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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...

The Medical Side Effect We Must Stop Ignoring: Financial Toxicity
A few months ago, two sisters published an essay in The New York Times about their genetic testing journey, which started because their mother was found to have a mutation in one of the BRCA genes. People who have a mutation in one of the BRCA genes are at increased...

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...

Meet the Expert Geneticist Who Fought Against Patenting Your BRCA Gene
Ellen Matloff, MS, CGC is a certified genetic counselor and the President and CEO of My Gene Counsel, a digital health company that provides scalable, updating genetic counseling solutions. Matloff founded the Yale Cancer Genetic Counseling program, served as its...

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...

Tennis Star Chris Evert Teaches Us That Genetic Testing Is a Lifetime Match
This weekend, Chris Evert tweeted that she was diagnosed with early-stage (Stage 1C) ovarian cancer, which is associated with an outstanding survival rate. This news is especially good because most people diagnosed with ovarian cancer are diagnosed at stage III or IV,...

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...

What The NYTimes Got Wrong on Prenatal Screening
On January 1, The New York Times published an article, "When They Warn of Rare Disorders, These Prenatal Tests Are Usually Wrong," followed by a discussion with the author on their popular podcast, The Daily, entitled, "An Investigation into Flawed Prenatal Tests." As...

Prior Retinoblastoma Not Considered in Test Ordering
A woman in her 20s was concerned about her risk for breast cancer because her mother had previously had it. She saw a medical oncologist and wanted to be tested to see if she had inherited any pathogenic genetic variants that could increase her risk for developing...