What is Genetic Counseling?

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process combines:

  • Interpretation of family and medical histories to determine the risk for a disease, or recurrence of the disease
  • Education about inheritance, testing, management, prevention, resources and research.
  • Counseling to promote informed choices and adaptation to the risk or condition.

Adapted from the National Society of Genetic Counselors, 2005

What is a Genetic Counselor?

Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health and social work.

Genetic counselors work as members of a health care team, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions. They identify families at risk, investigate the problem present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence and review available options with the family.

Genetic counselors also provide supportive counseling to families, serve as patient advocates and refer individuals and families to community or state support services. They serve as educators and resource people for other health care professionals and for the general public. Some counselors also work in administrative capacities. Many engage in research activities related to the field of medical genetics and genetic counseling.

Adopted by the National Society of Genetic Counselors, Inc. 1983

Who might see a Genetic Counselor ?

Individuals and couples who may benefit from genetic counseling include:

  • Persons or families with a history of cleft lip or palate, congenital heart defects, spina bifida, short stature or other physical birth defects
  • Persons or families with genetic disorders such as Down syndrome, Huntington disease, cystic fibrosis, muscular dystrophy, PKU, hemophilia and other inherited disorders
  • Couples who have experienced infertility, multiple miscarriages, a stillbirth, or an early infant death
  • Persons or families affected with developmental delay, autism, learning disability, mental retardation, or hearing or visual impairments
  • Pregnant women whose ultrasound, triple screen, or other prenatal testing suggest an increased risk of complications or birth defects
  • Women age 35 years or older who are pregnant or considering a future pregnancy
  • Couples planning a pregnancy who are at higher risk for certain genetic conditions, including Tay-Sachs Disease or Beta Thalassemia
  • People with a personal or family history of certain types of cancer or other adult-onset conditions such as cardiac, psychiatric, or neurological disease
  • Pregnant women concerned about the effects of exposure to medication, drugs, chemicals, infectious agents, radiation or certain work conditions. This subspecialty is called teratology.
Is a Genetic Counselor a doctor?

Most genetic counselors are not physicians, but rather, have Master’s degrees in Genetic Counseling. Genetic counselors often work closely with doctors from all different specialties. In some situations, it may be necessary for a person to be seen by a doctor in addition to their genetic counselor to best address their circumstances.

What is Genetic testing?
  • Different types of genetic tests can provide various types of information to people about their health. Some tests provide information about whether or not a person has a particular condition now, other tests provide information about what a person’s chance is to develop a condition in the future, and others provide information about a person’s chance to pass a condition onto their children.
  • Some people who see a genetic counselor may be offered the choice of having a genetic test. Not everyone who has genetic counseling has genetic testing. For some people, testing is not appropriate given their particular personal and/or family history. A genetic counselor can help to determine if there is a test available that might be useful to you based on your history.
  • Whether or not a person has a genetic test is always their choice. Nobody has to have a genetic test.
  • Sometimes, a genetic test might be available, but it might be best to test another member of your family first. A genetic counselor can help determine who is the best person in the family to test, and also help you communicate with your family members about these decisions.
  • Genetic tests vary greatly in how much they cost. Some cost a few hundred dollars, while others cost a few thousand dollars.
  • Many genetic tests are covered by health insurance, but some are not. Your genetic counselor can often help you determine what your insurance might cover.

For more information on genetic counseling, "Making sense of your genes: A guide to genetic counseling", created by the Genetic Alliance and NSGC.


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Text for this site provided by Erin Houghton, MS, CGC Genetic Counselor, Ferre Institute, Inc