- By Liam Riddle, MS, CGC
- Posted February 28, 2025
From Odyssey to Answers: How Progeny Helps Improve Rare Disease Care
At some point in life, everyone will seek medical attention for themselves or a loved one. Often, the cause for concern isn't immediately clear, marking the beginning of what could be a rare disease journey. Each year on the final day of February, Rare Disease Day raises awareness for these individuals and their experiences. As genetic counselors,…
- 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 Jessica Scott, MGC, CGC
- Posted January 15, 2025
From Fear to Empowerment: A Patient's Perspective on the Ambry CARE Program
We talk about the Ambry CARE Program® (CARE) a lot – how it helps providers identify high-risk patients, offers genetic testing and genetic counseling at scale, and gives patients insights to help them better manage their health. All of that is very powerful, but people also often ask what CARE looks like from the patient’s perspective.…
- By Jenna Cooke, DNP, APRN, FNP-C, CGRA
- Posted December 18, 2024
Enhancing Patient Care: A Digital Approach via The Ambry CARE Program® Improves Universal Cancer Risk Stratification in Imaging Centers
Identifying individuals at increased cancer risk is crucial for prevention and early cancer diagnosis. Integrating a risk assessment tool into imaging centers supports proactive cancer risk management by combining risk evaluation with immediate diagnostic capabilities. A retrospective study was conducted across 15 Midstate Radiology Associates…
- By Rebecca Carr, MS, CGC
- Posted December 17, 2024
Navigating Hereditary Cancer Testing: Selecting the Right Multigene Panel
Navigating the complex world of genetic testing can be daunting, especially with the rapidly evolving landscape of hereditary cancer testing. For healthcare providers, choosing the right hereditary cancer test and laboratory is crucial to offer the best care for their patients. The Evolution of Hereditary Cancer Testing Genetic testing was…
- By Amanda Jacquart, MS, LCGC
- Posted December 4, 2024
Understanding Gene-Disease Validity in Hereditary Cancer Testing
My favorite thing about my role as a Genomic Science Liaison (GSL) at Ambry is that I get to apply my training in genetic counseling and experience working in an oncology clinic to conversations with healthcare providers about genetic testing and technology, helping them make the most informed decisions for their patients. In this blog, I have…
- By Lauren Costantin, MS, CGC
- Posted November 21, 2024
Progeny Spotlight: Empowering Families with Health History Insights
Thanksgiving has always been my favorite holiday–it is a time to gather around the table with family from near and far, to eat a delicious meal, and catch up on everyone’s accomplishments over the past year. Thanksgiving is also National Family Health History Day, so as we are enjoying another helping of mashed potatoes this year, why not take…
- 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 Jessica Grzybowski, MS, CGC
- Posted October 31, 2024
Striking the Perfect Balance in Designing Hereditary Cancer Tests: The Ambry Approach
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…