- 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 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…
- By Adrianne Alexander, RN, BSN, CBC
- Posted July 17, 2024
Expanding Your High-Risk Breast Program: Best Practices for Growth and Impact
One of the accomplishments I am most proud of is driving the creation of a successful high-risk breast program in a large community-based health system. I am often asked how we did it. For advice on getting started, check out the first blog in this series. If you have already implemented a high-risk breast program, congratulations! It’s time…
- 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 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…