- By Elizabeth Chao, MD, FACMG
- Posted October 10, 2024
Pioneering New Research to Support Rare Disease Patients and Families
Unlocking the mysteries of the genome is our life’s work. Since the launch of our first clinical genomic test for identifying the genetic cause of rare diseases, we’ve sought ways to leverage our technology and expertise to support clinicians and the patients and families they serve. As genomic technologies improve, we gain new tools that…
- 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 Meagan Farmer
- Posted May 22, 2024
The Power of Progress: Philip's NF1 Clinical Trial Experience
We had the opportunity to connect with Renie and Philip Moss ahead of Neurofibromatosis Awareness Month. Philip has neurofibromatosis type 1 (NF1). It is associated with many features but most often causes growths called neurofibromas (usually benign) as well as characteristic skin and eye findings.1 Malignant or cancerous tumors are rare.1 You…
- By Meagan Farmer
- Posted May 16, 2024
Navigating NF1: The Moss Family’s Story of Resilience and Hope
Navigating life with a rare disease like neurofibromatosis type 1 (NF1) can be challenging for families. We had the opportunity to connect with Renie and Philip Moss ahead of NF Awareness Month, and they shared experiences and insights from their NF1 journey. Renie and Philip are a mother and son in Birmingham, Alabama. Renie recounted the initial…
- By Lisa Kindel
- Posted February 12, 2024
Meet Raymonde Saintil: Ambry Clinical Lab Manager
Sunday, February 11, is International Day of Girls and Women in Science and Ambry Genetics celebrates that daily. Named one of the “Best Places for Women to Work” in 2020, the women of Ambry Genetics exemplify the importance of their contribution in every role. One Ambry employee, Raymonde Saintil, embodies the spirit of this day with passion…
- By Jessica Grzybowski, MS, CGC
- Posted October 17, 2023
Understanding Gene-Disease Validity in Breast Cancer: The Power of Evidence
When it comes to understanding the genetic basis of diseases, evidence plays a crucial role. Gene-disease validity measures the strength of evidence associating pathogenic variants or changes in a gene to a genetic disease or syndrome. In the context of breast cancer, which affects approximately 1 in every 8 women, grasping gene-disease validity…
- By Meghan Towne, MS, CGC, LCGC
- Posted September 20, 2023
Genetics in Medicine publication demonstrates a 10% lower rate of VUS with WES/WGS compared to panels
Are uncertain results (variants of uncertain significance, or VUS) more likely in multi-gene panels (MGP) or whole exome- and genome-based (WES/WGS) tests? Ambry recently participated in a study led by the Medical Genomic Initiative (MGI) comparing the VUS rates for MGP and WES/WGS. The study, conducted across 19 clinical laboratories in North…
- By Margo Gallegos, MS, LCGC
- Posted November 8, 2022
Genetic Counselors Make the Industry World Go Round
It’s 3 p.m. on a Friday and Gene Counselier, a genetic counselor for Healthcare Center, is at their desk after a long day at the clinic, placing patient orders. Gene knows from their years of working with patients that choosing the right testing laboratory is vital to set their clinic and patients up for success. Gene opens the Ambry Genetics…
- By Stephany Tandy-Connor, MS
- Posted May 4, 2017
Direct-to-Consumer Genetic Testing: Taking the Trend to the Next Level…Responsibly
Our DNA tells a story — it tells us who we are. With advancements in genetic testing and an increased awareness in personalized healthcare, interest in direct-to-consumer (DTC) testing is on the rise. DTC genetic testing companies have made limited genetic testing for the general population readily accessible to healthy individuals. However,…