- By Elizabeth Chao, MD, FACMG
- Posted October 17, 2024
The Evolution of Hereditary Cancer Testing: Why Pan-Cancer Panels Are the Future of Genetic Risk Assessment
Hereditary cancer testing has changed dramatically over the past decade, reshaping how healthcare professionals diagnose and manage genetic risks. Initially, testing focused on specific genes like BRCA1 and BRCA2, linked to breast and ovarian cancers. These gene tests were quite limited, only looking at a small set of mutations…
- By Amanda Jacquart, MS, LCGC
- Posted July 31, 2024
The Importance of TCLR in Mismatch Repair Variant Classification: A Genetic Counselor’s Perspective
In the field of genetic counseling and testing, the stories of patients and the healthcare professionals who guide them through their journeys are as compelling as they are educational. Recently, I had the privilege of working with Alyssa Valentine, MS, CGC, a senior genetic counselor at Cook County Health in Chicago, Illinois. In her role in a…
- By Meghan Towne, MS, CGC, LCGC
- Posted May 2, 2024
Gene-Disease Validity: Developing and Applying a Rigorous Framework in a Diagnostic Laboratory Setting
Our understanding of genes and diseases is constantly evolving. At Ambry Genetics, we develop and continuously refine our testing services based on the ever-expanding body of scientific evidence. The process of assessing the relationship between a gene and a disease is called gene-disease validity (GDV) scoring and is fundamental to genetic testing.…
- By Carrie Horton, MS, CGC
- Posted April 29, 2024
Addressing Disparities in Genetic Testing: Strategies for Improving Variant Classification Accuracy in Underrepresented Populations
Genetic testing has emerged as a powerful tool in personalized medicine, offering insights into individual health risks, disease predispositions, and treatment options. However, its effectiveness relies on the accuracy of the results. We know that individuals from non-White populations receive less informative genetic testing results compared to…
- 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 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 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,…