Newborn Screening: Survey of
Parents’ Views and Experiences
Robert Clark
Clinical Ethics and Law Group
Faculty of Medicine
University of Southampton
Newborn Screening
Modern Advancements?
Fragile X Syndrome?
Susceptibility to Type 1
Diabetes Mellitus?
Hereditary
Haemochromatosis?
Lymphoblastic Leukaemia?
Ethical Issues
For Current Tests & Susceptibility Tests
• Benefits and Harms
• Autonomy – parental and child
• Cost-effectiveness
Current Need for Consent?
‘‘newborn screening should be
mandatory and free of charge if early
diagnosis and treatment will benefit
the newborn’’.
National Screening Committee Leaflet available online at newbornbloodspot.screening.nhs.uk/
WHO GUIDELINES
Acceptable and effective
treatment protocol?
Understand the natural history
of the disease being tested
for?
A reliable screening test –
both for affected and
unaffected individuals?
Acceptable to the public?
Clear latency period before
disease onset?
Current Tests
E.g. Phenylketonuria
Susceptibility Tests
E.g. Type 1 Diabetes
Aims of the Study?
1. Do parents feel that they were adequately
consented for the heel-prick testing of their newborn
baby?
2. To what extent are parents satisfied with the follow
up communication and care that they received as
part of the UK Newborn Screening Programme?
3. What do parents think about incorporating
susceptibility testing for a range of common
conditions for example heart disease, diabetes and
cancer into the Newborn Screening Programme?
Method
• Paper survey
• Pilot study performed, n=6
• Different question styles – open, closed,
Likert scale
• Selection criteria – children <5 years
• Sample size – pragmatic approach
• Recruitment process
Response
•
•
•
•
4 nurseries
1 mother/baby toddler group
250 questionnaires handed out
80 returned
Figure 1: Age Distribution of Children Belonging to Respondents
Figure 2: Pie Chart to Show Gender Balance of
Respondents
25
Count
20
14%
15
Male
10
Female
5
0
86%
2007
2008
2009
2010
Year of Child Birth
2011
2012
CONSENT AND INFORMATION
What Percentage of
Respondents Remember
Giving Permission for the
Heel-Prick Test?
Were Parents Aware of
Their Right to Decide
Over Testing?
68
Aware
32
Not Aware
0
10
20
30
16
No
84
Yes
40
50
Percentage of Respondents
60
70
0
20
40
60
80
Percentage of Respondents
100
Did People Feel Consent Was Needed
for the Current Heel-Prick Test?
67
Yes
33
No
0
10
20
30
40
50
Percentage of Respondents
60
70
Did People Think the Heel-Prick Test is 100% Accurate?
69
<100% Accurate
31
100% Accurate
0
10
20
30
40
50
60
70
Percentage of Respondents
National Screening Committee Leaflet available online at newbornbloodspot.screening.nhs.uk/
Information Sources
Percentage of Respondents
70
60
50
40
30
20
10
0
Midwife
Hospital
Staff
Leaflet
Personal Antenatal
Child
Class
Health
Record
Sources of Information About NBS
GP
Internet
Other
Susceptibility Testing
Parental Opinion:
Testing Babies
Levels of Disease Risk
Testing to Discover
Whether Child Is at
Slightly More Risk*
of Developing
Certain Types of
Cancer
25
Strongly Agree
42
Parental Opinion
29
Agree
30
24
Not Sure
13
Testing to Discover
Whether Child Is at
Much Greater Risk*
of Developing
Certain Types of
Cancer
13
Disagree
8
9
Strongly Disagree
7
0
10
20
30
Percentage of Parents
40
50
Parental Opinion
Testing Babies
Age of Disease Onset
30
Strongly Agree
47
Testing Babies for
Conditions That Don't
Appear Until Young
Adulthood
36
Parental Opinion
Agree
40
24
Not Sure
12
Testing Babies for
Conditions that
Appear in Childhood
8
Disagree
0
3
Strongly Disagree
1
0
10
20
30
Percentage of Parents
40
50
Parent Opinion
Testing Babies
Untreatable Conditions?
Disagree, 14%
Agree, 54%
Not Sure, 32%
Etchegary H et al, 2010
 Paper survey, n=648, 2010
High levels of interest in testing for specific
disorders regardless of whether effective treatment
existed, or age of onset
93% parents felt informed consent should be
obtained before NBS
Parents’ Reasoning:
- opportunity to prepare for any special needs
- fundamental right to access any and all health
information about their children
Tercyak KP et al, 2011
 Online survey, n=219, 2011
Majority - benefits of susceptibility testing outweigh
risks.
All parents were educated about risk and ethical
implications when offered testing for themselves, yet
despite this parents offered testing were more inclined
to have their child tested.
Parents more readily anticipated the positives of
testing versus any negatives.
Conclusion Summary
• Informed consent remains important to
parents
• Lack of parental knowledge despite 86%
receiving information
• Expansion of NBS to include testing for future
diseases irrespective of age of onset, level of
susceptibility and lack of treatment options
appears to be supported by the majority of
parents
Future Implications
• Improve parental knowledge - ethical and
social concerns of testing
• Health care professionals should anticipate
the high level of interest shown by parents on
the subject and perhaps prepare to facilitate
discussion on the virtues of such testing.
Acknowledgments
•
•
•
•
Thank-you to the following people who have
helped me with my study:
Dr Angela Fenwick
Prof. Anneke Lucassen
Nurseries and play-group
Parents that responded to the survey
References
1. Etchegary H et al Interest in Newborn Genetic
Screening: A Survey of Prospective Parents
and the General Public. Genet Test Mol 2011
2. Tercyak KP. Parents Attitudes Toward
Paediatric Genetic testing For Common
Disease Risk. Paediatrics. May 2011