• 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 Adrianne Alexander, RN, BSN, CBC
  • Posted June 20, 2024

From Vision to Reality: Best Practices for Building High-Risk Breast Programs

Breast cancer remains the number one most common cancer among women in the United States, and the number two leading cause of cancer deaths among women.1 Approximately 20% of all breast cancer cases are associated with a family history of breast cancer, and approximately 10% are hereditary (due to pathogenic variant or mutation in a gene).2,3…


  • 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 Carrie Horton, MS, CGC
  • Posted May 30, 2024

Research Recap: Determining Gene-Disease Validity in POT1 Tumor Predisposition

Germline variants in POT1 have been implicated in predisposition to melanoma, sarcoma and glioma. However, these tumor associations have been derived from very small studies, or those with cohorts highly ascertained for specific cancers. In our recent study in Genetics and Medicine regarding POT1 tumor predisposition syndrome, Ambry set out to…


  • 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 Heather Fecteau, MS, CGC
  • Posted May 1, 2024

Putting Patients First: The Ambry CARE Program®'s Commitment to Patient Experience

With 25 years of innovation experience, Ambry has been a leading pioneer in genetic testing. But Ambry prioritizes more than performing testing. Since the launch of the Ambry CARE Program® in 2019, Ambry has also consistently helped to improve the delivery of genetic services. Why CARE? We know significant gaps exist between medical guidelines…


  • 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…