Insights about the Genetic Basis for Concussion

Despite significant advances in treatment, sports-related concussion continues to plague athletes. Part of the reason for this is that the biological basis of concussion is poorly understood. Genetics play a key role in the biology underlying concussion. In this study,…

Genetic testing proves beneficial in prescribing effective blood thinners

A new research paper funded in part by the National Heart, Lung and Blood Institute (NHLBI) shows a clear advantage of genetic testing in helping health care providers choose the appropriate anti-platelet drug. Testing helps determine if a patient carries genetic variants in CYP2C19 that cause loss of its function. These variants interfere with the body’s ability to metabolize and activate clopidogrel, an anti-platelet medication.

GI OnDEMAND Announces Partnership with Ambry Genetics for Genetic Testing and Counseling Services

GI OnDEMAND®, gastroenterology’s leading multidisciplinary virtual integrated care platform today announced a partnership with Ambry Genetics®, a leading clinical genetic testing company, to integrate online genetic counseling and testing services into gastroenterology practices nationwide. This partnership addresses a critical clinical need for identifying hereditary GI cancer syndromes to help guide potentially life-altering health care decisions.
GI OnDEMAND, a joint venture between the American College of Gastroenterology and Gastro Girl, Inc., will now offer the CARE (Comprehensive, Assessment, Risk, and Education) Program™ from Ambry Genetics.

Mayo Clinic researchers develop test to measure effect of breast cancer gene variants

Researchers at Mayo Clinic have combined results from a functional test measuring the effect of inherited variants in the BRCA2 breast and ovarian cancer gene with clinical information from women who received genetic testing to determine the clinical importance of many BRCA2 variants of uncertain significance (VUS). The findings were published today in a study in the American Journal of Human Genetics.

Mutations Commonly Linked to Breast Cancer Found to Pose No Increased Risk, Population Study Reveals

Several genetic mutations previously linked to breast cancer and included on commercial genetic tests, including direct-to-consumer tests, were found not to increase a woman’s risk of disease, according to a population study of more than 64,000 women published online today in the New England Journal of Medicine from several institutions, including Penn Medicine.

Yale Cancer Center Study Shows Regional Variation in Genomic Testing for Men with Prostate Cancer

In a new study by Yale Cancer Center, researchers found substantial regional variation in use of genomic testing for prostate cancer, raising questions about access and other factors that might promote rapid adoption of new cancer technologies.

Mayo Clinic study finds 1 in 8 patients with cancer harbor inherited genetic mutations

Genetic testing can uncover inherited genetic mutations, and could individualize cancer therapies, improve survival, manage cancer in loved ones and push the boundaries of precision medicine.
In a new study published in JAMA Oncology, scientists with Mayo Clinic’s Center for Individualized Medicine conducted genetic testing in more than 3,000 patients who were diagnosed with cancer at Mayo Clinic Cancer Center locations in Arizona, Florida and Minnesota. In all, the scientists found that 1 in 8 patients with cancer had an inherited cancer-related gene mutation. This mutation would not have been detected in half of these patients using a standard guideline-based approach.

Genetic Testing for Kidney Diseases in Embryos from In Vitro Fertilization

• A recent analysis examines data from over the past 25 years concerning couples’ use of genetic testing for kidney diseases in embryos from in vitro fertilization.
• The analysis provides the first report on the types of genetic kidney diseases tested in this way, how often these tests result in live births of unaffected children, and what reasons couples cite for not undergoing testing.

Mayo researchers recommend all women with breast cancer diagnosis under age 66 be offered genetic testing

A study by researchers at Mayo Clinic published this week in the Journal of Clinical Oncology suggests that all women with a breast cancer diagnosis under the age of 66 be offered germline genetic testing to determine if they have a gene mutation known to increase the risk of developing other cancers and cancers among blood relatives. Current guidelines from the National Comprehensive Cancer Network (NCCN) recommend germline testing for all women diagnosed with breast cancer under the age of 46 regardless of their family history and breast cancer subtype.

Roberts Individualized Medical Genetics Center Outlines Framework for Centralized Approach to Genetic and Genomic Testing

In a special report published today in the journal Pediatrics, Roberts Individualized Medical Genetics Center researchers, physicians, and genetic and financial counselors describe the success of the model, their plans to build on that success for the future, and the important lessons learned from their first four years in operation.

Study Examines Genetic Testing in Diverse Young Breast Cancer Patients over a Decade

Researchers examined racial and ethnic differences in genetic testing frequency and results among diverse breast cancer patients diagnosed at age 50 or younger from January 2007 to December 2017. They found that among 1,503 diverse young breast cancer patients, less than half (46.2 percent) completed hereditary breast and ovarian cancer genetic testing. However, the percentage of women who completed genetic testing increased over time from 15.3 percent in 2007 to a peak of 72.8 percent in 2015.