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,…
In the fast-moving world of genetic testing, designing and updating a hereditary cancer portfolio and each test it includes is a balancing act. It’s about making sure we include genes that matter clinically while steering clear of those with uncertain links to cancer. At Ambry, we’ve perfected this balancing act by sticking to a process rooted…
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…
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…
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…
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.…
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…
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.…
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…
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…