NEWS
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Confusion Over Colon Cancer Syndromes Leads to Wrong Testing
During a visit with a new primary care physician, a 45-year-old man told his doctor that he had a family history of cancer and Lynch syndrome, a hereditary condition that increases the risk for colon, uterine, and other cancers. He also recounted that he had tested...
Despite Barriers, Labs Starting to Report Suspected Cancer Risk Mutations Seen in Tumor Testing
Paired tumor/germline testing is far from standard practice in cancer care, but some experts in the field are advocating that when patients have their tumors genomically profiled to determine precision medicine options, that is an opportunity to also evaluate them for...
A Genetic Counselor’s Take on Why America Should Not Collect DNA From Migrants
Last week, three House Democrats called on the Department of Homeland Security (DHS) to stop collecting DNA from migrants in government custody. Democratic Reps. Rashida Tlaib (MI), Veronica Escobar (TX), and Congressional Hispanic Caucus...
Mirror, Mirror, On the Wall: The Epigenetics of Aging
A few months ago, I received an email from a company called Chronomics that tests for epigenetic changes in your DNA. I'm still a bit scarred from my personal direct-to-consumer testing experience, so I was initially reluctant to explore yet another genetic test. But...
Patient Told Genetic Test Was Negative Turns Out to Be MAP Carrier
A 49-year-old woman with a maternal family history of breast cancer was seen in a high-risk breast clinic. Both her mother and grandmother had breast cancer at an early age. Because her mother had reportedly declined genetic testing, the woman's OB/GYN had...
With More Than a Million Records, ClinVar Value Grows as Variant Classification Resource
Since its launch in 2013, ClinVar has not only amassed a wealth of genetic variant information, but the lab and clinical genetics community in the US are readily referencing it when they have questions about the clinical significance of variants. A few healthcare...
Precision Oncology in 2019: Growing Options Highlight Gaps in Healthcare Delivery System
2019 was another banner year for precision oncology with the approval of a number of drugs targeting novel genomic alterations, the availability of a third pan-cancer indication, and the commercial launch of new biomarker tests for predicting drug response, such as...
Personalized Medicine in 2019: Options Increasing But Are They Reaching Patients?
In 2019, the field of personalized medicine continued to grow with the market launch of more than two dozen drugs targeting novel genomic alterations and numerous genetic tests to determine whether patients are at risk for serious diseases like cancer, and whether...
Why the Pentagon Is Warning US Military Not to Use Recreational Genetic Test Kits
For years, many of us in the genetics community have strongly suggested that consumers think long and hard before ordering recreational genetic test kits for Christmas – or any other occasion. But when the Pentagon sends a stern warning to its military members, even...