- By Meghan Towne, MS, CGC, LCGC
- Posted April 2, 2024
Family Trios Gene Reclassification: Optimizing Diagnostic Potential Impact of Exome Sequencing
The ability of exome sequencing (ES) to detect variants across the genetic code makes it a powerful diagnostic tool, reducing the number of tests and time to diagnose patients with rare disorders. However, with this broad detection range comes the challenge of identifying which of hundreds or thousands of rare variants may be clinically meaningful…
- By Marcy Richardson, PhD
- Posted March 28, 2024
APC: New Takes on an Old Gene
A Brief History of APC The APC pathway was discovered in 1982 (more than 40 years ago!). APC is a tumor suppressor gene, meaning it helps the cell division process happen in a controlled way, which helps prevent tumor development. In 1991, Kinzler and Vogelstein discovered that pathogenic variants in the APC gene are…
- By Sarah Campian, MS, CGC
- Posted March 20, 2024
Empowering Patient-Centric Breast Care: How The Ambry CARE Program™ Provides Evolving, Personalized Risk Assessment
How would you respond if a patient asked, "What is my risk of getting breast cancer"? We may initially reference the national average: 1 in 8 (or about 13% of) people assigned female at birth (AFAB) develop breast cancer.1 However, we live in an age of personalized medicine; this statistic cannot be applied universally to every patient. Further,…
- By Shoji Ichikawa, PhD
- Posted March 19, 2024
The Benefits of RNA Testing for Neurological Disorders
Introduction Clinical genetic testing is a powerful diagnostic tool for neurological disorders. The utility of genetic testing can be diminished by the large number of variants of uncertain significance (VUS). Variant classification for neurological disorders has additional challenges because clinical evidence is often limited. The biggest limitation…
- By Tom Schoenherr
- Posted March 7, 2024
Celebrating Women's History Month
As we embark on Women's History Month, it is crucial to shine a spotlight on individuals and organizations that champion the values of equity, diversity and inclusion. This year's theme, "Women Who Advocate for Equity, Diversity, and Inclusion," provides an opportunity to explore how companies like Ambry Genetics are paving the way for inclusivity.…
- By Jennifer Herrera-Mullar, MGC, CGC, DMA
- Posted March 5, 2024
Greater than the Sum of its Parts: Gene-Disease Validity and Breast Cancer
One in every eight women will develop breast cancer in her lifetime.1 Considering there are 167.5 million women currently living in the United States,2 on a population level, that is a large number of women who will develop breast cancer. The vast majority of breast cancer cases are due to a combination of factors including, but not limited to:…
- By Elizabeth Chao, MD, FACMG
- Posted February 29, 2024
10 Ways Genetic Laboratories Can Support the Rare Disease Community
Rare diseases are not as rare as one might think—there are more than 6,000 identified rare diseases affecting over 300 million people worldwide. Over 70% of rare diseases have a genetic cause, and as a leading commercial laboratory, we understand the important role we play in the rare disease community. Every day, we provide genetic test results…
- By Catherine Schultz, MS, CGC
- Posted February 26, 2024
From Awareness to Action: Supporting Rare Disease Today and Everyday
February 29th, the rarest day in the calendar, serves as a beacon of hope and solidarity for those affected by the rarest of diseases. Rare Disease Day is dedicated to raising awareness about rare diseases and the millions of individuals around the world affected by them. It is also a time to shine a light on the incredible work being done by…
- By Carrie Horton, MS, CGC
- Posted February 23, 2024
Variant Interpretation in Real Time: Sometimes it Takes a Village
Every individual's genetic makeup is unique, containing the blueprint for their health, including susceptibility to diseases and potential response to treatments. But understanding your genes is like deciphering a complex code. DNA varies slightly from person to person, and interpreting the medical significance of those differences, or variants,…
- By Meagan Farmer
- Posted February 21, 2024
A GC’s Perspective on Lab Expertise: Getting Answers After Years of Uncertainty
Kaitlin Stokes is a genetic counselor at Houston Methodist West in Houston, TX. She sees patients with personal or family histories of cancer that may be due to an underlying hereditary cause. We recently connected with Kaitlin about her role, and she shared, “I love what I do because I feel like I’m helping people. I’m giving them control…