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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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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Speaking Genetics: A Glossary of Cancer Risk Genes

Speaking Genetics: A Glossary of Cancer Risk Genes

For some, it may seem like certain types of cancers "run in the family." This can be due to shared behaviors or exposures that increase cancer risk, or an abnormal genetic change that's passed down from generation to generation. Over the past 25 years, beginning with...

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Same Multigene Cancer Risk Panel Not Right for All

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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BRCA1 Variant Downgraded After Risk-Reducing Surgery

BRCA1 Variant Downgraded After Risk-Reducing Surgery

A 27-year-old woman, who five years earlier had learned she harbored a pathogenic variant in the BRCA1 gene, was now considering removing her breasts and ovaries to reduce her risk for breast and ovarian cancer. She came to see a genetic counselor to discuss her...

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Missed Clues Delay Peutz-Jeghers Diagnosis

Missed Clues Delay Peutz-Jeghers Diagnosis

A woman in her 40s had surgery to remove a gynecologic tumor. During the procedure, the surgeon noted that she had numerous polyps in her small intestine that may be causing it to undergo intussusception, meaning one section of bowel slides into the next. The surgeon...

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