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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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What The NYTimes Got Wrong on Prenatal Screening

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...

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Prior Retinoblastoma Not Considered in Test Ordering

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...

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Prior Retinoblastoma Not Considered in Test Ordering

No Follow-up on Insurer Denial Delays Cancer Risk Management

A 44-year-old woman with breast cancer came to see a surgeon to discuss risk-reducing surgical options. Three years earlier, she had also been diagnosed with papillary thyroid cancer. Now, because of her breast cancer diagnosis, the patient had come from a small,...

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Prior Retinoblastoma Not Considered in Test Ordering

Same Multigene Cancer Risk Panel Not Right for All

A 60-year-old woman with breast cancer and a history of various cancers in her family came to see a genetic counselor to discuss genetic testing to guide her treatment and risk management. The woman also had two café-au-lait macules, a birthmark that can occur in...

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Digital Health Dominates Roaring Genomics Market

Digital Health Dominates Roaring Genomics Market

The leading healthcare and precision medicine companies are focused on commercial growth that relies on genome-driven personalization of healthcare, and for that, they are turning to digital health technology companies. The race to build a comprehensive suite of...

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Press Releases

Multimedia

Genetic Testing Errors Negatively Impact Therapeutic Decision Making

Top Errors in Genetic Testing

In today's episode we take a look at some of the significant challenges and errors we are seeing in the use of genetic and genomic testing, as they become mainstreamed into our clinical treatment protocols. Today we highlight the Top Errors in Genetic Testing and how...

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NSGC 2021 Poster Presentation Video

NSGC 2021 Poster Presentation Video

Exponential growth is occurring in clinical genomics. A patient found to have a pathogenic variant 10 years ago has likely lived through dozens of updates to risk estimates and management guidelines related to that diagnosis.

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Genetic Counseling Webinar September 2021

Genetic Counseling Webinar September 2021

Given the rapid and numerous developments in the field of genetics, there is a growing demand for genetic counselors in nearly every area of medicine, as well as a need for students that represent all of us. This includes people of color, men, members of the LGBTQIA+...

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Publications