Corrine Fillman, M.S., C.G.C.Connective Tissue Gene Tests (CTGT)6580 Snowdrift Road, Suite 300Allentown, PA 18106 1

• 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?

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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.

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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 Counselors (ABGC) after passing a board examination*.

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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.

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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

What is a genetic counselor?

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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

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•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.

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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

Records a personal a family history in order to identify genetic risks.

Cystic Fibrosis

P

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 Vietnam

Risk for father of baby to be a carrier of cystic fibrosis changes from 1/90 to 1/2

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• 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.

Familial Cancer Risk Counseling

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Breast Cancer

Breast CancerOvarian Cancer

Men with BRCA mutations have increased risk of developing breast and prostate cancer. Breast cancer surveillance for women starts early.

Family members can be at increased risk for other cancers.

Susceptibly can be passed from a father to a daughter.

Pancreatic Cancer

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.

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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.

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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.

Physical Exam:Normal developmentFlat nasal bridgeSmall chin

Medical Records:Cleft palate identified prenatallyAfter birth the cleft palate was repairedNormal kidney evaluationNormal EKG of heart

MyopiaHearing lossNo vision problems

Hearing loss since childhoodMyopiaChronic joint pain

Stickler syndrome, type I COL2A1 mutation 14

What does my genetic

result mean?

General resource: what has changed since I was diagnosed? Is there any

new information, research, treatments etc?

How can I get genetic

testing?

How can I inform my doctor, family, school

etc. about Stickler syndrome?

My family member wants more

information and possibly testing. How

does my family member in Florida get tested?

I want to participate in research. Are

there opportunities available?

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?

What support groups are available. How can I get involved and who

do I contact? 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.

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Corrine Fillman, M.S., C.G.C.Connective Tissue Gene Tests (CTGT)6580 Snowdrift Road, Suite 300Allentown, PA 18106 17