Understanding Genetic Counseling

Marsha Lanes, M.S. , C.G.C.National Organization for Rare Disorders, Inc. (NORD)

55 Kenosia AvenueP.O. Box 1968

Danbury, CT 06813-1968Phone: 203-744-0100

www.rarediseases.org

What is genetic counseling? Process of helping people understand

and adapt to the medical, psychological and familial implications of genetic contributions to disease.

Components of genetic counseling

• Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence

• Education about inheritance, testing, management, prevention, resources and research

• Counseling to promote informed choices and adaptation to the risk or condition

Who provides genetic counseling?

• Teams of genetics professionals

– Masters degree professionals certified by the American Board of Genetic Counseling (genetic counselors)

– Physicians certified by the American Board of Medical Genetics (clinical geneticists)

– Nurses with specialized genetics training

• Specialty clinics

• Primary care providers

When is genetic counseling provided?

Prenatal genetic counseling

• Mother 35+ years at delivery• Abnormal prenatal screening• History of a known or suspected genetic disorder,

birth defect or chromosomal abnormality• Exposure to known or suspected teratogen• Mother with medical condition that can affect fetal

development• Two or more pregnancy losses• Parents who are blood relatives• Ethnic background related to higher risk

Pediatric genetic counseling

• Abnormal newborn screening results

• Child with one or more birth defects

• Child with abnormal growth

• Child with mental retardation or developmental delay

• Blindness or deafness

• Known or suspected genetic disorder or chromosome abnormality

• Family history of known or suspected genetic disorder or chromosome abnormality

Adult genetic counseling

• Mental retardation

• History of hereditary cancers

• History of known or suspected genetic condition

• Blindness or deafness

• Development of a degenerative disease

• Pregnancy planning

What happens at a genetic counseling session?

• Assessment– Gathering information

• Evaluation– Interpreting medical and family history, results of physical

examination and tests

• Communication– Sharing information about the condition

• Support– Helping the family cope

• Follow-up– Maintaining on-going communication

Information provided• Symptoms and health problems

• Treatment options

• How the condition is inherited

• Risk to family members

• Risk to pass the condition to children

• Testing options

• Prenatal and reproductive options

Support provided

• Contact information for clinics managing patients with the condition

• Contact information for support groups or educational organizations

• Brochures, literature, internet resources tailored to patients

• Help patients process emotions

Follow-up provided

• Review information previously discussed

• Help patients process emotions

• Help patients make decisions

• Provide additional information

• Answer new questions

Why is family history important?

• Use as a diagnostic tool

• Helps to determine tests to consider

• Identifies family members at potential risk

• Helps to exclude genetic diseases

How to collect a family history

• Three generations

• Names and birthdates

• Racial/ethnic background

• Health status

• Age of death, cause of death

• Pregnancy outcomes

Red flags from family history

• Multiple family members affected

• Cancers with common cause

• Ethnicity

• Blood relatives

• Birth defects

• Mental retardation/developmental delay

• Unusual physical features

Red flags from family history (cont.)

• Genetic disorder/chromosome abnormality

• Blindness or deafness

• Neuromuscular condition

• Metabolic disease

• Adverse reproductive outcomes

• “Unusual” common disorders

Red flags from family history (cont.)

• Rare cancers or tumors

• Sudden premature death in a healthy person

Types of genetic tests

• Cytogenetic (chromosomes)

• Biochemical (enzymes/proteins)

• Molecular (DNA)

Reasons for genetic testing

• Diagnostic testing

• Newborn screening

• Carrier screening

• Prenatal screening and diagnosis

• Preimplantation genetic diagnosis

• Predictive/presymptomatic testing

• Pharmacogenetic testing

Informed consent for genetic testing

• Benefits

• Risks

• Limitations

• Cost

• Turn-around time

• Communication of results

Benefits of genetic testing

• Definitive diagnosis

• Risk for a specific disorder in family members

• Risk of developing a specific disorder

• Rule out specific conditions

Risks of genetic testing

• Physical

• Emotional/social

• Financial

• Beware of genetic tests marketed on the Internet

Limitations of genetic testing

• Clinical test may not be available

• “Positive” test does not always predict the future

• “Negative” test does not always rule out the condition

• Possibility of hard to interpret results

Genetics and insurance

• Determine if geneticist is an approved provider for insurance company

• Determine CPT codes for services that will be billed

• Types of genetic services covered is increasing

• Protection against insurance discrimination

Genetic counseling summary

• Educational communication process• Risk assessment from family history• Non-directive• All health care options discussed• Written summary provided• Follow-up counseling offered• Provided in a variety of health care

settings

Guidelines for families

• Collect and share family history

• Obtain medical records if requested

• Write down questions

• Speak up if you don’t understand

• Report any change in symptoms

• Make informed personal choices

Coping with genetic disease

• Disease specific support groups

• NORD

• Genetic Alliance

How to find a genetic counselor

• National Society of Genetic Counselors www.nsgc.org

• GeneTests www.genetests.org

• NORD www.rarediseases.org