genetic testing Flashcards

1
Q

most appropriate management for a patient who wants to get tested for certain genetic condition is

A

obtain a 3 generation family history

allows the clinician to identify people who are at increased risk for developing certain conditions

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2
Q

up to — of genetic syndromes is detected with a family history

A

40%

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3
Q

features that suggest a genetic inherited condition include:

A

earlier age of onset than expected for a common dx

two or more relatives with same disorder especially if disorder is uncommon or known to be caused by a single gene mutation

presence of a dx in the less often afflicted gender (breast cancer in a man)

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4
Q

when to get genetic counseling?

A

when you are sending someone to get genetic testing

genetic counseling provides education on the condition being tested, natural history, risks and benefits for genetic testing

alternatives to testing and option to forego testing

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