- 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…
- By Catherine Mayo, MS, CGC
- Posted October 31, 2024
Early Detection in Action: Angie’s CARE Story
October is Breast Cancer Awareness Month. Some of the best defensive strategies against breast cancer are early detection and risk reduction, but high-risk individuals can be missed with some routine screening processes. The Ambry CARE Program® (CARE) helps healthcare providers consistently identify high-risk patients by assessing patients’…
- By Elizabeth Chao, MD, FACMG
- Posted October 17, 2024
The Evolution of Hereditary Cancer Testing: Why Pan-Cancer Panels Are the Future of Genetic Risk Assessment
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…
- By Jessica Scott, MGC, CGC
- Posted October 16, 2024
Polyposis Explained: Solving the Mystery with RNA Testing
As a genetic counselor at Cone Cancer Center for the last twelve years, Karen Powell, CGC, enjoys helping patients understand their cancer risks. Hereditary cancer testing may provide important and possibly life-saving information for not only the patient but their family members as well. Many patients present with a family history of cancer,…
- 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 Meagan Farmer
- Posted October 2, 2024
2024 Hereditary Cancer Testing Menu Update
Launching November 12, 2024 At Ambry, we understand the critical role genetic testing plays in tailored cancer treatment and proactive care. With our enhanced menu, you can deliver the clinical insights your patients need, backed by the exceptional support and patient access you expect from Ambry. Evidence-Informed and Comprehensive…
- By Jodi Tahsler
- Posted August 19, 2024
From Lynch Syndrome Diagnosis to Advocacy: A Patient and Genetic Counselor Reconnect
In honor of Patient Advocacy Day, Ambry connected with a genetic counselor and one of her former patients to find out how genetic testing made a difference for his healthcare and inspired him to advocate for other patients. Ofri Leitner, MS, LCGC, is a genetic counselor who currently manages the Oncology Genetics Program at UNC Rex Cancer Center…
- By Amanda Jacquart, MS, LCGC
- Posted July 31, 2024
The Importance of TCLR in Mismatch Repair Variant Classification: A Genetic Counselor’s Perspective
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…