- By Meghan Towne, MS, CGC, LCGC
- Posted February 19, 2025
Three Benefits of Ordering Exome Testing as Trios
Exome sequencing, which assesses the protein coding sections of all ~20,000 genes, is an effective genetic test for a variety of clinical indications, but especially for children with neurodevelopmental disorders. Because the testing range is so broad, it is important to have as much supportive evidence as possible to efficiently identify clinically…
- By Bradley Power, MS, CGC
- Posted February 4, 2025
Why Consider an Exome-First Testing Workflow?
Overview In the evolving world of genetic testing, the evaluation of children with rare disease and neurodevelopmental disorders has typically focused on two tests: chromosomal microarray (CMA) and exome sequencing. While both are highly valuable tests capable of uncovering underlying genetic conditions, there are currently mixed practices around…
- By Melissa Holman, MS, CGC
- Posted November 15, 2024
How the Ambry Patient for Life™ Program Minimizes the Need for Provider-Initiated Exome Reanalysis Requests
Understanding Exome Reanalysis Exome reanalysis is a process that involves assessing all 20,000 of a patient's genes, despite only having a concrete understanding of the functions of around 5,000 to 6,000. However, the gap in this understanding is rapidly closing. Scientific research characterizes approximately one new gene every two days. Therefore,…
- By Bradley Power, MS, CGC
- Posted June 11, 2024
A Journey through the Undiagnosed Disease Program: An Interview with Ellen Macnamara, MS, CGC
As part of working together on a recent EducateNext webinar, I had the privilege of reconnecting with my colleague and mentor, Ellen Macnamara, ScM, CGC. Mrs. Macnamara is a genetic counselor with the National Institutes of Health Undiagnosed Diseases Program. Brad: Hi Ellen. We’re excited to host you for a webinar. Can you tell us more about…
- 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 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 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 Meagan Farmer
- Posted December 8, 2023
A Genetic Counselor’s Experience with Proactive Reanalysis through Patient for Life: An Interview with Kelly Minks, MS, CGC
At the National Society for Genetic Counselors Annual Conference, I had the chance to sit down with Kelly Minks, MS, CGC. Ms. Minks is a genetic counselor in the Department of Neurology at the University of Rochester Medical Center, with a clinical practice focused on pediatric neurology. She routinely orders exome testing for children with developmental…
- By Andrew Giles, MS, CGC
- Posted December 5, 2023
Addressing equity in exome sequencing: Proactive reanalysis through the Ambry Patient for Life program helps to reduce racial, ethnic, and ancestral disparities
We know there are healthcare disparities among racial and ethnic groups; these disparities also impact genetic testing. Research and clinical studies have lacked diverse representation and have been predominantly composed of people with European ancestry. As rates of testing have rapidly increased, this gap has only widened. This means much of…