurses, 46 special education
measure, in an objective
Syndrome
teachers, 16 graduate
manner, the genetic
students, 8 parents of children
information counselees
with Down syndrome)
have before and after
Braitman &
126 individuals (40 student
Antley. 1978
(USA)
Survey
counselling
To evaluate women’s
Hospital Anxiety and
Knowledge of invasive
undergoing amniocentesis or
reasons for having an
Depression Scale (HADs)
procedures Level of anxiety
chorionic villus sampling at 10
invasive procedure, their
Impact of Event Scale (IES)
Satisfaction with information
to 13 weeks gestation
knowledge, how
Cederholm et al.
94 pregnant women
1999 (Sweden)
Randomised trial
provided
information was
obtained, their
satisfaction with this
information, their
concerns about
5
complications and
psychological reactions
and distress evoked by
the procedure.
5. Cella et al. 2002
(USA)
158 women one-month after
Survey
To develop a brief,
Hopkins Symptom Checklist
receiving genetic test results
practical, targeted
(HSCL-25)
for BRCA1/2
assessment of concerns
Impact of Event Scale (IES)
and psychosocial issues
Multidimensional Impact of
associated with genetic
Cancer Risk Assessment
testing for cancer risk
(MICRA)
and compared it with
existing alternatives.
Collins et al.
114 individuals who received
2005 (Australia)
predictive genetic testing for
and preventive
surgery Beliefs about
HNPCC at one of five familial
behaviours during 12
screening
cancer clinics.
months after predictive
Risk perception
genetic testing for
Screening behaviours
Before and after
To assess screening
Impact of Event Scale (IES)
Beliefs about prophylactic
HNPCC in an Australian
clinical cohort.
6
Decruyenaere et
72 adults (18 years and over)
Prospective follow-
To identify the socio-
Beck Depression Inventory
al. 1995
who applied for a predictive
up
demographic description
(BDI)
(Belgium)
test for Huntington’s Disease
of predictive test for
Minnesota Multiphasic
Huntington’s Disease
Personality Inventory (MMPI)
applicants, their
plus supplementary ego
subjective evaluation of
strength scale
the risk and their
Spielberger State Trait
motives for requesting
Anxiety Inventory (STAI)
the predictive test
Utrechtse Coping List (UCL)
Decruyenaere et
69 individuals with a parent
Prospective follow-
To gain more insight
Beck Depression Inventory
al. 1999
affected with Huntington’s
up
into pre-test
(BDI)
(Belgium)
Disease and received a
psychological
Minnesota Multiphasic
predictive test result
functioning of people
Personality Inventory (MMPI)
who applied for
plus supplementary ego
predictive testing for
strength scale
Huntington’s Disease
Spielberger State Trait
Anxiety Inventory (STAI)
De Marco et al.
61 women undergoing
counselling and testing for
Survey
To conduct a
Genetic Counseling
psychometric analysis of
Satisfaction Scale (GCSS)
7
2004 (USA)
hereditary breast-ovarian
a new satisfaction
cancer (BRCA1/2)
measure, the Genetic
Counseling Satisfaction
Scale, with a sample of
women participating in a
no-cost cancer genetic
counselling and testing
program
Denayer et al,
71 adults (18 years and over)
1996 (Belgium)
Survey
To evaluate whether the
Health Orientation Scale
who had their carrier status for
CF carrier status has
Spielberger State and Trait
cystic fibrosis determined
any lasting effect on
Anxiety (STAI)
anxiety and on self-
Tennessee Self-Concept
concept at least one-
Scale
year after the disclosure
of the test-result.
Donovan et al,
220 women awaiting routine
2000 (USA)
medical services
Survey
To knowledge of breast
Knowledge about breast
Interest in genetic testing
cancer and cancer
cancer
Perception of risk
genetics and their
Knowledge about genetic risk
perceptions of genetic
for breast cancer
8
testing and personal
Perceptions of the Benefits,
risk.
Limitations and Risks of
Genetic Testing
Dorval et al, 2000
65 individuals from families
(USA)
Before and after
To examine the ability of
Brief Symptom Inventory
Anticipated and actual
with Li-Fraumeni cancer
individuals undergoing
(BSI)
reaction to genetic test
syndromes and hereditary
genetic testing for
Global Severity Index (GSI)
results
breast-ovarian cancer
cancer susceptibility to
of the Symptom-Checklist-
susceptibility.
accurately anticipate
90-Revised (SCL-90-R)
emotional reactions to
disclosure of their test
result.
Drake et al. 1999
38 individuals, 21 women of
(Canada)
Before and after
To develop and
Decisional Conflict Scale
Acceptability of decision aid
advanced maternal age (35
evaluate a decision aid
(DCS)
Choice predisposition for
years or over) and 17 spouses
designed to prepare
Modified Maternal Serum
prenatal testing
patients of advanced
Screening Knowledge
maternal age for
Questionnaire (MSSKQ)
counselling about
Spielberger State and Trait
prenatal diagnostic
Anxiety (STAI)
9
testing.
Erblich et al.
77 individuals in total: 30
2005 (USA)
Survey
To describe the
Breast Cancer Genetic
women including women who
development and
Counselling Knowledge
had undergone breast cancer
validation of a
Questionnaire (BCGKQ-27)
genetic counselling and 47
questionnaire to
Knowledge Scale about
hospital employees (26 nurses
measure the knowledge
Breast Cancer and
and 19 administrative staff)
of women who undergo
Hereditary
breast cancer genetic
counselling.
Fanos et al, 2001
40 adults (37 female and 3
(USA)
Survey
To assess
Hopkins Symptoms Checklist
Attitudes to genetic testing
brothers) with X-linked severe
understanding of the
(HSCL)
Knowledge of condition
combined immunodeficiency.
genetics of x-linked
Perception of carrier status
severe combined
immunodeficiency in
adults from families who
had enrolled in our
protocols and attended
a family workshop.
10
Freyer et al. 1999
77 patients treated for either
(France)
Survey
To perform
Hospital Anxiety and
sporadic or familial or were at
psychometric and
Depression Scale (HADS)
risk for medullary thyroid
quality of life
Subjective Quality of Life
carcinoma
measurements in a
Profile (SQLP)
population of individuals
belonging to medullarythyroid carcinoma
families
Fries et al, 2004
57 high-risk patients for
Prospective follow-
To assess the outcome
Brief Symptom Inventory
(USA)
inherited breast or ovarian
up
of accelerated patient
(BSI)
surveillance in patients
Profile of Mood States
at high risk for inherited
(POMS)
cancer.
breast or ovarian
cancer.
Furr & Kelly 1999
330 European American adults
(USA)
Geller et al. 1993
To develop a uni-
Genetic Knowledge Index
(over 18 years) randomly
dimensional index of
(GKI)
selected from a US population
genetic knowledge
1140 physicians (obstetricians,
paediatricians, internists, family
Survey
Survey
To develop a modified
modified Tolerance for
tolerance for ambiguity
Ambiguity Scale (TFA)
11
(USA)
practitioners and psychiatrists)
scale to elicit physicians’
in USA
knowledge and attitudes
about genetic testing
and determine its
psychometric properties.
To determine the
relationship of the TFA
scale with physicians’
demographic
characteristics, their
training and several
behavioural variables
including religiosity
Grosfeld et al.
47 parents (22 parental
Prospective follow-
To explore the
General (Global) Severity
2000 (The
couples and 3 single parents)
up
psychological reactions
Index (GSI) of the Symptom
Netherlands)
of children (newborn to 14
displayed by parents of
Check List-90 (SCL90)
years of age) who had a
their children’s DNA test
Impact of Event Scale (IES)
genetic test for the cancer
results.
Spielberger State Trait
disorder multiple endocrine
Anxiety Inventory (STAI)
12
neoplasia type 2.
Gwyn et al, 2003
518 women (50 years of age
(USA)
and over) who had undergone
women due for routine
for breast cancer
a screening mammogram 12 to
mammography would
Interest in genetic testing
14 months before the study but
want testing for breast
no prior history of breast
cancer susceptibility and
cancer, abnormal mammogram
what factors might
or signs of breast cancer.
impact on their decision
Survey
To examine whether
Breast Cancer Worry
Awareness of genetic testing
to pursue testing.
Hailey et al, 2000
51 women with (26) or without
(USA)
Survey
To learn about the
Anticipated impact of results
(25) a first-degree relative with
impact of having a first-
Assessment of benefits and
breast cancer.
degree relative for
risk of breast cancer testing
women not involved with
Beck Depression Inventory
a formal breast cancer
(BDI)
prevention program.
(Breast) Cancer Attitude
Perception of risk
Inventory (CAI) and Anxiety
sub-scale (BCANX)
Impact of Event Scales (IES)
Harris et al,
75 patients (16 to 38 years)
Survey
To assess the
Spielberger Stait-Trait
Feelings about the
13
1996 (UK)
receiving routine antenatal
acceptability of
Anxiety Inventory (STAI)
pregnancy and the baby
care in a two-partner training
integrating cystic fibrosis
Knowledge of cystic fibrosis
practice offered carrier testing
carrier testing into
and factors influencing
for cystic fibrosis using a
antenatal care by
decision to have test
computer protocol.
general practitioners at
the first booking
appointment.
To explore women’s
Breast Cancer Worry
participating general practices
expectations of cancer
General Health
to the regional genetics
genetic services and the
Questionnaire (GHQ)
department for breast cancer
results of a trial
Medical Interview
genetic risk counselling. No
assessing women’s
Satisfaction Scale (MISS)
symptoms or diagnosis of
satisfaction with a new
breast or ovarian cancer
model of service
Holloway et al,
374 women referred from
2004 (UK)
Survey
delivery.
Hurt et al. 2001
17 first-degree relatives (18
(USA)
Survey
To measure
Center for Epidemiological
Family history form
years and over) of women
psychological distress
Studies Depression Scale
Personal history form
diagnosed with breast cancer
and the feasibility of a
(CES-D)
psychological
Impact of Events Scale (IES)
14
intervention to reduce
Miller Behavioral Style Scale
distress in patients
(MBBS) see also Monitoring
undergoing risk
Blunting Behavioural Style
assessment.
Scale
Profile of Mood States
(POMS) brief form
Katapodi et al.
42 studies (64,276
Systematic review
To synthesise research
2004 (USA)
participants)
and meta-analysis
findings of studies on
Instruments for perceived risk (validated and non-validated)
perceived breast cancer
risk. The study
examined demographic,
psychological, and
physiological variables
as predictors of
perceived breast cancer
risk and the relationship
between perceived
breast cancer risk and
breast cancer
prevention and early
15
detection.
Keller et al, 2002
65 individuals with colorectal
(Germany)
Survey
To explore distress and
Breast Cancer Worry
Ability to cope
cancer (35) and unaffected but
health beliefs before
(modified for colorectal)
Attitudes to genetic testing
at-risk (30) who participated in
and after
Giessener Complaints
Evaluation of counselling
interdisciplinary counselling
comprehensive
Inventory (GBB)
Health beliefs
provided by human geneticists,
interdisciplinary
Hospital Anxiety and
Perception of control
surgeons and psycho-
counselling in families at
Depression Scale (HADS)
Threat of HNPCC
oncologists before genetic
risk for HNPCC.
Impact of Events Scale (IES)
Vulnerability
testing.
Medical Outcomes Survey
Short-Form-12
Kent et al. 2000
69 asymptomatic women
(UK)
Survey
To assess changes in
Hospital Anxiety and
Perceived risk Thought
referred to a breast cancer
perceived risk, cognitive
Depression Scale (HADS)
content and intrusiveness of
family history clinic.
intrusions and distress
Psychological Consequences
the thoughts
in women undergoing
Questionnaire (PCQ)
counselling for familial
risk of developing breast
cancer.
Kromberg et al,
89 individuals (30 at-risk for
Intervention
To investigate the
Beck Depression Inventory
16
1999 (South
predictive testing; 7 for
utilisation and sequelae
(BDI)
Africa)
prenatal testing and 52 for
of the predictive,
Life Coping Skills
diagnostic testing)
prenatal and diagnostic
services offered to
families with suspected
Huntington’s disease.
Lodder et al,
28 men requesting
2001 (The
Netherlands)
Survey
To analyse distress in
Hospital Anxiety and
BRCA1/BRCA2 testing and
males at risk of carrying
Depression Scale (HADS)
their partners.
a BRCA1/BRCA2
Impact of Event Scale (IES)
mutation.
Life Orientation Test (LOT)
Symptom Checklist-90 (SCL90)
Ludman et al.
91 women awaiting medical
1999 (USA)
Survey
To assess female
Knowledge about genetic
Beliefs about access to
appointments at a primary care
primary care patients’
testing for inherited cancer
BRCA1 testing Intention to
clinic.
knowledge about breast
(Inherited Breast Cancer and
be tested
cancer genetics and
BRCA1 Testing)
attitudes toward genetic
testing.
Matthews et al.
102 patients attending a clinic
Survey
To assess general
Breast Cancer Worry
Cancer Risk Assessment
17
2002 (USA)
(visits with both genetic and
psychological distress
Center for Epidemiological
Program Evaluation
psychological counsellors) at a
among high-risk patients
Studies Depression Scale
Global Emotional Functioning
cancer risk program
undergoing
brief form (CES-D)
Health status
predisposition
Impact of Events Scale (IES)
counselling and/or
testing for inherited
cancers in a cancer risk
clinic. To identify the
outcome of the pilot
program. To identify
factors associated with
increased acceptance of
psychological services.
Meiser et al,
333 women waiting initial
2000 (Australia)
Survey
To assess intention to
General Health
Accuracy of breast cancer
appointments for risk
undergo prophylactic
Questionnaire (GHQ)
risk perception
assessment, advice about
bilateral mastectomy
Impact of Event Scale (IES)
Intention to undergo
surveillance, and prophylactic
and psychologic
options at one of 14 familial
determinants in
cancer clinicians
unaffected women at
prophylactic mastectomy
increased risk of
18
developing hereditary
breast cancer.
Meiser &
12 studies. Total number of
Systematic review
To synthesise the
General Health
Accuracy of perceived risk of
Halliday. 2002
participants not known.
and meta-analysis
published empirical
Questionnaire-12 (GHQ12)
developing cancer
literature of prospective
General Health
and randomised
Questionnaire-30 (GHQ30)
controlled trials that
Profile of Mood State
include at least one of
(POMS)
the following outcomes
Spielberger State Trait
as variables:
Anxiety Index-State (STAI-
Psychological distress
State)
(Australia)
(Generalised anxiety;
Depression; Breast
cancer Anxiety);
Accuracy of perceived
risk of developing
cancer; Breast cancer
genetics knowledge;
Breast cancer screening
19
uptake
Michie et al.
35 patients attending a
Prospective follow-
To determine the validity
Spielberger State Trait
Counsellor-defined important
1997a (UK)
regional genetics centre
up
of using genetic
Anxiety Inventory-State
information
excluding those attending for a
counsellors reports of
(STAI-State)
Patient-defined important
pre-determined package of
information given in
information
counselling, those who had
genetic consultations as
Patients hopes and concerns
previously visited the centre,
the basis for a measure
Patient recall of information
non-English speakers and
of patient recall.
patients without a telephone
Michie et al.
32 patients referred to a
1997b (UK)
regional genetics centre
Survey
To categorise the key
Spielberger State Trait
Knowledge questionnaire
points given in genetic
Anxiety Inventory-State
Meeting of expectations
counselling, assess the
(STAI-State)
Satisfaction with information
amount and type of
information recalled,
and examine the
relationship between
counsellees‘ knowledge,
satisfaction with
information received,
20
the meeting of
expectations, concern
and anxiety. To
measure how much and
what types of
information given during
a genetic counselling
session are recalled and
whether this is
influenced by receiving
a summary letter.
Miller et al, 2005
279 women (18 years and
(Greece)
Intervention
To evaluate whether an
Knowledge Scale about
Intention to obtain genetic
over) who telephoned a region
educational intervention
Breast (and Ovarian) Cancer
testing Perceived risk
cancer information service
would (a) for average
and Hereditary
Satisfaction with service
expressing concerns about
risk women increase
Monitoring-Blunting Style
their risks for breast or ovarian
knowledge and
Scale (MBSS)
cancer
decrease risk
perceptions and
intentions to obtain
genetic testing (b) for
21
high risk women
increase their intention
to obtain genetic testing,
greater risk-related
knowledge and greater
risk perceptions.
Peters et al, 2000
31 parents caring for children
Survey
with Proteus syndrome
To describe the
Beck Depression Inventory
Parental confidence in the
depression status in
(BDI)
diagnosis of Proteus
parents of individuals
syndrome
with Proteus syndrome
Pieterse et al,
200 individuals (18 years or
2005 (The
Netherlands)
Survey
To describe the
Impact of Events Scale (IES)
older) referred to a department
construction and
Quality of Care Through the
of medical genetics for
psychometric properties
Patients’ Eyes (QUOTE)-
hereditary cancer.
of the QUOTE-geneCA, a
geneCA
counselee-centred
State-Trait Anxiety Inventory
instrument intended to
(STAI)
measure the needs and
Threatening Medical
preferences in genetic
Situation Inventory (TMSI)
counselling for
see also Monitoring-Blunting
22
Read et al, 2005
323 individuals affected by
(USA)
genetic diseases
Survey
hereditary cancer.
Style Scale (MBSS)
To develop and
Psychological Adaptation to
psychometrically
Genetic Information Scale
evaluate the
(PAGIS)
Psychological
Adaptation to Genetic
Information Scale
(PAGIS)
Ritvo et al, 2000
60 women given familial
(Canada)
Survey
To report the
Center for Epidemiological
genetic evaluations for ovarian
psychological responses
Studies Depression Scale
cancer risk at their first
of women given familial
(CES-D)
appointment.
genetic evaluations for
Life Orientation Test (LOT)
ovarian cancer risk
Medical Outcomes Study
Social Support Scale
(MOSS)
State-Trait Anxiety Inventory
(STAI)
Rose et al. 1999
122 patients (between 20 and
34 years) registered at one
Survey
To evaluate the
Spielberger State-Trait
Knowledge questionnaire
feasibility and
Anxiety Inventory (STAI)
Patient views on reasons for
23
(UK)
family practice
acceptability of taking
attendance, awareness and
routine family histories
understanding and
and subsequent genetic
acceptability of service to
counselling
patients
Schwartz et al,
289 high-risk women (25 years
Prospective follow-
To prospectively
Breast (and ovarian) Cancer
2003 (USA)
of age and over) who had
up
examine the impact of
Worry
genetic counselling and testing
BRCA1/2 testing on the
Hopkins Symptom Checklist
for alterations in the BRCA1/2
use of prophylactic
(HSL)
genes
oopherectomy and
Impact of Events Scale (IES)
ovarian cancer
State Anxiety Inventory
screening
(STAI)
To evaluate the impact
Functional Assessment of
Patient reports of
Perceived risk
Schwartz et al.
194 newly diagnosed patients
2004 (USA)
with breast cancer who had not
on surgical decision-
Cancer Therapy (FACT)
recommendation for: genetic
yet received definitive surgical
making of pre-treatment
Impact of Event Scale (IES)
testing and surgery
treatment and who had at least
genetic counselling and
Spielberger State-Trait
Treatment decisions
a 10% prior probability of
BRCA1/2 testing among
Inventory-State (STAI-State)
carrying a BRAC1/2 mutation.
breast cancer patients
Survey
at high risk for carrying
24
a mutation.
Schwartz et al,
211 patients newly diagnosed
2005 (USA)
Survey
To evaluate factors
Functional Assessment of
with breast cancer who had not
associated with the
Cancer Therapy-General
yet received definitive local
decision to undergo
(FACT)
breast cancer treatment and
BRCA1/2 gene testing
Impact of Events Scale (IES)
who had a family history
at the time of initial
State Anxiety Scale of the
consistent with hereditary
breast cancer diagnosis.
State Trait Anxiety Inventory
breast cancer.
(STAI)
To use clients’ accounts
Audit Tool for Genetic
of a genetic service in Wales
and factor analysis to
Services
with any type of genetic
develop a robust
condition or concern
assessment and audit
Skirton et al.
97 clients (18 years and over)
2005 (UK)
Survey
tool related to outcomes
of genetic services.
Stalmeier et al.
51 healthy women who had
1999 (The
Netherlands)
Before and after
To evaluate the shared
Breast cancer (hereditary)
family histories of breast
decision making
concern
cancer referred for breast
program for women
Desire to participate in the
cancer risk counselling and
suspected to have a
shared decision making
genetic predisposition to
program
25
screening.
breast cancer in terms
Emotional reaction to the
of practicality, beneficial
program information Intention
effects and patient
to act upon shared decision
satisfaction.
making program
Risk comprehension and
subjective knowledge of
women in the shared
decision making program
Satisfaction with shared
decision making program
Shared decision making
program rationale
acceptability
32. Stalmeier et al.
368 patients at high risk for
2005 (The
Netherlands)
Survey
To investigate which
Center for Epidemiologic
Attitudes to genetic testing
breast and ovarian cancer,
psychological factors
Studies Depression-Scale
and the impact of the results
awaiting a genetic test result,
play a role when
(CES-D)
on their lives
and facing the choice between
patients evaluate their
Decision Evaluation Scales:
Treatment choice; strength of
prophylactic surgery or
medical treatment
Decision Control Scale;
treatment preference and
screening.
choices.
Satisfaction-Uncertainty
strength of preference of the
Scale and Informed Choice
specialist; partner
26
Scale
agreement; subjective
Impact of Event Scale (IES)
knowledge; amount of
State Trait Anxiety (STAI)
information; satisfaction with
quality of information;
negative emotional reaction
to information; need for
support/advice
33. Steinbart et al.
2001 (USA)
34. Trask et al. 2001
(USA)
11 people at risk for familial
To assess the effects of
Hospital Anxiety and
Alzheimer disease and
DNA testing for early-
Depression Scale (HADS)
frontotemporal dementia who
onset familial Alzheimer
Impact of Event Scale (IES)
requested genetic testing after
disease and
an invite letter
frontotemporal dementia
205 women referred to the
Survey
Before and after
To develop and validate
Medical Outcomes Short-
breast and ovarian risk
a measure designed to
Form Survey (SF-36)
evaluation program because
determine whether
Profile of Mood States
they have a family history of
patients attending a
(POMS)
breast or ovarian cancer in one
newly-founded breast
Worry Interference Scale
or more close relatives or other
and ovarian cancer risk
(WIS)
risk factors leading to a
evaluation clinic
perceived their cancer-
27
presumed increase risk profile
specific thoughts as
interfering with their
functioning in a number
of areas.
To explore long-term
Breast Cancer Worry – five
interviewed) unaffected women
psychosocial
items only
with a 25 to 50% risk of
consequences of
Body Image/Sexuality Scale
carrying a BRCA1/2 mutation
carrying a BRCA1/2
(BISS)
applying for genetic
mutation and to identify
Hospital Anxiety and
predisposition testing in a
possible risk factors for
Depression Scales (HADS)
Family Cancer Clinic
long-term psychological
Impact of Events Scale (IES)
distress
Openness to Discuss Cancer
van Oostrum et
65 (of these 51 also
al. 2003 (The
Netherlands)
Survey
Risk and test perceptions
in the Family Scale - adapted
Vadaparampil et
al. 2005
(USA)
19 studies and 2517
participants
Systematic review
To review the
Breast Cancer Worry Scale
instruments most
Brief Symptom Inventory
commonly used to
(BSI)
measure depression,
Centers for Epidemiologic
anxiety and distress and
Studies and Depression
summarise the reported
Scale (CES-D)
28
psychometric properties
General Health
to assess the
Questionnaire (GHQ)
psychological factors
Hospital Anxiety and
measured among
Depression Scales (HADS)
individuals at increased
Hopkins Symptoms
risk for hereditary
Checklist-25 (HSCL-25)
breast, ovarian or colon
Impact of Event Scale (IES)
cancer.
Profile of Mood State – short
form
State-Trait Anxiety Inventory
(STAI)
Wagner et al.
2000 (USA)
90 people from families in
Survey
To evaluate the effect
Self-rating Depression Scale
Attitude of mutation carriers
which BRCA1 or BRCA2 was
that an awareness of
(SDS)
towards the option of
detected previously.
being a BRCA1 or
prophylactic mastectomy and
BRCA2 mutation carrier
or oopherectomy
has on the attitude
towards prophylactic
surgery and on
developing depression
symptoms.
29
Watson et al.
2005 (UK)
293 women attending four
Survey
genetic clinics
To investigate the
Cancer Anxiety and
Expectations of service
impact of genetic
Helplessness Scale
Perception of risk
counselling on
(Breast) Cancer Worry Scale
management of breast
General Health
cancer risk in women
Questionnaire-12 item (GHQ-
attending Cancer Family
12)
Clinics.
Impact of Event Scale (IES)
Perceived barriers to
mammography
Health Beliefs Model
(screening and breast
cancer)
Spielberger State-Trait
Anxiety Inventory (STAI)
Wolraich et al.
121 participants: 101 patients
1986 (USA)
Case-control
To determine the
Medical Communication
Patient knowledge of genetic
(parents of children with
properties of an
Behaviour System (MCBS)
condition survey
disorders, children with
observation system that
Medical Interview
disorders, relatives concerned
was designed to be
Satisfaction Scale- modified
about having children similarly
used in assessing
(MISS)
affected, persons belonging to
situations involving
Roter Interactional Analysis
30
at risk ethnic groups, women of
multiple health-care
System (process not
advanced parental age)
providers and family
outcome measure)
evaluated by a genetic
units, in which the care
counseling service and 20
providers are dealing
unobserved ‘control’ patients.
with potentially stressful
information.
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Appendix 2: Characteristics of the studies included in the final 61 retrieved papers
Study, year
Participants and genetic
(country)
condition
Baider et al. 1999
230 healthy women with at
(Israel)
Study type
Aim of study
Validated Outcome measure
measure
To assess the
Brief Symptom Inventory
least one first-degree relative
psychological distress of
(BSI)
diagnosed with breast cancer
a sample of women who
Impact of Events Scale (IES)
who attended a conference
attended a conference
organised by the Israel Cancer
organised by the Israel
Association.
Cancer Association.
Benkendorf et al.
238 healthy (no personal
1997 (USA)
Non-validated outcome
Survey
Survey
To describe levels of
Knowledge about genetic
Attitudes about ethical issues
history of cancer) first-degree
agreement versus
testing for inherited cancer
in genetic testing
relatives of women (18 to 75
disagreement with
Life Orientation Test (LOT)
years) with breast or ovarian
statements reflecting the
Monitoring Blunting Style
cancer
ethical issues of
Scale (MBSS) see also Miller
autonomy and
Behavioural Style Scale
confidentiality. To
identify the
characteristics of these
37
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
women that correlated
with particular attitudes.
Berkenstadt et al.
165 individuals who completed
1999 (Israel)
Before and after
To develop a reliable
Perceived Personal Control
counseling at Institute of
measure of perceived
(PPC)
Human Genetics at Sheba
personal control over a
Medical Centre excluded
genetic problem and
marital counseling for
investigate its validity for
consanguineous couples
the assessment of
genetic counseling
outcomes
Biesecker et al.
172 adults (18 years and over)
Prospective follow-
To identify socio-
Center for Epidemiologic
2000 (USA)
in families previously enrolled
up
demographic,
Studies Depression-Scale
in a familial cancer study with a
psychological and family
(CES-D)
risk-conferring mutation in
variables that
Family Environment Scale
BRCA1/2.
characterise members
(FES)
of hereditary breast and
Life Orientation Test (LOT)
ovarian cancer families
Rosenberg Self-Esteem
38
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
who are more likely to
Scale
choose to undergo
Spiritual Well-Being Scale
predictive testing
(SWBS)
following pre-test
education and
counselling.
Bowen et al.
357 women (18 to 74 years)
2002 (USA)
Randomised trial
To test the effects of two
Beliefs About Breast Cancer
Interest in genetic testing for
with some familial history of
breast cancer risk
Genetic Testing
breast cancer risk
breast cancer (any relative) but
counselling methods
Modified Tolerance for
no family history indicative of
(genetic counselling and
Ambiguity Scale (TFA)
autosomal dominant genetic
group counselling) on
mutation.
interest in pursuing
genetic testing in
women with a family
history of breast cancer
Brain et al, 1999
833 women (17 to 77 years) at
(UK)
risk of breast cancer with a first
Randomised trial
To clarify the
Breast Cancer Worry Scale
relationship between
Perceived Risk of Breast
Breast Self-Examination
39
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
degree relative diagnosed with
anxiety and adherence
Cancer
breast cancer under 50 years,
to breast self-
State-Trait Anxiety Inventory
a first-degree relative with
examination by
(STAI)
bilateral cancer at any age and
comparing the impact of
second-degree relative with
general anxiety with that
breast cancer.
of cancer-specific
anxiety of breast selfexamination frequency.
Brain et al, 2000
735 women (17 to 77 years) at
(UK)
Randomised trial
To determine the
Breast Cancer Worry Scale
Knowledge of Familial Breast
risk of breast cancer with a first
psychological benefits
Patient Satisfaction with
Cancer
degree relative diagnosed with
and costs of receiving
Genetic Counselling
breast cancer under 50 years,
genetic assessment.
Perceived Risk of Breast
a first-degree relative with
Cancer
bilateral cancer at any age and
State-Trait Anxiety Inventory
second-degree relative with
(STAI)
breast cancer.
Brain et al, 2005
27 individuals (14 women and
Randomised trial
To explore the process
Decision making process
40
Study, year
Participants and genetic
Study type
Aim of study
Validated Outcome measure
(country)
condition
(UK)
12 men) from families in which
of extended vs
General Health
a HNPCC gene mutation had
shortened genetic
Questionnaire (GHQ)
been identified.
counselling protocols
Knowledge about genetic
and compare their
testing for inherited cancer
impact on psychological
(HNPCC)
and decision-making
Satisfaction with Decision
outcomes in individuals
Scale (to have testing)
Non-validated outcome
measure
eligible for HNPCC
predictive testing.
To describe two
Measure of Counselees’
nurses, 16 licensed practical
instruments designed to
Knowledge of Down
nurses, 46 special education
measure, in an objective
Syndrome
teachers, 16 graduate
manner, the genetic
students, 8 parents of children
information counselees
with Down syndrome)
have before and after
Braitman &
126 individuals (40 student
Antley. 1978
(USA)
Survey
counselling
Cederholm et al.
94 pregnant women
Randomised trial
To evaluate women’s
Hospital Anxiety and
Knowledge of invasive
41
Study, year
Participants and genetic
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
(country)
condition
1999 (Sweden)
undergoing amniocentesis or
reasons for having an
Depression Scale (HADs)
procedures Level of anxiety
chorionic villus sampling at 10
invasive procedure, their
Impact of Event Scale (IES)
Satisfaction with information
to 13 weeks gestation
knowledge, how
measure
provided
information was
obtained, their
satisfaction with this
information, their
concerns about
complications and
psychological reactions
and distress evoked by
the procedure.
6. Cella et al. 2002
(USA)
158 women one-month after
Survey
To develop a brief,
Hopkins Symptom Checklist
receiving genetic test results
practical, targeted
(HSCL-25)
for BRCA1/2
assessment of concerns
Impact of Event Scale (IES)
and psychosocial issues
Multidimensional Impact of
associated with genetic
Cancer Risk Assessment
testing for cancer risk
(MICRA)
42
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
and compared it with
existing alternatives.
Collins et al.
114 individuals who received
2005 (Australia)
predictive genetic testing for
and preventive
surgery Beliefs about
HNPCC at one of five familial
behaviours during 12
screening
cancer clinics.
months after predictive
Risk perception
genetic testing for
Screening behaviours
Before and after
To assess screening
Impact of Event Scale (IES)
Beliefs about prophylactic
HNPCC in an Australian
clinical cohort.
Decruyenaere et
72 adults (18 years and over)
Prospective follow-
To identify the socio-
Beck Depression Inventory
al. 1995
who applied for a predictive
up
demographic description
(BDI)
(Belgium)
test for Huntington’s Disease
of predictive test for
Minnesota Multiphasic
Huntington’s Disease
Personality Inventory (MMPI)
applicants, their
plus supplementary ego
subjective evaluation of
strength scale
the risk and their
Spielberger State Trait
motives for requesting
Anxiety Inventory (STAI)
43
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
the predictive test
Utrechtse Coping List (UCL)
Decruyenaere et
69 individuals with a parent
Prospective follow-
To gain more insight
Beck Depression Inventory
al. 1999
affected with Huntington’s
up
into pre-test
(BDI)
(Belgium)
Disease and received a
psychological
Minnesota Multiphasic
predictive test result
functioning of people
Personality Inventory (MMPI)
who applied for
plus supplementary ego
predictive testing for
strength scale
Huntington’s Disease
Spielberger State Trait
Anxiety Inventory (STAI)
De Marco et al.
61 women undergoing
2004 (USA)
Survey
To conduct a
Genetic Counseling
counselling and testing for
psychometric analysis of
Satisfaction Scale (GCSS)
hereditary breast-ovarian
a new satisfaction
cancer (BRCA1/2)
measure, the Genetic
Counseling Satisfaction
Scale, with a sample of
women participating in a
no-cost cancer genetic
44
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
counselling and testing
program
Denayer et al,
71 adults (18 years and over)
1996 (Belgium)
Survey
To evaluate whether the
Health Orientation Scale
who had their carrier status for
CF carrier status has
Spielberger State and Trait
cystic fibrosis determined
any lasting effect on
Anxiety (STAI)
anxiety and on self-
Tennessee Self-Concept
concept at least one-
Scale
year after the disclosure
of the test-result.
Donovan et al,
220 women awaiting routine
2000 (USA)
medical services
Survey
To knowledge of breast
Knowledge about breast
Interest in genetic testing
cancer and cancer
cancer
Perception of risk
genetics and their
Knowledge about genetic risk
perceptions of genetic
for breast cancer
testing and personal
Perceptions of the Benefits,
risk.
Limitations and Risks of
Genetic Testing
45
Study, year
Participants and genetic
(country)
condition
Dorval et al, 2000
65 individuals from families
(USA)
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
Before and after
To examine the ability of
Brief Symptom Inventory
Anticipated and actual
with Li-Fraumeni cancer
individuals undergoing
(BSI)
reaction to genetic test
syndromes and hereditary
genetic testing for
Global Severity Index (GSI)
results
breast-ovarian cancer
cancer susceptibility to
of the Symptom-Checklist-
susceptibility.
accurately anticipate
90-Revised (SCL-90-R)
emotional reactions to
disclosure of their test
result.
Drake et al. 1999
38 individuals, 21 women of
(Canada)
Before and after
To develop and
Decisional Conflict Scale
Acceptability of decision aid
advanced maternal age (35
evaluate a decision aid
(DCS)
Choice predisposition for
years or over) and 17 spouses
designed to prepare
Modified Maternal Serum
prenatal testing
patients of advanced
Screening Knowledge
maternal age for
Questionnaire (MSSKQ)
counselling about
Spielberger State and Trait
prenatal diagnostic
Anxiety (STAI)
testing.
Erblich et al.
77 individuals in total: 30
Survey
To describe the
Breast Cancer Genetic
46
Study, year
Participants and genetic
Study type
Aim of study
Validated Outcome measure
(country)
condition
2005 (USA)
women including women who
development and
Counselling Knowledge
had undergone breast cancer
validation of a
Questionnaire (BCGKQ-27)
genetic counselling and 47
questionnaire to
Knowledge Scale about
hospital employees (26 nurses
measure the knowledge
Breast Cancer and
and 19 administrative staff)
of women who undergo
Hereditary
Non-validated outcome
measure
breast cancer genetic
counselling.
Fanos et al, 2001
40 adults (37 female and 3
(USA)
Survey
To assess
Hopkins Symptoms Checklist
Attitudes to genetic testing
brothers) with X-linked severe
understanding of the
(HSCL)
Knowledge of condition
combined immunodeficiency.
genetics of x-linked
Perception of carrier status
severe combined
immunodeficiency in
adults from families who
had enrolled in our
protocols and attended
a family workshop.
Freyer et al. 1999
77 patients treated for either
Survey
To perform
Hospital Anxiety and
47
Study, year
Participants and genetic
Study type
Aim of study
Validated Outcome measure
(country)
condition
(France)
sporadic or familial or were at
psychometric and
Depression Scale (HADS)
risk for medullary thyroid
quality of life
Subjective Quality of Life
carcinoma
measurements in a
Profile (SQLP)
Non-validated outcome
measure
population of individuals
belonging to medullarythyroid carcinoma
families
Fries et al, 2004
57 high-risk patients for
Prospective follow-
To assess the outcome
Brief Symptom Inventory
(USA)
inherited breast or ovarian
up
of accelerated patient
(BSI)
surveillance in patients
Profile of Mood States
at high risk for inherited
(POMS)
cancer.
breast or ovarian
cancer.
Furr & Kelly 1999
330 European American adults
(USA)
Survey
To develop a uni-
Genetic Knowledge Index
(over 18 years) randomly
dimensional index of
(GKI)
selected from a US population
genetic knowledge
48
Study, year
Participants and genetic
(country)
condition
Geller et al. 1993
1140 physicians (obstetricians,
(USA)
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
Survey
To develop a modified
modified Tolerance for
paediatricians, internists, family
tolerance for ambiguity
Ambiguity Scale (TFA)
practitioners and psychiatrists)
scale to elicit physicians’
in USA
knowledge and attitudes
about genetic testing
and determine its
psychometric properties.
To determine the
relationship of the TFA
scale with physicians’
demographic
characteristics, their
training and several
behavioural variables
including religiosity
Grosfeld et al.
47 parents (22 parental
Prospective follow-
To explore the
General (Global) Severity
2000 (The
couples and 3 single parents)
up
psychological reactions
Index (GSI) of the Symptom
displayed by parents of
Check List-90 (SCL90)
of children (newborn to 14
49
Study, year
Participants and genetic
Study type
Aim of study
Validated Outcome measure
(country)
condition
Netherlands)
years of age) who had a
their children’s DNA test
Impact of Event Scale (IES)
genetic test for the cancer
results.
Spielberger State Trait
Non-validated outcome
measure
disorder multiple endocrine
Anxiety Inventory (STAI)
neoplasia type 2.
Gwyn et al, 2003
518 women (50 years of age
(USA)
and over) who had undergone
women due for routine
for breast cancer
a screening mammogram 12 to
mammography would
Interest in genetic testing
14 months before the study but
want testing for breast
no prior history of breast
cancer susceptibility and
cancer, abnormal mammogram
what factors might
or signs of breast cancer.
impact on their decision
Survey
To examine whether
Breast Cancer Worry
Awareness of genetic testing
to pursue testing.
Hailey et al, 2000
51 women with (26) or without
(USA)
Survey
To learn about the
Anticipated impact of results
(25) a first-degree relative with
impact of having a first-
Assessment of benefits and
breast cancer.
degree relative for
risk of breast cancer testing
women not involved with
Beck Depression Inventory
a formal breast cancer
(BDI)
Perception of risk
50
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
prevention program.
(Breast) Cancer Attitude
Inventory (CAI) and Anxiety
sub-scale (BCANX)
Impact of Event Scales (IES)
Harris et al,
75 patients (16 to 38 years)
1996 (UK)
Survey
To assess the
Spielberger Stait-Trait
Feelings about the
receiving routine antenatal
acceptability of
Anxiety Inventory (STAI)
pregnancy and the baby
care in a two-partner training
integrating cystic fibrosis
Knowledge of cystic fibrosis
practice offered carrier testing
carrier testing into
and factors influencing
for cystic fibrosis using a
antenatal care by
decision to have test
computer protocol.
general practitioners at
the first booking
appointment.
To explore women’s
Breast Cancer Worry
participating general practices
expectations of cancer
General Health
to the regional genetics
genetic services and the
Questionnaire (GHQ)
department for breast cancer
results of a trial
Medical Interview
genetic risk counselling. No
assessing women’s
Satisfaction Scale (MISS)
symptoms or diagnosis of
satisfaction with a new
Holloway et al,
374 women referred from
2004 (UK)
Survey
51
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
breast or ovarian cancer
model of service
delivery.
Hurt et al. 2001
17 first-degree relatives (18
(USA)
Survey
To measure
Center for Epidemiological
Family history form
years and over) of women
psychological distress
Studies Depression Scale
Personal history form
diagnosed with breast cancer
and the feasibility of a
(CES-D)
psychological
Impact of Events Scale (IES)
intervention to reduce
Miller Behavioral Style Scale
distress in patients
(MBBS) see also Monitoring
undergoing risk
Blunting Behavioural Style
assessment.
Scale
Profile of Mood States
(POMS) brief form
Katapodi et al.
42 studies (64,276
Systematic review
To synthesise research
2004 (USA)
participants)
and meta-analysis
findings of studies on
Instruments for perceived risk (validated and non-validated)
perceived breast cancer
risk. The study
examined demographic,
psychological, and
52
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
physiological variables
as predictors of
perceived breast cancer
risk and the relationship
between perceived
breast cancer risk and
breast cancer
prevention and early
detection.
Keller et al, 2002
65 individuals with colorectal
(Germany)
To explore distress and
Breast Cancer Worry
Ability to cope
cancer (35) and unaffected but
health beliefs before
(modified for colorectal)
Attitudes to genetic testing
at-risk (30) who participated in
and after
Giessener Complaints
Evaluation of counselling
interdisciplinary counselling
comprehensive
Inventory (GBB)
Health beliefs
provided by human geneticists,
interdisciplinary
Hospital Anxiety and
Perception of control
surgeons and psycho-
counselling in families at
Depression Scale (HADS)
Threat of HNPCC
oncologists before genetic
risk for HNPCC.
Impact of Events Scale (IES)
Vulnerability
testing.
Survey
Medical Outcomes Survey
Short-Form-12
53
Study, year
Participants and genetic
(country)
condition
Kent et al. 2000
69 asymptomatic women
(UK)
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
Survey
To assess changes in
Hospital Anxiety and
Perceived risk Thought
referred to a breast cancer
perceived risk, cognitive
Depression Scale (HADS)
content and intrusiveness of
family history clinic.
intrusions and distress
Psychological Consequences
the thoughts
in women undergoing
Questionnaire (PCQ)
counselling for familial
risk of developing breast
cancer.
Kromberg et al,
89 individuals (30 at-risk for
1999 (South
Africa)
Intervention
To investigate the
Beck Depression Inventory
predictive testing; 7 for
utilisation and sequelae
(BDI)
prenatal testing and 52 for
of the predictive,
Life Coping Skills
diagnostic testing)
prenatal and diagnostic
services offered to
families with suspected
Huntington’s disease.
Lodder et al,
28 men requesting
2001 (The
BRCA1/BRCA2 testing and
Survey
To analyse distress in
Hospital Anxiety and
males at risk of carrying
Depression Scale (HADS)
54
Study, year
Participants and genetic
(country)
condition
Netherlands)
their partners.
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
a BRCA1/BRCA2
Impact of Event Scale (IES)
mutation.
Life Orientation Test (LOT)
Symptom Checklist-90 (SCL90)
Ludman et al.
91 women awaiting medical
1999 (USA)
Survey
To assess female
Knowledge about genetic
Beliefs about access to
appointments at a primary care
primary care patients’
testing for inherited cancer
BRCA1 testing Intention to
clinic.
knowledge about breast
(Inherited Breast Cancer and
be tested
cancer genetics and
BRCA1 Testing)
attitudes toward genetic
testing.
Matthews et al.
102 patients attending a clinic
2002 (USA)
Survey
To assess general
Breast Cancer Worry
Cancer Risk Assessment
(visits with both genetic and
psychological distress
Center for Epidemiological
Program Evaluation
psychological counsellors) at a
among high-risk patients
Studies Depression Scale
Global Emotional Functioning
cancer risk program
undergoing
brief form (CES-D)
Health status
predisposition
Impact of Events Scale (IES)
counselling and/or
testing for inherited
cancers in a cancer risk
55
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
clinic. To identify the
outcome of the pilot
program. To identify
factors associated with
increased acceptance of
psychological services.
Meiser et al,
333 women waiting initial
2000 (Australia)
Survey
To assess intention to
General Health
Accuracy of breast cancer
appointments for risk
undergo prophylactic
Questionnaire (GHQ)
risk perception
assessment, advice about
bilateral mastectomy
Impact of Event Scale (IES)
Intention to undergo
surveillance, and prophylactic
and psychologic
options at one of 14 familial
determinants in
cancer clinicians
unaffected women at
prophylactic mastectomy
increased risk of
developing hereditary
breast cancer.
Meiser &
12 studies. Total number of
Systematic review
To synthesise the
General Health
Accuracy of perceived risk of
Halliday. 2002
participants not known.
and meta-analysis
published empirical
Questionnaire-12 (GHQ12)
developing cancer
56
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
(Australia)
literature of prospective
General Health
and randomised
Questionnaire-30 (GHQ30)
controlled trials that
Profile of Mood State
include at least one of
(POMS)
the following outcomes
Spielberger State Trait
as variables:
Anxiety Index-State (STAI-
Psychological distress
State)
(Generalised anxiety;
Depression; Breast
cancer Anxiety);
Accuracy of perceived
risk of developing
cancer; Breast cancer
genetics knowledge;
Breast cancer screening
uptake
Michie et al.
35 patients attending a
regional genetics centre
Prospective follow-
To determine the validity
Spielberger State Trait
Counsellor-defined important
of using genetic
Anxiety Inventory-State
information
57
Study, year
Participants and genetic
(country)
condition
1997a (UK)
excluding those attending for a
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
up
counsellors reports of
(STAI-State)
Patient-defined important
pre-determined package of
information given in
information
counselling, those who had
genetic consultations as
Patients hopes and concerns
previously visited the centre,
the basis for a measure
Patient recall of information
non-English speakers and
of patient recall.
patients without a telephone
Michie et al.
32 patients referred to a
1997b (UK)
regional genetics centre
Survey
To categorise the key
Spielberger State Trait
Knowledge questionnaire
points given in genetic
Anxiety Inventory-State
Meeting of expectations
counselling, assess the
(STAI-State)
Satisfaction with information
amount and type of
information recalled,
and examine the
relationship between
counsellees‘ knowledge,
satisfaction with
information received,
the meeting of
expectations, concern
58
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
and anxiety. To
measure how much and
what types of
information given during
a genetic counselling
session are recalled and
whether this is
influenced by receiving
a summary letter.
Miller et al, 2005
279 women (18 years and
(Greece)
Intervention
To evaluate whether an
Knowledge Scale about
Intention to obtain genetic
over) who telephoned a region
educational intervention
Breast (and Ovarian) Cancer
testing Perceived risk
cancer information service
would (a) for average
and Hereditary
Satisfaction with service
expressing concerns about
risk women increase
Monitoring-Blunting Style
their risks for breast or ovarian
knowledge and
Scale (MBSS)
cancer
decrease risk
perceptions and
intentions to obtain
genetic testing (b) for
59
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
high risk women
increase their intention
to obtain genetic testing,
greater risk-related
knowledge and greater
risk perceptions.
Peters et al, 2000
31 parents caring for children
Survey
with Proteus syndrome
To describe the
Beck Depression Inventory
Parental confidence in the
depression status in
(BDI)
diagnosis of Proteus
parents of individuals
syndrome
with Proteus syndrome
Pieterse et al,
200 individuals (18 years or
2005 (The
Netherlands)
Survey
To describe the
Impact of Events Scale (IES)
older) referred to a department
construction and
Quality of Care Through the
of medical genetics for
psychometric properties
Patients’ Eyes (QUOTE)-
hereditary cancer.
of the QUOTE-geneCA, a
geneCA
counselee-centred
State-Trait Anxiety Inventory
instrument intended to
(STAI)
measure the needs and
Threatening Medical
60
Study, year
Participants and genetic
(country)
condition
Read et al, 2005
323 individuals affected by
(USA)
genetic diseases
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
Survey
preferences in genetic
Situation Inventory (TMSI)
counselling for
see also Monitoring-Blunting
hereditary cancer.
Style Scale (MBSS)
To develop and
Psychological Adaptation to
psychometrically
Genetic Information Scale
evaluate the
(PAGIS)
Psychological
Adaptation to Genetic
Information Scale
(PAGIS)
Ritvo et al, 2000
60 women given familial
(Canada)
Survey
To report the
Center for Epidemiological
genetic evaluations for ovarian
psychological responses
Studies Depression Scale
cancer risk at their first
of women given familial
(CES-D)
appointment.
genetic evaluations for
Life Orientation Test (LOT)
ovarian cancer risk
Medical Outcomes Study
Social Support Scale
(MOSS)
61
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
State-Trait Anxiety Inventory
(STAI)
Rose et al. 1999
122 patients (between 20 and
(UK)
Survey
To evaluate the
Spielberger State-Trait
Knowledge questionnaire
34 years) registered at one
feasibility and
Anxiety Inventory (STAI)
Patient views on reasons for
family practice
acceptability of taking
attendance, awareness and
routine family histories
understanding and
and subsequent genetic
acceptability of service to
counselling
patients
Schwartz et al,
289 high-risk women (25 years
Prospective follow-
To prospectively
Breast (and ovarian) Cancer
2003 (USA)
of age and over) who had
up
examine the impact of
Worry
genetic counselling and testing
BRCA1/2 testing on the
Hopkins Symptom Checklist
for alterations in the BRCA1/2
use of prophylactic
(HSL)
genes
oopherectomy and
Impact of Events Scale (IES)
ovarian cancer
State Anxiety Inventory
screening
(STAI)
To evaluate the impact
Functional Assessment of
Patient reports of
on surgical decision-
Cancer Therapy (FACT)
recommendation for: genetic
Schwartz et al.
194 newly diagnosed patients
with breast cancer who had not
Survey
Perceived risk
62
Study, year
Participants and genetic
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
(country)
condition
2004 (USA)
yet received definitive surgical
making of pre-treatment
Impact of Event Scale (IES)
testing and surgery
treatment and who had at least
genetic counselling and
Spielberger State-Trait
Treatment decisions
a 10% prior probability of
BRCA1/2 testing among
Inventory-State (STAI-State)
carrying a BRAC1/2 mutation.
breast cancer patients
measure
at high risk for carrying
a mutation.
Schwartz et al,
211 patients newly diagnosed
2005 (USA)
Survey
To evaluate factors
Functional Assessment of
with breast cancer who had not
associated with the
Cancer Therapy-General
yet received definitive local
decision to undergo
(FACT)
breast cancer treatment and
BRCA1/2 gene testing
Impact of Events Scale (IES)
who had a family history
at the time of initial
State Anxiety Scale of the
consistent with hereditary
breast cancer diagnosis.
State Trait Anxiety Inventory
breast cancer.
(STAI)
To use clients’ accounts
Audit Tool for Genetic
of a genetic service in Wales
and factor analysis to
Services
with any type of genetic
develop a robust
condition or concern
assessment and audit
Skirton et al.
97 clients (18 years and over)
2005 (UK)
Survey
63
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
tool related to outcomes
of genetic services.
Stalmeier et al.
51 healthy women who had
1999 (The
Netherlands)
Before and after
To evaluate the shared
Breast cancer (hereditary)
family histories of breast
decision making
concern
cancer referred for breast
program for women
Desire to participate in the
cancer risk counselling and
suspected to have a
shared decision making
screening.
genetic predisposition to
program
breast cancer in terms
Emotional reaction to the
of practicality, beneficial
program information Intention
effects and patient
to act upon shared decision
satisfaction.
making program
Risk comprehension and
subjective knowledge of
women in the shared
decision making program
Satisfaction with shared
decision making program
Shared decision making
64
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
program rationale
acceptability
35. Stalmeier et al.
368 patients at high risk for
2005 (The
Netherlands)
Survey
To investigate which
Center for Epidemiologic
Attitudes to genetic testing
breast and ovarian cancer,
psychological factors
Studies Depression-Scale
and the impact of the results
awaiting a genetic test result,
play a role when
(CES-D)
on their lives
and facing the choice between
patients evaluate their
Decision Evaluation Scales:
Treatment choice; strength of
prophylactic surgery or
medical treatment
Decision Control Scale;
treatment preference and
screening.
choices.
Satisfaction-Uncertainty
strength of preference of the
Scale and Informed Choice
specialist; partner
Scale
agreement; subjective
Impact of Event Scale (IES)
knowledge; amount of
State Trait Anxiety (STAI)
information; satisfaction with
quality of information;
negative emotional reaction
to information; need for
support/advice
36. Steinbart et al.
2001 (USA)
11 people at risk for familial
Alzheimer disease and
Survey
To assess the effects of
Hospital Anxiety and
DNA testing for early-
Depression Scale (HADS)
65
Study, year
Participants and genetic
(country)
condition
37. Trask et al. 2001
(USA)
Study type
Aim of study
Non-validated outcome
measure
frontotemporal dementia who
onset familial Alzheimer
requested genetic testing after
disease and
an invite letter
frontotemporal dementia
205 women referred to the
Validated Outcome measure
Before and after
Impact of Event Scale (IES)
To develop and validate
Medical Outcomes Short-
breast and ovarian risk
a measure designed to
Form Survey (SF-36)
evaluation program because
determine whether
Profile of Mood States
they have a family history of
patients attending a
(POMS)
breast or ovarian cancer in one
newly-founded breast
Worry Interference Scale
or more close relatives or other
and ovarian cancer risk
(WIS)
risk factors leading to a
evaluation clinic
presumed increase risk profile
perceived their cancerspecific thoughts as
interfering with their
functioning in a number
of areas.
van Oostrum et
65 (of these 51 also
al. 2003 (The
interviewed) unaffected women
Survey
To explore long-term
Breast Cancer Worry – five
psychosocial
items only
Risk and test perceptions
66
Study, year
Participants and genetic
Study type
Aim of study
Validated Outcome measure
(country)
condition
Netherlands)
with a 25 to 50% risk of
consequences of
Body Image/Sexuality Scale
carrying a BRCA1/2 mutation
carrying a BRCA1/2
(BISS)
applying for genetic
mutation and to identify
Hospital Anxiety and
predisposition testing in a
possible risk factors for
Depression Scales (HADS)
Family Cancer Clinic
long-term psychological
Impact of Events Scale (IES)
distress
Openness to Discuss Cancer
Non-validated outcome
measure
in the Family Scale - adapted
Vadaparampil et
al. 2005
(USA)
19 studies and 2517
participants
Systematic review
To review the
Breast Cancer Worry Scale
instruments most
Brief Symptom Inventory
commonly used to
(BSI)
measure depression,
Centers for Epidemiologic
anxiety and distress and
Studies and Depression
summarise the reported
Scale (CES-D)
psychometric properties
General Health
to assess the
Questionnaire (GHQ)
psychological factors
Hospital Anxiety and
measured among
Depression Scales (HADS)
67
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
individuals at increased
Hopkins Symptoms
risk for hereditary
Checklist-25 (HSCL-25)
breast, ovarian or colon
Impact of Event Scale (IES)
cancer.
Profile of Mood State – short
form
State-Trait Anxiety Inventory
(STAI)
Wagner et al.
2000 (USA)
90 people from families in
Survey
To evaluate the effect
Self-rating Depression Scale
Attitude of mutation carriers
which BRCA1 or BRCA2 was
that an awareness of
(SDS)
towards the option of
detected previously.
being a BRCA1 or
prophylactic mastectomy and
BRCA2 mutation carrier
or oopherectomy
has on the attitude
towards prophylactic
surgery and on
developing depression
symptoms.
Watson et al.
293 women attending four
Survey
To investigate the
Cancer Anxiety and
Expectations of service
impact of genetic
Helplessness Scale
Perception of risk
68
Study, year
Participants and genetic
(country)
condition
2005 (UK)
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
genetic clinics
counselling on
(Breast) Cancer Worry Scale
management of breast
General Health
cancer risk in women
Questionnaire-12 item (GHQ-
attending Cancer Family
12)
Clinics.
Impact of Event Scale (IES)
Perceived barriers to
mammography
Health Beliefs Model
(screening and breast
cancer)
Spielberger State-Trait
Anxiety Inventory (STAI)
Wolraich et al.
121 participants: 101 patients
1986 (USA)
Case-control
To determine the
Medical Communication
Patient knowledge of genetic
(parents of children with
properties of an
Behaviour System (MCBS)
condition survey
disorders, children with
observation system that
Medical Interview
disorders, relatives concerned
was designed to be
Satisfaction Scale- modified
about having children similarly
used in assessing
(MISS)
affected, persons belonging to
situations involving
Roter Interactional Analysis
69
Study, year
Participants and genetic
(country)
condition
Study type
Aim of study
Validated Outcome measure
Non-validated outcome
measure
at risk ethnic groups, women of
multiple health-care
System (process not
advanced parental age)
providers and family
outcome measure)
evaluated by a genetic
units, in which the care
counseling service and 20
providers are dealing
unobserved ‘control’ patients.
with potentially stressful
information.
References
Baider L, Ever-Hadani P, Kaplan De-Nour A. Psychological distress in healthy women with familial breast cancer: like mother, like daughter? International Journal of
Psychiatry in Medicine 1999;29:411-20.
Benkendorf JL, Reutenauer JE, Hughes CA, Eads N, Willison J, Powers M, et al. Patients' attitudes about autonomy and confidentiality in genetic testing for breastovarian cancer susceptibility. American Journal Medicine and Genetics 1997;73:296-303.
Berkenstadt M, Shiloh S, Barkai G, Katznelson MB, Goldman B. Perceived personal control (PPC): a new concept in measuring outcome of genetic counselling.
American Journal of Medical Genetics 1999;82:53-9.
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Appendix 3: Description of validated outcome measures used in the evaluation of clinical genetics services
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
Int R
Anticipated impact
Hailey et al.
Two domains: anticipated impact of positive result (6
To assess the likelihood of a
Rating scale
of results
(2000)
items) and anticipated impact of negative result (6
variety of possible psychological
Index
Lerman et
items)
reactions to a positive and
Genetics
negative test result.
specific
al. (1995)
Nonpreference
based
Assessment of
Hailey et al.
Two sections: 6-item scale on perceived benefits of
To assess the perceived benefits
Rating scale
benefits and risk of
(2000)
genetic testing and 5-item scale on perceived risks of
and risks of genetic testing.
Profile
breast cancer
Lerman et
genetic testing
testing
al. (1995)
Int R
Genetics
specific
76
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
Nonpreference
based
Audit Tool for
Skirton et
18-items with six-factors: enhanced understanding;
To measure outcomes of clinical
Rating scale
Face V
Genetic Services
al. (2005)
positive psychological change; respect for autonomy;
genetics services.
Profile
Con V
adaptation; disequilibrium; value of contact
Genetics
specific
Nonpreference
based
Beck Depression
Beck et al.
21 symptoms and attitudes: mood; pessimism; sense
To measure the intensity of
Rating scale
Int R
Inventory (BDI)
(1988)
of failure; lack of satisfaction; guilt feelings; sense of
depression in psychiatrically
Index
Con V
punishment; self-dislike; self-accusation; suicidal
diagnosed patients and for
Non-genetics
Cstruc V
wishes; crying; irritability; social withdrawal; sleep
detecting depression in normal
specific
Crit V
disturbance; fatigability; loss of appetite; weight loss;
populations.
Non-
somatic preoccupation and loss of libido. Scored by
preference
summing the ratings given to each of the 21 items.
based
Two long versions (21-items) and one short version
77
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
Int R
(13-item) have been developed.
Beliefs About Breast
Bowen et
Three scales: fear of stigma (3-item); beliefs about
To measure specific beliefs about
Rating scale
Cancer Genetic
al. (2002)
unrestricted access to genetic testing (2-items);
breast cancer genetic testing.
Profile
Testing
unrestricted flow of information about test results
Genetics
among family members and physicians (3-items).
specific
Nonpreference
based
Body
Van
28-items based on three scales: general body image
To assess body image and
Rating scale
Int R
Image/Sexuality
Oostrum et
(five dimensions and six items); breast-related body
general sexual functioning
Index
Retest R
Scale (BISS)
al. (2003)
image (three items) and general sexual functioning
Genetics
Lodder et
(five dimensions and seven items). Two items
specific
al. (2002)
concerned estimated importance of physical
Non-
appearance; three items concerned frequency and
preference
quality of non-sexual intimacy; five items concerned
based
perceptions of partner’s feelings and two items asked
how important one judged cuddling or having sex with
the partner. A separate scale is available for partners.
78
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
(Breast) Cancer
Berrenberg
41-item self-report scale.
To assess attitudes towards
Rating scale
Int R
Attitude Inventory
(1991)
Two shortened versions exist: 30-item with word
cancer.
Profile
Retest R
(CAI) and Anxiety
Hailey et al.
‘breast’ added before cancer and 8-item for anxiety
Non-genetics
Cstruc V
sub-scale (BCANX)
(2000)
(BCANX)
specific
Nonpreference
based
Breast cancer
Stalmeier et
(hereditary) concern
al. (1999)
Four questions
To determine concern about
Rating scale
breast cancer
Index
Int R
Genetics
specific
Nonpreference
based
Breast Cancer
Erblich et
27-item version (mixed true/false and multiple choice
To assess knowledge of
Rating scale
Int R
Genetic Counselling
al. (2005)
format) assessing: basic Mendelian genetic
information generally provided
Profile
Con V
Knowledge
information; transmission of genetic risk for breast
during breast cancer genetic
Genetics
Crit V
Questionnaire
cancer; implications of BRCA1/2 status for risk of
counselling. It may provide a
specific
79
Outcome measure
Primary
Domains
Purpose
source (s)
(BCGKQ-27)
Type of
Validation
measure
(reported)a
developing other cancers, implications of carrier status
method to assess the impact of
Non-
for one’s own risk, implications for family members’
stress and other factors given
preference
risks, implications for one’s screening behaviour and
that distress and worry
based
information regarding the utility of prophylactic
associated with risk for breast
measures
cancer may have an impact on
processing of information.
Breast Cancer
Lerman et
Three items: frequency of worry; impact on mood;
To assess dimensions of cancer
Rating scale
Int R
Worry
al. (1991a)
impact on functioning. Also, six-item scale available.
worry
Profile
Retest R
Lerman et
Non-genetics
al. (1991b)
specific
McCaul et
Non-
al. (1998)
preference
based
Brief Symptom
Derogatis
A shortened form of the SCL-90 R. Nine symptom
To assess psychological
Rating scale
Int R
Inventory
(1983)
dimensions and a global index of distress: The Global
symptom patterns in normal
Profile and
Retest R
Severity Index (GSI)
populations and in psychiatric
index
patients.
Non-genetics
specific
80
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
Nonpreference
based
Cancer Anxiety and
Kash et al.
Helplessness Scale
(1992)
12-item
To assess women’s general
Rating scale
cancer anxiety and sense of
Profile
helplessness.
Non-genetics
Int R
specific
Nonpreference
based
Center for
Radloff
20-item scale that includes: depressed mood; feelings
To measure depressive
Rating scale
Int R
Epidemiologic
(1977)
of guilt and worthlessness; feelings of helplessness
symptomatology in the general
Index
Retest R
Studies Depression-
Ross &
and hopelessness; psychomotor retardation; loss of
population rather than the
Non-genetics
Cstruct V
Scale (CES-D) and
Mirowsky
appetite and sleep disturbance. Scores range from 0 to
assessment for diagnosis at
specific
brief form
(1984)
60 with higher score indicating more symptoms. There
clinical intake and/or evaluation
Non-
is also a brief form that contains seven-items:
of severity of illness over the
preference
depressed affect; positive affect; somatic complaints;
course of treatment.
based
interpersonal problems.
81
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
Decision Evaluation
Stalmeier et
15-items representing three separate scales: Decision
To assess how patients evaluate
Rating scale
Int R
Scales
al. (2005)
Control Scale; Satisfaction-Uncertainty Scale and
their medical treatment choice.
Profile
Con V
Non-genetics
Cstruc V
Informed Choice Scale.
specific
Nonpreference
based
Decisional Conflict
O’Connor
Scale that contains questions derived from the
To measure decisional conflict,
Rating scale
Int R
Scale (DCS)
(1995)
decisional conflict construct: uncertainty (three items);
which is a state of uncertainty
Index
Retest R
Bunn &
selected factors contributing to the uncertainty (nine
about the course of action to
Non-genetics
Cstruc V
O’Connor
items) and perceptions of effective decision-making
take. Designed to elicit:
specific
Crit V
(1996)
(five items). Scores range from one (low decisional
uncertainty about choosing
Non-
conflict) to five (high decisional conflict).
among alternatives; modifiable
preference
factors contributing to certainty,
based
such as feeling informed, clear
about values, and supported in
decision-making; and perceived
quality of decision making.
82
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
Int R
Decision making
Brain et al.
4-item scale: time spent thinking about whether or not
To measure the extent to which
Rating and
process
(2005)
to have test; number of people discussed with; how
women thought or ‘agonised’
multiple-choice
Michie et al.
many reasons in total considered and how difficult it
about the decision.
Profile
(1997)
was to make upo their mind about the test.
Genetics
specific
Nonpreference
based
Desire to participate
Stalmeier et
in the shared
al. (1999)
Four questions
decision making
To measure desire to participate
Rating scale
in the shared decision making
Index
program
Genetics
program
Int R
specific
Nonpreference
based
Emotional reaction
Stalmeier et
to the program
al. (1999)
information
Four items
To measure the emotional
Rating scale
reaction to information given on
Index
the shared decision making
Genetics
Int R
83
Outcome measure
Primary
Domains
Purpose
source (s)
program
Type of
Validation
measure
(reported)a
specific
Nonpreference
based
Family Environment
Moos &
90-item survey with 10 subscales representing
Designed to measure the social-
Rating scale
Int R
Scale (FES)
Moos
dimensions of: family relationships (conflict, cohesion
environmental characteristics of
Profile
Retest R
(1994)
and expressiveness); personal growth (independence,
all types of families. Three forms
Non-genetics
Face V
Halvorsen
achievement orientation, intellectual-cultural
of the FES are available: The
specific
Con V
(1991)
orientation, active-recreational orientation and moral-
Real Form (Form R) measures
Non-
Cstruc V
religious emphasis; system maintenance (organization
people’s perceptions of their
preference
and control measures). Families are then grouped into
actual family environments, the
based
one of three family environment typologies.
Ideal Form (Form I) rewords
items to assess individuals’
perceptions of their ideal family
environment, and the
Expectations Form (Form E)
instructs respondents to indicate
what they expect a family
84
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
environment will be like under, for
example, anticipated family
changes. A children’s version is
also available.
Functional
Cella et al.
FACT-general consists of five subscales: physical well-
To measure quality of life in
Rating scale
Int R
Assessment of
(1993)
being; emotional well-being; social well-being;
patients with cancer. There is
Profile and
Retest R
Cancer Therapy-
Brady et al.
functional well-being and relationship with doctor. It
also a scale specific to breast
Index
Cstruc V
General (FACT)
(1997)
contains 28 items. The FACT-B scale consists of the
cancer.
Non-genetics
S
FACT-general plus the breast cancer subscale. It
specific
contains 44-items. Breast Cancer subscale consists of
Non-
nine items.
preference
based
General Health
Goldberg &
Versions available:
To detect those with a
Rating scale
Int R
Questionnaire
Williams
GHQ-60; GHQ-30; GHQ-28; GHQ-12.
diagnosable psychiatric disorder.
Index
Retest R
(GHQ)
(1988).
60-items (GHQ-60). Scaled version (GHQ-28) contain
It looks at two areas: inability to
Non-genetics
Con V
Goldberg &
28-item with 4 subscales (somatic symptoms; anxiety
carry out one’s normal ‘healthy’
specific
Cstruc V
Hillier
and insomnia; social dysfunction and sever
functions and the appearance of
Non-
Crit V
(1979)
depression).
new phenomena of a distressing
preference
S
85
Outcome measure
Primary
Domains
Purpose
Type of
Validation
measure
(reported)a
nature.
based
I
source (s)
Genetic Counseling
Tercyak et
Six-items related to the process and content of a
To assess patient satisfaction
Rating scale
Int R
Satisfaction Scale
al. (2001)
genetic counselling session: length of time spent in
with the process and content of
Index
Face V
genetic counselling; counselor’s perceived
genetic counselling
Genetics
(GCSS)
understanding of, and empathy toward, patient stress;
specific
perceived helpfulness and value of the session; degree
Non-
of feelings of reassurance. Satisfaction with
preference
information received.
based
Genetic Knowledge
Furr & Kelly
Five items: prevent and cure; determinism; racial
To measure level of genetic
Rating scale
Int R
Index (GKI)
(1999)
academic differences; only mothers can pass genes
knowledge, not specific to a
Index
Cstruc V
and unhealthy. Four domains measure knowledge
genetic disease. Designed to be
Genetics
concepts of causality: clinical genetics; health, illness
an edumetric rather than
specific
and disease; social characteristics or stigma and
psychometric measure.
Non-
inheritance/heritability. Uses true/false format.
preference
based
Global Severity
Derogatis
SCL-90R has 90-items. It has 9 primary symptom
The SCL-90R was designed to
Rating scale
Int R
Index (GSI) of the
(1983)
dimensions (somatization; obsessive-compulsive;
reflect the psychological
Profile
Retest R
86
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
Symptom Check
interpersonal sensitivity; depression; anxiety; hostility;
symptom patterns of psychiatric
Non-genetics
Cstruc V
List-90 (SCL90)
phobic anxiety; paranoid ideation; psychoticism) plus 7
and medical patients. To
specific
Crit V
extra clinically important items. Three 3 global indices
measure the degree to which
Non-
S
of distress are used (global severity index; positive
they suffered from psychological
preference
symptom distress index; positive symptom total).
complaints
based
11-items
To assess perceived
Rating scale
susceptibility to disease, severity
Profile
of disease, benefits of
Non-genetics
intervention, risks of intervention,
specific
and practical obstacles to
Non-
intervention.
preference
Health Beliefs Model
Kash et al.
(screening and
(1992)
breast cancer)
Face V
based
Health Orientation
Woolridge
A written self-report instrument. Nine situations posed
Designed to objectively appraise
Rating scale
Int R
Scale
& Murray
(6 relate to sickle trait and 2 directed to more generally
the psychological implications of
Profile
Retest R
(1989)
feared health conditions eg. cancer and hypertension,
identification as a sickle cell gene
Genetics
Cstruc V
one addresses self-concept). Each situation followed
carrier. Also used to assess the
specific
by 12 bipolar semantic differential (rating) scales with 3
emotional implications of being a
Non-
87
Outcome measure
Primary
Domains
Purpose
source (s)
dimensions: evaluative; potency and activity.
carrier of the CF-gene
Type of
Validation
measure
(reported)a
preference
based
Hopkins Symptom
Derogatis
Main scale has 58-items with 5 dimensions
To assess the presence and
Rating scale
Int R
Checklist (HSCL)
et al. (1974)
(somatisation; obsessive-compulsive; interpersonal
severity of anxiety and
Profile
retest R
sensitivity; anxiety and depression). 25-item scale to
depression symptoms over the
Non-genetics
Cstruc V
assess anxiety and depression
previous month. It is a self-report
specific
Crit V
symptom inventory.
Nonpreference
based
Hospital Anxiety and
Zigmond &
14 questions with two subscales: anxiety and
Self-assessment mood scale
Rating scale
Int R
Depression Scale
Snaith
depressions each including seven items
designed for use in non-
Profile
Con V
(HADS)
(1983)
psychiatric hospital patients to
Non-genetics
detect states of depression and
specific
anxiety.
Nonpreference
based
Impact of Event
Horowitz et
15-items of which seven measure intrusion
To evaluate current subjective
Rating scale
Int R
Scale (IES)
al. (1979)
characterised by unbidden thoughts and images of the
distress for any life event. The
Index
Retest R
88
Outcome measure
Primary
Domains
Purpose
source (s)
Intention to act upon
Stalmeier et
shared decision
al. (1999)
Type of
Validation
measure
(reported)a
S
event and eight items measure avoidance
wording is not anchored to a
Non-genetics
characterised by denial of meanings and
specific occurrence but to the
specific
consequences of the event
particular qualities of conscious
Non-
experience that encompass all
preference
such events.
based
To measure the intention to act
Rating scale
upon the shared decision making
Index
program
Genetics
Two questions
making program
Int R
specific
Nonpreference
based
Knowledge About
Donovan &
18-items with the following dimensions: symptoms; risk
To assess women’s knowledge
Rating scale
Int R
Breast Cancer
Tucker
factors for breast cancer; misconceptions;
of several dimensions of breast
Profile
Con V
(2000)
epidemiology and curability. Also versions called
cancer.
Generic
Stager
Breast Cancer Knowledge Test (20-items) (Stager
Non-
(1993)
1993) and Women’s Knowledge about Breast Cancer
preference
Vaeth
(16-items) (Vaeth 1993)
based
89
Outcome measure
Primary
Domains
Purpose
Type of
Validation
measure
(reported)a
To assess knowledge of
True/false
Int R
inheritance of breast-ovarian
rating
cancer susceptibility and genetic
Profile
testing.
Genetics
source (s)
(1993)
Knowledge about
Lerman et
genetic testing for
al. (1996)
11-item scale. Adapted to HNPCC (Brain et al. 2005)
inherited cancer
specific
Nonpreference
based
Knowledge about
Donovan &
14-item scale: hereditary knowledge about breast
To assess women’s knowledge
Rating scale
genetic risk for
Tucker
cancer and increased risk of breast cancer associated
about the hereditary nature of
Profile
breast cancer
(2000)
with BRCA1 or BRCA2 gene (11-items) (Hughes 1997,
breast cancer and the increased
Genetics
Lerman 1997); legal, ethical and social implications of
risk of breast and ovarian cancer
specific
receiving genetic test results (3-items) (Mark, Garber
associated with altered BRCA1
Non-
and Patenaude 1995, Rothstein 1995)
or BRCA2 gene.
preference
Int R
based
Knowledge Scale
Ondrusek N
11-item scale measuring: knowledge about breast
Developed to test general
Rating scale
Retest R
about Breast (and
et al. (1999)
cancer incidence and prognosis, risk factors,
knowledge about breast cancer
Index
Con V
90
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
Ovarian) Cancer
screening, disease presentation and treatment and
and hereditary breast cancer
Non-genetics
and Hereditary
hereditary breast cancer. The 11-items fall into three
among women at low to
specific
areas: incidence and etiology (3 items); screening,
moderate risk of hereditary
Non-
disease presentation and treatment (4 items) and
breast cancer.
preference
genetics (4 items). Adapted to include ovarian cancer.
based
Life Orientation Test
Scheier et
The Life Orientation test is an 8-item measure (plus 4
To measure the level of optimism
Rating scale
Int R
(LOT)
al. (1994)
filler items). The revised (brief) (LOT) comprised 10-
in one’s outlook on life
Index
Retest R
Carver et
item scale and only 6 of the 10 items used to derive an
Non-genetics
Cstruc V
al. (1994)
optimism score (4 filler items).
specific
Nonpreference
based
Measure of
Braitman &
26-item questionnaire relating to the recurrence risk for
To measure counselees’
Rating scale
Face V
Counselees’
Antley.
Down syndrome; basic genetic knowledge; knowledge
knowledge and/or understanding
Index
Con V
Knowledge of Down
(1978)
about prenatal diagnosis. 12-questions selected as a
of Down syndrome
Genetics
Int R
Syndrome
post-test and 8-questions selected as a pre-test
specific
Nonpreference
91
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
based
Medical
Wolraich et
Codes 13-healthcare provider and 10 patient
To assess physician-patient
Rating scale
Con V
Communication
al. (1986)
behaviours organised into: informational; relational and
interactions that involve giving
Profile
Cstruc V
negative behaviour categories.
distressful information.
Genetics
Crit V
Behaviour System
(MCBS)
specific
Nonpreference
based
Medical Interview
Wolf et al.
29-items: 11 items relate to distress relief (cognitive
To assess the patient’s
Rating scale
Int R
Satisfaction Scale -
(1978)
domain); 10 items relate to rapport (affective domain);
perception of a particular care
Profile
Con V
4 items relate to communication comfort
encounter rather than satisfaction
Non-genetics
(communication behaviour); 4 items relate to
with medical care in general
specific
modified (MISS)
compliance (behaviour intent). Modified version:
Non-
removed 9 items that did not relate to genetic
preference
counselling and re-wording some questions to make
based
them appropriate for genetic counselling
Medical Outcomes
Ware
36-item questionnaire with eight domains: physical
Short-Form Survey
(1993)
functioning; social functioning; role-emotional; role-
To measure quality of life.
Rating scale
Int R
Profile and
Con V
92
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
(SF-36 and SF-12)
Jenkinson
physical; bodily pain; vitality; mental health; general
index
Crit V
Oxford, 1996
et al. (1996)
health. Also, 12-item version.
Non-genetics
Cstruc V
specific
Nonpreference
based
Medical Outcomes
Sherbourne
19-item measuring 5 dimensions: emotional;
To measure the current
Rating scale
Int R
Study Social
et al. (1991)
informational; tangible; affectionate and positive social
availability of functional support
Profile
Retest R
Non-genetics
Cstruc V
Support Scale
interaction.
(MOSS)
specific
Nonpreference
based
Monitoring Blunting
Miller
Describes four hypothetical threatening/stress-evoking
To determine information-seeking
True/false
Int R
Style Scale (MBSS)
(1987)
situations each followed by eight statements describing
coping style.
rating
Retest R
see also Miller
ways of dealing with the situation.
Profile and
Behavioural Style
index
Scale and
Non-genetics
93
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
Threatening Medical
specific
Situation Inventory
Non-
(TMSI)
preference
based
Minnesota
Graham
566 statements with: 8 Validity Scales*; 5 Superlative
To assess general personality
True/false
Int R
Multiphasic
(1987)
Self-Presentation Subscales*; 10 Clinical Scales; 9
profile. Ego strength is
Profile
Retest R
Personality
Barron
Restructured Clinical (RC) Scales; 15 Content Scales*;
conceptualised as the general
Non-genetics
Con V
Inventory (MMPI)
(1953)
27 Content Component Scales*; 20 Supplementary
capacity for personality
specific
Cstruc V
plus supplementary
Scales*; 31 Clinical Subscales*; various special or
integration. People with high ego
Non-
Crit V
ego strength scale
setting-specific indices* (*not included in all reports).
strength tend to have good
preference
The Basic Service Report only provides information on
coping strategies to deal with
based
3 Validity Scales (L, F, K) and the 10 Clinical Scales,
stress
which are located in the first 370 items. Several
additional supplementary scales have been developed,
such as Ego strength which consists of 68 items
grouped under: physical functioning and physiological
stability; psychasthemia and seclusiveness; attitudes
towards religion; moral posture; sense of reality;
94
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
Int R
personal adequacy, ability to cope; phobias, infantile
anxieties; miscellaneous.
Modified Maternal
Goel et al.
Original questionnaire 14-items (Knowledge of
Original questionnaire designed
Rating scale
Serum Screening
(1996)
maternal serum screening) that has been modified to
to assess knowledge about
Index
19-items.
maternal serum screening.
Genetics
Questionnaire
Modified to assess knowledge of
specific
(MSSKQ)
prenatal testing in general rather
Non-
than maternal serum screening
preference
Knowledge
based
modified Tolerance
Geller et al.
Seven-items related to tolerance for ambiguity. Two
To measure ambiguity tolerance
Rating scale
Int R
for Ambiguity Scale
(1993)
sub-scales present: desire for certainty (4 items) and
as a more general personality
Index
Con V
willingness to admit discomfort with ambiguity (3 items)
trait. Intolerance for ambiguity
Non-genetics
has been defined as ‘the
specific
tendency to perceive situations
Non-
that are novel, complex or
preference
insoluble, as sources of threat.’
based
(TFA)
Multidimensional
Cella et al.
25-item questionnaire containing 21 questions for all
To assess concerns and
Rating scale
Int R
Impact of Cancer
(2002)
respondents and 4 questions on parenthood status,
psychosocial issues associated
Profile
Cstruc V
95
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
Crit V
Risk Assessment
test result and cancer diagnosis. Three sub-scales:
with genetic testing for cancer
Genetics
(MICRA)
distress (6 items); uncertainty (9 items) and positive
risk
specific
experiences (4 items)
Nonpreference
based
Openness to
Mesters et
Eight statements: four refer to openness of discussion
To assess openness of
Rating scale
Int R
Discuss Cancer in
al. (1997)
in the family in general; two refer to openness of
communication about cancer
Index
Con V
the Family Scale
discussion with the partner and two refer to openness
(and cancer genetic test result) in
Non-genetics
Crit V
(ODCFS)
of discussion with the children.
the nuclear family (partner and
specific
children) and the family of origin
Non-
(parents, siblings). Openness of
preference
discussion is related to a
based
theoretical model of coping with
cancer stress.
Patient Satisfaction
Brain et al.
12-items with 3 dimensions: instrumental; affective;
To assess patient satisfaction
Rating scale
with Genetic
(2000)
procedural.
with the genetic counseling
Profile
Counselling
Shiloh et al.
process.
Genetics
(1990)
Int R
specific
96
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
Nonpreference
based
Perceived personal
Berkenstadt
Nine items representing three dimensions of control:
Personal control is defined as:
Rating scale
Int R
control (PPC)
et al. (1999)
cognitive; behavioural and decisional.
’the belief that one has at one’s
Index
Cstruc V
disposal a response that can
Genetics
Con V
influence the aversiveness of an
specific
event.
Nonpreference
based
Perceived Risk of
Brain et al.
2-items: what level of risk do you think you have and in
To assess perceived personal
Rating scale
Breast Cancer
(1999)
your opinion, what are your chances of getting breast
risk of developing breast cancer.
Profile
Lerman et
cancer compared with the average woman.
Int R
Generic
al. (1997)
Nonpreference
based
Perceptions of the
Donovan &
14-item scale with two independent factors:
To assess perceptions of the
Rating scale
benefits, limitations
Tucker
perceptions of benefits and perceptions of
benefits, limitations and risks of
Profile
Int R
97
Outcome measure
Primary
Domains
Purpose
source (s)
and risks of genetic
(2000)
testing
Hughes et
limitations/risks
Type of
Validation
measure
(reported)a
genetic testing for breast-ovarian
Genetics
cancer risk.
specific
al. (1997)
Non-
Lerman et
preference
al. (1996)
based
Lerman et
al. (1997)
Audrain et
al. (1995)
Profile of Mood
McNair et
65-item questionnaire with six scales: tension/anxiety;
To measure mood states in
Rating scale
Int R
State (POMS)
al. (1981)
depression/dejection; anger/hospitality; vigor/activity;
psychiatric outpatients and for
Index
Retest R
fatigue/inertia and confusion/bewilderment. Brief
assessing changes in such
Non-genetics
Face V
version contains 17-items.
patients. It is also used in non-
specific
patient populations.
Nonpreference
based
Prostate cancer
Doukas
53-item attitude survey: 49 non-intent questions and 4
To explore what values and
Rating scale
genetic screening
(2004)
questions to probe men’s expressed intent. Five
expectations influence the
Profile
Int R
98
Outcome measure
Primary
Domains
Purpose
source (s)
survey
Type of
Validation
measure
(reported)a
subscales: motivation; consequences; distress;
intention of men to undergo
Genetics
positive expectations; intention
genetic testing for prostate
specific
cancer risk
Nonpreference
based
Psychological
Read et al.
50-items with five subscales (non-intrusiveness;
To measure multiple dimensions
Rating scale
Int R
Adaptation to
(2005)
support; self-worth; certainty; self-efficacy)
of psychological adaptation to
Profile
Con V
Genetic Information
genetic information to facilitate
Genetics
Scale (PAGIS)
evaluation of the efficacy of
specific
counseling and supportive
Non-
interventions and to identify
preference
people at risk for coping
based
difficulties.
Psychological
Cockburn
12-items and three domains: emotional (5); social (2)
To assess the psychological
Rating scale
Int R
Consequences
et al. (1992)
and physical life (3).
consequences of breast
Profile
Con V
mammography on well-being
Non-genetics
Cstruc V
Questionnaire
(PCQ)
specific
Non-
99
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
preference
based
Quality of Care
Pieterse et
25-items on generic and 19-items on genetics-specific
To measure the needs and
Rating scale
Int R
Through the
al. (2005)
aspects of health care.
preferences in genetic counseling
Profile
Con V
Patients’ Eyes
for hereditary cancer before their
Genetics
Cstruc V
(QUOTE)-geneCA
first consultation.
specific
Nonpreference
based
Risk comprehension
Stalmeier et
and subjective
al. (1999)
Six questions
To assess risk comprehension
Rating scale
and subjective knowledge of the
Index
knowledge of
women in the shared decision
Genetics
women in the
making program
specific
shared decision
Non-
making program
preference
Int R
based
Rosenberg Self-
Rosenberg
Esteem Scale
(1965)
10-item scale. Scores range from 0 to 6.
Global measure of self-esteem
Rating scale
Int R
considered to be an indicator of
Index
Retest R
100
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
Curbow &
psychological adjustment. Self-
Non-genetics
Somerfield
esteem has been defined as: ‘a
specific
(1991)
favourable or unfavourable
Non-
attitude toward the self’. This
preference
measure was originally
based
developed to measure
adolescents' global feelings of
self-worth or self-acceptance.
Satisfaction with
Brain et al.
Decision Scale
6-items: satisfaction with the decision
To measure satisfaction with a
Rating scale
(2005)
medical decision.
Profile
Holmes-
Developed in the context of
Non-genetics
Rovner et
postmenopausal hormone-
specific
al. (1996)
replacement therapy decisions.
Non-
Int R
preference
based
Satisfaction with
Stalmeier et
shared decision
al. (1999)
making program
7 questions: satisfaction and support dimensions
To measure the level of
Rating scale
Int R
satisfaction with the shared
Index
Cstruc V
decision making program
Genetics
101
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
specific
Nonpreference
based
Self-rating
Zung
20-items: psychic or affective; physiological or somatic;
To measure measure, using self-
Rating scale
Int R
Depression Scale
(1986)
psychomotor and psychological.
rating and interviewer rating,
Index
Con V
depressive disorder.
Non-genetics
Face V
specific
Cstruc V
(SDS)
Nonpreference
based
Shared decision
Stalmeier et
making program
al. (1999)
rationale
acceptability
4 questions
To measure the acceptability of
Rating scale
the rationale for the shared
Index
decision making program
Genetics
Int R
specific
Nonpreference
based
102
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
Spielberger State
Spielberger
20-statements for the S-Anxiety scale that evaluate
To measure anxiety. The STAI
Rating scale
Int R
Trait Anxiety
et al. (1970)
how respondents feel ‘right now, at this moment’ and
clearly differentiates between the
Profile
Retest R
Inventory (STAI)
Marteau &
20-statements for the T-Anxiety scale that assess how
temporary condition (state
Non-genetics
Face V
and state scale
Bekker
respondents feel ‘generally’.
anxiety) and the more general
specific
Con V
(STAI-State)
(1992)
and long-standing condition (trait
Non-
Cstruc V
anxiety). A version has been
preference
Crit V
adapted for use in children.
based
S
I
Spiritual Well-Being
Ellison &
20-item: 10 items measure existential well-being
To assess personal spiritual
Rating scale
Int R
Scale (SWBS)
Smith
(EWB) and 10-items measure religious well-being
meaning and satisfaction.
Index
Retest R
(1991)
(RWB). The scale gives three scores: total scale score
Spiritual well-being has been
Non-genetics
Crit V
Gioiella et
(SWB); a score for RWB and EWB. The highest
defined as: ‘the affirmation of life
specific
al. (1998)
degree of SWB is 120 and 60 each for RWB and EWB.
in a relationship with God, self,
Non-
community and environment that
preference
nurtures and celebrates
based
wholeness’. The scale may be
useful in evaluating the impact of
various forms of health
103
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
interventions on subjective wellbeing of patients
Subjective Quality of
Dazord
The domains considered are: functional life; social life;
To assess subjective quality of
Rating scale
Int R
Life Profile (SQLP)
(1995)
material life; spiritual life; unforeseen domains; global
life in patients or healthy people
Profile
Retest R
assessments; ability (or change); degree of
and explore the various
Non-genetics
Crit V
satisfaction; importance attributed; change anticipated;
dimensions of quality of life.
specific
Cstruc V
ability to cope; global measures. Divided into a core
Subjective refers to the subject’s
Non-
and optional questionnaire: physical and psychological
own inner experience rather than
preference
well-being; inter-individual and social relationships.
‘objective’, which relates to
based
The core questionnaire contains 33 items. The
aspects of everyday life (health
subjective weight is dependent on: the importance
status to material
attributed to each goal by the subject; his/her tolerance
considerations).
of the distance between his/her position and his/her
goals and his/her ability to cope with this distance.
Tennessee SelfConcept Scale
Fitts (1965)
100 descriptive statements designed measure of the
The scale is intended to
Rating scale
Int R
individual’s concept of self. Provides scores for:
summarize an individual's feeling
Profile and
Retest R
physical self (physical appearance); moral-ethical self
of self-worth, the degree to which
index
Cstruc V
(feelings of being a good or bad person); personal self
the self-image is realistic, and
Non-genetics
Crit V
104
Outcome measure
Primary
Domains
Purpose
source (s)
Type of
Validation
measure
(reported)a
(sense of personal worth); family self (feeling of
whether or not that self-image is
specific
adequacy as a family member); social self (self as
a deviant one. The measure has
Non-
perceived in relation to others); self-criticism (tendency
a version for children.
preference
to fake good) and a total score.
based
Utrechtse Coping
Westbrook
Five dimensions: confrontation versus avoidance;
To evaluate coping strategies
Rating scale
List (UCL)
(1979)
optimism versus realism; seeking versus not seeking
such as: active coping, palliative
Profile
interpersonal help; fatalism versus positive orientation;
coping, avoiding reactions, social
Non-genetics
control versus lack of control by the self. Dutch
support seeking, depressive-
specific
adaptation of the Westbrook Coping Scale.
regressive coping, expression of
Non-
emotions or anger and
preference
comforting ideas.
based
Int R
Worry Interference
Trask
Seven-item: disruptions in sleep, work, concentration,
To assess the degree to which
Rating scale
Int R
Scale (WIS)
(2001)
relationships, having fun, feeling sexually attractive,
thoughts about breast cancer are
Index
Retest R
meeting family needs and reproductive decisions.
perceived as interfering with the
Genetics
Con V
Additional items assess participants: abilities to speak
respondents’ daily functioning.
specific
with their partners about their concerns, their partners
Non-
abilities to be understanding and frequency of
preference
participants’ worries about their children’s or
based
105
Outcome measure
Primary
Domains
source (s)
Purpose
Type of
Validation
measure
(reported)a
grandchildren’s chances of developing breast cancer.
Embedded in a larger survey that assesses: perceived
risk; intent to undergo genetic testing and frequency of
worry about getting breast cancer.
aCoding
for psychometric tests performed:
Validity: face validity (Face V); content validity (Con V), construct (Cstruc V), criterion (Crit V);
Reliability: internal reliability (Int R); test/retest (Retest R)
Sensitivity to change: (S)
Interpretability (I)
106
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Appendix 1: Search strategy for Medline
#
Search History
1
(Genetic adj4 screen$).tw.
2
(Genetic adj4 assessment).tw.
3
(Genetic adj4 evaluation).tw.
4
(Genetic adj4 laborator$).tw.
5
Non-directive couns$.tw.
6
(Genetic adj4 test$).tw.
7
(Genetic$ adj4 service$).tw.
8
Couns$.tw.
9
Genetic$.tw.
10
8 and 9
11
(Genetic$ adj4 cent$).tw.
12
Genetic$ clinic$.tw.
13
(Genetic$ adj4 register$).tw.
14
(Genetic$ adj4 advi$).tw.
15
Clinical genetic$.tw.
16
Genetic medicine$.tw.
17
Genetic risk$.tw.
18
Genetic information$.tw.
19
1 or 2 or 3 or 4 or 5 or 6 or 7 or 10 or 11 or 12 or 13 or 14 or 15 or 16 or 17 or 18
20
Patient-based outcome$.tw.
21
Patient-reported outcome$.tw.
113
22
Patient outcome$.tw.
23
Health status$.tw.
24
Health status indicator$.tw.
25
Quality of life.tw.
26
Functional status$.tw.
27
Subjective health status$.tw.
28
Health status assessment$.tw.
29
Disability scale$.tw.
30
Subjective health.mp.
31
Performance status$.tw.
32
(Outcome$ adj4 measure$).tw.
33
Outcome$.tw.
34
Effect$.tw.
35
Utility.tw.
36
Measure$.mp.
37
Success$.tw.
38
Impact$.tw.
39
Satisfaction.mp.
40
Participation.mp.
41
Patient.mp.
42
Consumer.mp.
43
39 or 40
44
41 or 42
45
43 or 44
46
((public or consumer$ or patient$) adj3 (preference$ or opinion$ or choice$ or participat$)).tw.
47
Anxiety.tw.
48
Belief$.tw.
49
Depression.tw.
114
50
Adjustment.tw.
51
Cancer worry.tw.
52
(Understand$ adj4 risk$).tw.
53
worry.tw.
54
(Understand$ adj4 genetic$).tw.
55
(Recall adj4 risk$).tw.
56
(Knowledge adj4 risk$).tw.
57
Decision-making.tw.
58
Reproductive intention$.tw.
59
Reproductive behavio$.tw.
60
Screening intention$.tw.
61
Screening behavio$.tw.
62
(Family adj4 communicat$).tw.
63
(Interest adj4 genetic test$).tw.
64
(Interest adj4 screening).tw.
65
(Uptake adj4 genetic test$).tw.
66
(Uptake adj4 screening).tw.
67
Patient expectation$.tw.
68
Psychologic$.tw.
69
Psychosocial$.tw.
70
Psycho-social$.tw.
71
Assessment.tw.
72
Patient-communication.tw.
73
Patient communication.tw.
74
(Perce$ adj4 risk).tw.
75
Perceived personal control$.tw.
76
Satisfaction$.tw.
77
Elicit$.tw.
115
78
Perceived control.mp.
79
Personal control.mp.
80
20 or 21 or 22 or 23 or 24 or 25 or 26 or 27 or 28 or 29 or 30 or 31 or 32 or 33 or 34 or 35 or 36 or 37 or 38 or 45 or 46 or 47 or 48 or 49 or 50 or 51 or 52 or
53 or 54 or 55 or 56 or 57 or 58 or 59 or 60 or 61 or 62 or 63 or 64 or 65 or 66 or 67 or 68 or 69 or 70 or 71 or 72 or 73 or 74 or 75 or 76 or 77 or 78 or 79
81
19 and 80
82
Psychometric$.tw.
83
Validity.tw.
84
Reliability.tw.
85
Responsiveness.tw.
86
Effect size$.tw.
87
Sensitivity to change$.tw.
88
Reproducibility.tw.
89
Acceptability.tw.
90
Appropriat$.tw.
91
Precision.tw.
92
Interpretability.tw.
93
Feasibility.tw.
94
82 or 83 or 84 or 85 or 86 or 87 or 88 or 89 or 90 or 91 or 92 or 93
95
81 and 94
96
remove duplicates from 95
97
limit 96 to human
116