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Genetic Testing Challenges in Precision Medicine: Lab Fails to Report NF2 Mosaic Variant
When a Lab Stays Silent: A Missed Mosaic Variant and a Four-Year Diagnostic Odyssey 2026 A 10-year-old girl with bilateral vestibular schwannomas had a striking family history: a mother with a childhood brain tumor, multiple relatives with breast and ovarian cancer....
Genetic Testing Challenges in Precision Medicine: Second Testing Round Reveals Atypical CF
This cystic fibrosis genetic testing case from My Gene Counsel's Genetic Testing Challenges in Oncology series shows how genetic counselors can catch complex, overlapping diagnoses that a routine specialist referral might otherwise miss. A 59-year-old man had been...
Precision Medicine Pilot Launches at Pacific Cancer Care Leveraging N-Power Medicine’s Point-of-Care Platform to Expand Access to Guideline-Based Genetic Testing
NEW HAVEN, Conn., April 9, 2026 /PRNewswire/ -- My Gene Counsel today announced the launch of a new precision medicine pilot program at Pacific Cancer Care in Monterey, CA, leveraging N-Power Medicine's prospective, point-of-care platform to expand patient access to...
Genetic Testing Challenges in Precision Medicine: Inadequate Relay of Test Limits Delays Diagnosis
Genetic Testing Challenges in Precision Medicine: Inadequate Relay of Test Limits Delays Diagnosis January 27, 2026 A Cascade Testing Failure Traced to a Buried Limitation An oncologist referred a 76-year-old woman with breast cancer for genetic counseling after...
My Gene Counsel and FamGenix Announce Strategic Partnership to Transform Genetic Risk Assessment and Patient Education
Digital tools allow partners to scale precision medicine NEW HAVEN, Conn. and FARGO, N.D., March 18, 2025 /PRNewswire-PRWeb/ -- My Gene Counsel, a leader in digital genetic counseling solutions, and FamGenix, a pioneering platform for family health history and...
Laboratory Consolidation, Billing, Digital Tools, and Skillset Adaptation: The Evolving Future of Genetic Counseling and Testing
My Gene Counsel CEO Ellen Matloff will be leading a panel of genetic counselors on the future of genetics in precision oncology and the essential roles genetic counselors will have as the field progresses. This panel is part of the 2024 Precision Medicine Leaders...
Genetic Testing Challenges in Precision Medicine: Parents’ Tragedy After Wrong Tay-Sachs Test Order
A 29 year-old Ashkenazi Jewish woman completed pre-pregnancy carrier screening and was found to be a carrier for Tay-Sachs and Spinal Muscular Atrophy (SMA). In order to determine if her husband was a carrier for Tay-Sachs, his doctor ordered testing to check his...
Genetic Testing Challenges in Oncology: Lynch Syndrome Variant in Patient Lacking Family History
A primary care doctor referred a 39-year-old Ashkenazi Jewish woman for genetic counseling because of a known familial BRCA2 variant. The patient was also undergoing egg retrieval for in vitro fertilization and had told her doctor she would consider pre-implantation...
Full Family History Helps ID Lynch Syndrome Founder Variant
A 35-year-old man sought out genetic counseling because his mother had a pathogenic variant in MSH6. The patient's family history also revealed a paternal relative with pancreatic cancer which, in addition to his Ashkenazi Jewish ancestry, prompted the GC to offer...