What is Genetic Counseling?

Based on your personal and family health history, your doctor can refer you for genetic counseling.

Genetic counseling gives you information about how genetic conditions might affect you or your family. The genetic counselor will collect information about your personal and family health history (usually 3-4 generations back) and any other medical records and examinations. Then they can assess whether a genetic test and which one is appropriate for you or for a relative.

Reasons for Genetic Counseling

  • Helps identify families or members of a family who are at possible risk of a genetic disease by collecting and examining family history and inheritance patterns and estimating the chances of inheriting a genetic disease.
  • Provides information about genetic testing and related procedures.
  • Genetic counselors are trained to present complex and difficult-to-comprehend information about genetic risks, testing, and diagnosis to families and patients.
  • They also discuss available options and can provide referrals to medical services, support groups and other health professionals.

Genetic counseling objectives:

  • Help the family comprehend better a genetic condition
  • Discuss options regarding disease management and the risks and benefits of further testing and other options
  • Bring the individual and family in touch with professionals that aim to guide them medically and/or psychologically
  • Reduce the anxiety related to a condition

Genetic counseling can take place pre, during or post-testing

  • Pre-testing : Helps understand the utility of genetic analysis as well as the possible results that may arise from it. After your genetic counseling session, you may decide to have genetic testing
  • Post-Testing : Genetic counseling after testing can help you better understand your test results and treatment options and refer you to other healthcare providers and advocacy and support groups.
  • During testing: in case the treating physician or the examinee asks for clarification

Stages in life, when genetic counseling may be needed:

Managing Your Health: Genetic counseling for adults includes specialty areas such as cancer, neurology and cardiology. Genetic counseling can be helpful if you have symptoms of a condition or have a family history of a condition that makes you more likely to be affected with that condition, including:

  • Hereditary cancer syndrome (e.g. breast, ovarian, colon, kidney, etc.)
  • Familial hypercholesterolemia
  • Muscular dystrophy and other muscle diseases such as Pompe disease
  • Neurological diseases (e.g. Charcot-Marie-Tooth, familial amyloid polyneuropathy, autosomal dominant ataxias, etc.)
  • Inherited metabolic disorders such as Gaucher disease, Tay-Sachs disease, Fabry disease, Friedreich's ataxia, etc.
  • Single-gene genetic diseases such as Neurofibromatosis type 1 and 2, Huntington's disease, etc
  • Cardiovascular diseases such as cardiomyopathies, arrhythmogenic syndromes and inherited aneurysm-related angiopathies (including syndromic forms such as Marfan, Noonan, Costello, etc.)
  • Mitochondrial diseases inherited exclusively from the mother such as MELAS and MERRF syndromes
Managing your health and your family’s health: Having been diagnosed with a disease, such as cancer or a neurological or cardiovascular disease, your doctor may may ask you to go through genetic testing. This will help you:
  • Planning for Pregnancy: Genetic counseling before you become pregnant can address concerns about factors that might affect your baby during infancy or childhood or your ability to become pregnant.
  • Genetic conditions that run in your family or your partner’s family
  • Genetic defects (birth defects)