NEWS
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Genetic Testing Challenges in Oncology: 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, rural community practice to see a surgeon at a large cancer center…
Genetic Testing Challenges in Oncology: 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 healthy individuals but also in those with a genetic disorder…
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...
Genetic Testing Challenges in Oncology: 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 options. The patient was tested when she was 22 years…
Genetic Testing Challenges in Oncology: 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 suspected Peutz-Jeghers syndrome (PJS), since intussusception and large, mushroom-like…
Genetic Testing Challenges in Oncology: Consumer Genomics Reveals More Than Fun Traits
Around a decade ago, a psychologist in her mid-50s attended a wellness conference, where everyone was discussing a popular direct-to-consumer genetic testing company. The possibility of learning about the underlying genetics of her inherited traits piqued her interest. She decided to get tested, unaware that this consumer genomics company would also test genes that could…
Healthcare Providers Adjust to Anti-Information Blocking Regulation Impact on Patient Interactions
Doctors, particularly oncologists, are worried that the US government’s anti-electronic health information blocking regulations that went into effect four months ago are disrupting their already overstretched schedules and interactions with patients.
Genetic Testing Challenges in Oncology: Inaccurate Patient Claims Complicate Cancer Risk Management
A 46-year-old woman who claimed to have pathogenic variants in both BRCA1 and BRCA2 genes and a strong family history of breast cancer came to a surgeon seeking risk-reducing mastectomies. Although this woman did not have breast cancer, based on her account of her genetic and familial risk factors, the surgeon scheduled the patient for…
Genetic Testing Challenges in Oncology: Immigrant Mislabeled as BRCA-Positive, Regrets Ovary Removal
A 36-year-old, non-English-speaking, female emigrant from the Middle East came to see a genetic counselor at a California healthcare system in 2019. She had recently moved to the state, and in the process of reestablishing care at a large academic healthcare facility, was referred for genetic counseling due to her history of breast and thyroid…