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My Gene Counsel and Ambry Genetics Educate Consumers About Genetic Testing
Direct-to-consumer (DTC) genetic testing has come a long way in popularity, but it still has a long way to go in accuracy. As of February 2019, more than 26 million consumers had tried DTC genetic testing to learn more about their ancestry or uncover genetic...
Genetic Testing Challenges in Oncology: False Positive After Testing at Pop-Up Booth
During a genetic counseling session with a 35-year-old woman and her mother, it came to light that the mother received genetic testing in a non-traditional setting. Neither the mother nor the daughter had a personal history of cancer, but the mother’s sister reportedly had a history of breast, ovarian, and colon cancers, as well as…
As Access to Genetic Testing Is Growing, Travel Time Remains Barrier to In-Person Counseling
NEW YORK - People around the US, regardless of whether they live in a large city or a remote village, can now order genetic tests online to learn their inherited risks for serious diseases, such as cancer. But what do individuals do after they learn their risks? How...
Waiting for the Sign That Protections Are Needed for Genetic Data? Here It Is.
I just attended the National Society of Genetic Counselors Annual Meeting in Salt Lake City, UT where I met some of the brightest minds in genetics, heard about mind-bending new technologies, and was reminded of the many ways that genetic counseling and...
Genetic Testing Challenges in Oncology: Appropriate Clinical Management of BRIP1 Variant of Unknown Significance
While reviewing the breast cancer screening recommendations for a 28-year-old woman, a nurse practitioner at a high-risk breast clinic noted incongruencies in the family’s understanding of genetic test results. The woman had been recommended to the clinic based on a history of breast cancer among several paternal and maternal relatives and after genetic testing revealed…
What Beyoncé’s Dad and Angelina Jolie Have in Common
Beyoncé's father, Matthew Knowles, recently went public with the announcement that he has breast cancer and carries a mutation in a gene called BRCA2. He joins Angelina Jolie as a celebrity who has shared their private medical and genetic history in order to raise...
Large-Scale Multigene Panel Study of Hereditary Cancer Risk Refines Gene Associations
NEW YORK – Investigators at Ambry Genetics, the Mayo Clinic in Rochester, the University of Utah, and the University of California at Irvine have tapped into Ambry's large collection of multigene panel test results to clarify hereditary cancer associations in...
My Gene Counsel Weighs in on Large-Scale Multigene Panel Study of Hereditary Cancer Risk
Investigators at Ambry Genetics, the Mayo Clinic in Rochester, the University of Utah, and the University of California at Irvine have tapped into Ambry's large collection of multigene panel test results to clarify hereditary cancer associations in high-risk patients...
Complex Genetic Testing Errors Emerge Amid Increasing Panel Use, Consumer Access, Case Series Finds
Errors in the ordering and interpretation of genetic tests for cancer, as well as in communicating results, are continuing to occur, and a newly published report highlighting some of these errors suggests that the nature of the mistakes are reflective of the rapid...