- By Charlie King, MGC, CGC
- Posted April 14, 2026
The Gene Scene: HPDL
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Frankie Fann, MS, CGC
- Posted April 9, 2026
A Hidden Cancer, Found in Time: One Patient’s CARE Journey
Germline genetic testing, also known as hereditary cancer testing, can reveal inherited risks for certain cancers long before symptoms appear. For many patients, this knowledge opens the door to proactive screening and early detection, when cancers may be easier to treat. By routinely assessing which patients may be at increased hereditary risk,…
- By Grant Bonesteele, MS, CGC
- Posted April 7, 2026
The Gene Scene: GAA
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Frankie Fann, MS, CGC
- Posted March 25, 2026
The CARE Difference: A Smarter Workflow for High‑Risk Screening
Patients with elevated cancer risks are often unidentified within healthcare systems for a variety of reasons, including fragmented workflows and limited access to cancer risk assessment tools. Danielle Rogers recently shared her experience with providing personalized assessments of cancer risks before and after implementation of the Ambry CARE…
- By Rachel Bluebond, MMSc, CGC
- Posted March 24, 2026
The Gene Scene: SMAD4
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Haaniya Mallick, MS, CGC
- Posted March 17, 2026
The Gene Scene: CASQ2
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Cassidy Janis, MS, CGC
- Posted March 11, 2026
Making Waves with MAVES
From Uncertainty… Cassidy: When I met with my patient in late 2021, she had already faced bilateral breast cancer. First at age 52, and again in the other breast at age 55. In terms of family history, she only had a brother who was diagnosed with brain cancer and testicular cancer, so her family history didn’t indicate there was a strong…
- By Katherine Crawford, MS, CGC
- Posted March 10, 2026
The Gene Scene: CALM2
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Seth Berger, MD PhD
- Posted March 4, 2026
Where Genomic Insights Meet Clinical Action
We recognize Rare Disease Day every year on on February 28, but for Ambry, the work of Rare Disease is a year-round effort. It is an ongoing mission. In addition to my work in Research and Development at Ambry, I continue to see patients part-time because their stories constantly inspire me. While all the families I've worked with through the years…
- By Caitlin Reid, MS, LGC, CGC
- Posted March 3, 2026
The Gene Scene: RB1
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…