- By Jessica Grzybowski, MS, CGC
- Posted July 3, 2024
TCLR: Revisiting an Innovative Method for Mismatch Repair Variant Classification
In the rapidly evolving landscape of hereditary cancer genetics, precision in classifying genetic variants is crucial. Ambry Genetics recognizes this need and consistently innovates by applying rigorous methods and multidisciplinary expertise to better interpret variants, including for specific gene and variant types that can be more challenging.…
- By Jennifer Herrera-Mullar, MGC, CGC, DMA
- Posted July 2, 2024
The Evolving Landscape of Gene-Disease Validity Curation and Its Impact on Clinical Utility
In the ever-evolving field of genetics, understanding the relationship between genes and diseases is crucial for improving patient care. Gene-Disease Validity (GDV) scoring plays a pivotal role in this process, helping genetic counselors and healthcare professionals assess genetic risks and enhance medical management. As GDV scoring techniques…
- 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 Chelsea Menke, MS, LCGC
- Posted April 30, 2024
Advancing Equity: TriHealth’s Experience Leveraging CARE to Standardize Cancer Risk Assessment
National Minority Health Month (NMHM) dates back to April 1915 when Booker T. Washington established the National Health Improvement Week (later known as National Negro Health Week).1,2 The goal then, as it remains today, was to improve the health and wellbeing of underserved or minority populations. This can only be done by building awareness…
- 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 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 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 Meghan Towne, MS, CGC, LCGC
- Posted January 30, 2024
Ambry Collaborations with GeneMatcher Help Further Disease Gene Discovery and Improve Diagnostic Rates
The Problem of Unsolved Cases While our knowledge of human genetics has grown significantly, many gaps remain in our understanding of genes and their contribution to human disease.1-3 We have a lot to learn: • Only about 16% of all the genes in the human body have an established disease association. • The genetic cause is known for…
- By Marcy Richardson, PhD
- Posted December 19, 2023
The Path to Clinical Relevance: What a Study on RAD51C Reveals about Resolving VUS
Everyone has genetic variation….and lots of it. It’s part of what makes us each unique. Genetic variation is defined by differences in our own genome and a reference genome. (The fact that there is only one reference genome selected to compare to all of our collective, rich, human diversity is a topic for another post.) Another source of genetic…