Corrine Fillman, M.S., C.G.C.
Connective Tissue Gene Tests (CTGT)
6580 Snowdrift Road, Suite 300
Allentown, PA 18106
1
OUTLINE
• What is a genetic counselor?
• What does a genetic counselor
do?
• How can a genetic counselor help
me?
• Where can I find a genetic
counselor?
2
Genetic counselors are health professionals who
help individuals and families understand the
medical and psychological impact of genetic
disorders.
Genetic counselors work in multiple specialty
areas, including prenatal, cardiovascular
disease, cancer, metabolic disease, neurology,
pediatrics, infertility, and genomic medicine.
3
What is a genetic counselor?
Genetic counselors are health professionals with
specialized degrees.
• Bachelors Degrees: genetic counselors come from a variety of
backgrounds including biology, genetics, nursing, psychology,
public health and social work.
• Masters Degree: genetic counselors train in accredited graduate
programs* where they gain experience in counseling and medical
genetics. Genetic counseling students complete clinical rotations
and research/thesis work.
• Credentials: Genetic counselors obtain their credentials “Certified
Genetic Counselor (CGC®)”, from the American Board of Genetic
4
Counselors (ABGC) after passing a board examination*.
What is a genetic counselor?
Genetic counselors are unique professionals
because a counselor is trained in medical genetics,
counseling and education.
Medical Genetics*: They identify families at risk, investigate the
problem present in the family, interpret information about the
disorder, analyze inheritance patterns and recurrence risks and
review available options with the family.
Counseling: provide supportive counseling to families, act as
patient advocates* and organize support groups.
Education: serve as educators and resource people for other
health care professionals and for the general public. Create
educational brochures and pamphlets for families, the community,
health care providers and support organizations.
5
What is a genetic counselor?
Genetic counselors work as members of a health
care team in a variety of medical settings
including:
•
•
•
•
•
•
•
•
Prenatal Counseling
Familial Cancer Risk Counseling
Pediatric Counseling
Infertility clinics
Cardiovascular Genetics
Metabolism / Lysosomal Storage Diseases
Neurogenetics
Fetal Intervention & Therapy
6
What is a genetic counselor?
As genetics has expanded into other areas of
healthcare, genetic counselors have moved into
exciting new roles including:
•
•
•
•
•
•
•
Research
Diagnostic laboratories*
Educational and medical websites
Public health
Healthcare consulting
Marketing/product development
Policy development/advocacy
7
•Evaluate a medical and family history.
•Discuss the testing, surveillance, prevention strategies, or
research trials available to you and your family.
•Help explain personal risks or the risk for other family
members.
•Provide educational resources and contact information for
support groups.
•Provide educational resources for primary care physicians
and other specialists.
•Discuss reproductive risks and testing options.
•Provide non-directive counseling sensitive to your family’s
religious, ethnic, and personal feelings.
8
Prenatal Counseling
• Works with women who are pregnant or are
thinking about becoming pregnant.
• Records a personal history and a family history in
order to identify genetic risks.
– Ethnicity based carrier screening
– A family history of a genetic disorder
– An unusual finding on ultrasound
• Explains inheritance patterns such as dominant or
recessive.
• Discusses recurrence risks.
• Discusses testing options before a pregnancy and
during a pregnancy.
• Provides supportive counseling and makes
referrals to specialists and support groups when
needed.
9
Prenatal Counseling
Records a personal a family history in order to identify genetic risks.
Vietnam
Ethnicity
CF Carrier Risk in
People
with No Family History
of CF
Caucasian
1 in 25
Ashkenazi
Jewish
1 in 26
Hispanic
1 in 46
African
American
1 in 65
Asian
1 in 90
Vietnam
P
Cystic Fibrosis
Risk for father of baby to be a
carrier of cystic fibrosis
changes from 1/90 to 1/2
10
Familial Cancer Risk Counseling
• Works with people and families who have a history of cancer.
• Records a personal history and a family history.
• Provides risk analysis:
– Calculates the probability that a family has a mutation in a gene
associated with cancer.
– Calculates a person’s likelihood of developing cancer based on their
personal and family histories.
• Discusses the benefits, risks and limitations of genetic testing.
• Discusses the results of genetic testing.
• Discusses appropriate cancer screening and prevention
strategies.
• Provides supportive counseling:
– The goal is to empower a person so they can make informed
decisions about genetic testing, screening and prevention. Sensitive
and supportive counseling is critical when a person is dealing with
the emotional and psychological aspects of cancer.
11
Familial Cancer Risk
Counseling
Records a personal a family history in order to identify genetic risks.
Hereditary Breast and
Ovarian Cancer syndrome
(HBOC) is an inherited
tendency to develop breast,
ovarian and other cancers.
Family members can
be at increased risk
for other cancers.
Pancreatic Cancer
Susceptibly can be
passed from a father
to a daughter.
Breast Cancer
Breast Cancer
Ovarian Cancer
Men with BRCA
mutations have
increased risk of
developing breast
and prostate cancer.
Breast cancer
surveillance for
women starts early.
12
Pediatric/Adult Counseling
 Works with children and families who have a history of medical complications
and/or developmental delays.
 Records a personal history and a family history.
 Completes case preparation by obtaining pertinent medical records.
 Assists the geneticist with a physical exam that involves measuring a head
circumference, height, arms, legs etc.
 Explains genetic inheritance such as dominant and recessive.
 Discusses genetic testing strategies and explains the results of a genetic test.
 Explains the clinical findings associated with a genetic syndrome.
 Discusses recommended management, surveillance and prevention.
 Identifies family members who are also at risk and explains recurrence risks.
 Provides educational resources and contact information for support groups.
 Provides educational resources for primary care physicians and other specialists.
13
Pediatric/Adult Counseling
At 2 years old a girl is referred to a geneticist & genetic counselor for a history of a cleft palate. At
the appointment they complete a physical exam and take a personal/family history.
Hearing loss since childhood
Myopia
Chronic joint pain
Hearing loss
No vision problems
Myopia
Stickler syndrome,
type I
Medical Records:
Cleft palate identified prenatally
After birth the cleft palate was repaired
Normal kidney evaluation
Normal EKG of heart
Physical Exam:
Normal development
Flat nasal bridge
Small chin
14
My family member wants
more information and
possibly testing. How does
my family member in
Florida get tested?
How can I get
genetic
testing?
I want to participate in
research. Are there
opportunities available?
General resource: what has
changed since I was diagnosed?
Is there any new information,
research, treatments etc?
What support groups are
available. How can I get
involved and who do I
contact?
How can I inform my
doctor, family, school etc.
about Stickler syndrome?
What does my
genetic result
mean?
I am thinking about
having children. What is
the risk of having a child
with Stickler syndrome.
What can I expect? Are
there testing options
available during
pregnancy so I can
prepare?
15
You can locate a genetic counselor by visiting the National
Society of Genetic Counselors Website at
http://www.nsgc.org/ and entering your zip code.
16
Corrine Fillman, M.S., C.G.C.
Connective Tissue Gene Tests (CTGT)
6580 Snowdrift Road, Suite 300
Allentown, PA 18106
17