- 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 Heather Rocha, MS, CGC
- Posted February 10, 2026
The Gene Scene: LMNA
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 Caitlin Reid, MS, LGC, CGC
- Posted February 3, 2026
The Gene Scene: BMPR1A
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 Libby Couchon, MS, LCGC
- Posted January 27, 2026
The Gene Scene: KCNH2
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 December 16, 2025
The Gene Scene: KCNQ1
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 Anusha Klinder, MS, CGC
- Posted November 18, 2025
The Gene Scene: ACTA2
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 Sarah Kreykes, MS, CGC
- Posted October 28, 2025
The Gene Scene: DSP
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 Athena Puski, MS, CGC
- Posted October 7, 2025
The Gene Scene: LDLR
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…
- By Katherine Crawford, MS, CGC
- Posted August 19, 2025
The Gene Scene: SCN5A
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…
- By Ambry Genetics
- Posted May 15, 2019
Familial Hypercholesterolemia: A Silent Threat That is too Often Missed
Familial hypercholesterolemia (FH) is an inherited genetic disorder characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerotic cardiovascular disease (ASCVD), leading to early heart attacks and heart disease. One of the most common genetic disorders, FH affects 1 in 250 individuals in the United…