Press Release: The Center for Genomic Interpretation Calls upon Medical Insurers to Cover Confirmatory Testing of 23andMe Customers who are Positive for BRCA1 185delAG, BRCA1 5382insC, or BRCA2 6174delT
23andMe, Inc. recently began reporting three pathogenic variants known to increase a person’s risk for breast and ovarian cancer, among other hereditary cancers. These variants, reported by 23andMe as BRCA1 185delAG, BRCA1 5382insC, and BRCA2 6174delT, are some of the best studied and published pathogenic variants in Hereditary Breast and Ovarian Cancer syndrome. For many carriers of BRCA1 or BRCA2 pathogenic variants, receiving rapid and appropriate clinical intervention is lifesaving. The Center for Genomic Interpretation calls upon medical insurers to cover confirmatory testing of the BRCA1 185delAG, BRCA1 5382insC, or BRCA2 6174delT variants for 23andMe customers who test positive for any of these three variants. Customers, patients, clinicians, and policy makers should remain aware that most persons who are, or could be, diagnosed with Hereditary Breast and Ovarian [...]
CGI’s Project “High Throughput Whole Exome Genetic Variant Classification” Selected For €100,000 Hello Tomorrow Top 500 Deep-Tech Startup Competition
CGI's project "High Throughput Whole Exome Genetic Variant Classification" has been selected, among more than 3,000 startup projects, as part of Hello Tomorrow’s Top 500 deep-tech startups worldwide. We are excited to attend the Hello Tomorrow Global Summit in Paris on Oct 25-27th with other invited entrepreneurs, innovators, and investors in a competition to win the €100,000 top prize! UPDATE: While CGI was not selected as a winner of this project, CGI is excited to have been considered a finalist.
Close to half of breast cancer patients who chose to have a double mastectomy after genetic testing didn't actually have the gene mutations known to raise the risk of additional cancers, a new survey found.
After a 13-year-old boy's heart failed suddenly, his family arrived at Dr. Michael Ackerman's doorstep with questions. He was determined to find them answers. Since the boy's autopsy report seemingly failed to explain his death, more than 20 of his relatives underwent genetic testing for heart conditions that could put them at increased risk of the same fate. The tests diagnosed the family members, including the boy's brother, as having a potentially deadly genetic heart rhythm condition called long QT syndrome. As a result, a heart defibrillator was surgically implanted in the brother's chest to prevent any potentially fatal heart rhythms, or arrhythmias.
Doctors increasingly rely on genetic testing to help diagnose a patient’s illness or risk of getting a disease. Now a new study warns of the potential for the technology to lead to misdiagnosis. The study looked at gene mutations previously linked to the genetic heart condition called hypertrophic cardiomyopathy and found that some patients may be at risk of being falsely diagnosed with the disease because some of the mutations are... READ MORE
Christian Millare had a severe seizure on Jan. 5, 2008, and died. He was two years old. His mother Amy Williams is convinced, based on his medical records, the opinions of experts, and the published literature, that her son's life didn't have to come to such a premature end. Eight years later, Williams is suing Quest Diagnostics, one of the largest reference labs in the US, and its subsidiary Athena Diagnostics, which in 2007 tested Christian for mutations in the SCN1A gene. In a lawsuit filed last month in the fifth judicial circuit court in Richland County, South Carolina, Williams alleges that because Athena failed to follow federal lab regulations and accurately classify the genetic mutation causing her son's epileptic seizures, he continued to receive treatment that worsened [...]
At a time when genetic testing and genetically personalized treatments for cancer are proliferating, buoyed by new resources like President Obama’s $215 million personalized medicine initiative, women with breast cancerare facing a frustrating reality: The genetic data is there, but in many cases, doctors do not know what to do with it. That was the situation Angie Watts, 44, faced after she walked into a radiation oncologist’s office last June expecting to discuss the radiation therapy she was about to begin after a lumpectomy for breast cancer. Instead, Dr. Timothy M. Zagar of the University of North Carolina looked down at a sheet of test results and delivered some shocking news. A genetic test showed she had inherited an alteration in a gene needed to repair DNA. Radiation breaks DNA, so the treatment might actually [...]