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Webinar: Lessons Learned from COVID-19 Regarding Digital Health Resources – Considerations for Genetics and Beyond
Over the past eight weeks, in the face of a pandemic, the world has been forced to adopt digital resources instantaneously, and this includes the world of healthcare. It is likely that moving forward our health systems will continue this adoption to better and more efficiently work with patients and referring clinicians.
Genetic Testing Challenges in Oncology: Patient with BRCA1 VUS Has Prophylactic Surgery
A woman in her 40s visited a general surgeon for non-cancer related reasons and was assessed for her hereditary risk for cancer. The patient did not have a personal history of cancer, but her mother, who is in her 60s, had recently been diagnosed with breast cancer and had reportedly had ovarian cancer in her late 40s.
Germline Genetic Testing, Counseling Move Remote as Pandemic Limits In-Person Care Capacity
Many healthcare systems in recent weeks have had to shift available resources and in-person care plans to increase capacity for a potential influx of SARS-CoV-2 infected patients.
Genetic Testing Challenges in Oncology: 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.
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 I find the study of epigenetics fascinating and finally agreed to sign on.
Genetic Testing Challenges in Oncology: 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 ordered testing the prior year and told her she was negative.
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...