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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

How do I find a genetic professional?

Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic.

As more has been learned about genetics, genetic professionals have grown more specialized. For example, they may specialize in a particular disease (such as cancer genetics), an age group (such as adolescents) or a type of counseling (such as prenatal).



Next: How do I decide whether I need to see a geneticist or other specialist? »

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Genetic Counseling

What is pycnodysostosis?

Pycnodysostosis is perhaps best known as the diagnosis given retrospectively to the late 19th century French artist Henri de Toulouse-Lautrec (portrayed by Jose Ferrer in the 1952 film "Moulin Rouge").

Pycnodysostosis is a genetic (inherited) disease of the bone. Its pattern of inheritance follows the classic rules of genetics (see below).

Pycnodysostosis consistently causes short stature. The height of adult males with the disease is less than 150 cm (59 inches, or 4 feet 1 inch). Adult females with pycnodysostosis are even shorter.

Pycnodysostosis causes the bones to be abnormally dense (osteosclerosis); the last bones of the fingers (the distal phalanges) to be unusually short; and delays the normal closure of the connections (sutures) of the skull bones in infancy, so that the "soft spot" ...

Read the Pycnodysostosis article »











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