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Genetic Counseling

Frequently Asked Questions About Genetic Counseling

What are genetic professionals and what do they do?

Genetics professionals are health care professionals with specialized degrees and experience in medical genetics and counseling. Genetics professionals include geneticists, genetic counselors and genetics nurses.

What is genetic counseling and evaluation?

Genetic professionals work as members of health care teams providing information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic professionals:

  • Assess the risk of a genetic disorder by researching a family's history and evaluating medical records.

  • Weigh the medical, social and ethical decisions surrounding genetic testing.

  • Provide support and information to help a person make a decision about testing.

  • Interpret the results of genetic tests and medical data.

  • Provide counseling or refer individuals and families to support services.

  • Serve as patient advocates.

  • Explain possible treatments or preventive measures.

  • Discuss reproductive options.

Additional Resources




Next: How do I find a genetic professional? »

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Genetic Counseling

Usher Syndrome »

What is Usher syndrome?

Usher syndrome is the most common condition that affects both hearing and vision. A syndrome is a disease or disorder that has more than one feature or symptom. The major symptoms of Usher syndrome are hearing loss and an eye disorder called retinitis pigmentosa, or RP. RP causes night-blindness and a loss of peripheral vision (side vision) through the progressive degeneration of the retina. The retina is a light-sensitive tissue at the back of the eye and is crucial for vision. As RP progresses, the field of vision narrows - a condition known as "tunnel vision" - until only central vision (the ability to see straight ahead) remains. Many people with Usher syndrome also have severe balance problems.

There are three clinical types of Usher syndrome:

  • type 1,
  • type 2, and
  • type 3.

In the United States, types 1 and 2 are the most common types. Together, they...

Read the Usher Syndrome article »









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