- 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.…
- By JoeyLynn Nolan
- Posted February 25, 2026
Joey’s Story: A Mother’s Reflection for Rare Disease Month
Not only during Rare Disease Month, but every day, I think of my son Joey. He was only with us for seven months, but he changed our lives in ways that are hard to put into words. I share his story to honor him, and to help others understand TBC1D24 disorder, a condition so rare that most families don’t hear its name until it becomes…
- By Brittaney Carpenter
- Posted February 18, 2026
Navigating the Unknown: A Story of Resilience, Hope, and Advocacy in Rare Disease
Brittaney Carpenter is the type of woman who does it all and makes it look effortless—small business owner, wife and mother of three, and an accomplished multitasker, managing career, household, kids, a flock of chickens and a dog. She joined us for Rare Disease Month to talk about the birth of her son Emmett and what it was like to learn he…
- By Brooke Sample, MS, CGC
- Posted February 17, 2026
The Gene Scene: RPE65
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.…