Genetic Disorders and Birth Defects

What is genetic counseling?

A Answers (3)

  • Genetic counseling (or consultation) is a service 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. During appointments, genetics professionals may 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.   A genetics professional providing genetic counseling could include a doctor specializing in genetics (medical geneticist) or a genetic counselor. 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 psychologists, nurses, and social workers with training in genetics also offer genetic counseling.

  • APeter Hulick, MD, Clinical Genetics, answered on behalf of NorthShore University HealthSystem
    Peter Hulick, MD - What is genetic counseling for genetic disorders?

    Learn more from Dr. Peter Hulick on behalf of NorthShore University about genetic counseling for genetic disorders.

  • AHealthwise answered

    Genetic counseling is guidance given by a health professional (genetic counselor or medical geneticist) who is trained to help people understand their risk of getting a disease related to genetics or of having a child with an inherited (genetic) disease, such as sickle cell disease, cystic fibrosis or hemophilia. Genetic counseling may involve:

    • Teaching a parent or couple about how a specific disease is inherited or passed from parents to a child.
    • Discussing what problems a genetic disease may cause.
    • Discussing whether and how to test for a genetic disease before a woman becomes pregnant or before a child is born.
    • Discussing the likelihood, based on test results, that the couple will have a child with a genetic disease.
    • Helping a person adapt to the risk of developing a genetic disease such as Huntington's disease. Genetic counselors also can help a person deal with having a disease related to genetics.
    • Helping individuals, couples or families make decisions about genetic testing and any related actions that are right for them.

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