Doc Tells Patient with Familial Risks to Get DTC Testing

Doc Tells Patient with Familial Risks to Get DTC Testing

A woman experiencing joint and mobility issues turned to holistic medicine after feeling that her regular doctors weren't adequately addressing her health problems. In recounting her health history to a new doctor, she also shared that she was concerned about her...

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Muddled Reporting, Interpretation of PALB2 VUS

Muddled Reporting, Interpretation of PALB2 VUS

A woman's physician ordered multi-gene panel testing due to her family history of cancer and told her that the lab had found two "errors" in the PALB2 gene. Compared to the general population, patients with a pathogenic variant in PALB2 have between a 20 percent and...

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Myotonic Dystrophy Signs Missed in Uterine Cancer Patient

Myotonic Dystrophy Signs Missed in Uterine Cancer Patient

An oncologist referred an endometrial cancer patient to a genetic counselor because she was diagnosed at a young age – before age 50. The patient had already undergone surgical treatment before the oncologist referred her to a genetic counselor. After taking a...

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As a Screen

As a Screen

A recent New York Times investigation found that many non-invasive prenatal tests often incorrectly give positive results for a number of rare genetic conditions, but geneticists say the article did not distinguish between screening and diagnostic tests. At his...

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