- 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 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…
- 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 Meagan Farmer
- Posted February 21, 2024
A GC’s Perspective on Lab Expertise: Getting Answers After Years of Uncertainty
Kaitlin Stokes is a genetic counselor at Houston Methodist West in Houston, TX. She sees patients with personal or family histories of cancer that may be due to an underlying hereditary cause. We recently connected with Kaitlin about her role, and she shared, “I love what I do because I feel like I’m helping people. I’m giving them control…
- By Jessica Scott, MGC, CGC
- Posted January 17, 2024
The Patient Impact of Lab Expertise and Collaboration
“My advice for clinicians and healthcare providers who are ordering genetic testing is [that they] should feel that they are partners with the lab,” explains Chana Ratner, Genetic Counselor at Hackensack University Medical Center. We were grateful for the opportunity to connect with Chana and to discuss her experience as a clinical genetic…
- By Meagan Farmer
- Posted December 8, 2023
A Genetic Counselor’s Experience with Proactive Reanalysis through Patient for Life: An Interview with Kelly Minks, MS, CGC
At the National Society for Genetic Counselors Annual Conference, I had the chance to sit down with Kelly Minks, MS, CGC. Ms. Minks is a genetic counselor in the Department of Neurology at the University of Rochester Medical Center, with a clinical practice focused on pediatric neurology. She routinely orders exome testing for children with developmental…
- By Ashley Thompson
- Posted September 14, 2023
Ovarian Cancer Awareness Month Spotlight: Norma Livingston Ovarian Cancer Foundation
Norma was a healthy, active 65-year-old woman who was rarely sick and had always been proactive about her health. She went to her internist complaining of weight gain, abdominal discomfort, and a chronic cough. When the diagnosis was finally made, Norma had stage 4 ovarian cancer. She endured nine hours of surgery, countless rounds of chemotherapy,…
- By Jodi Tahsler
- Posted March 2, 2023
Meet the Gene Team: Bess Wayburn, PhD, CGC, presents the Gene of the Month, SPTBN1
Meet the Gene Team The Gene Team is an essential part of Ambry Genetics. This passionate team of experts is inspired by advancing the science of gene characterization and being able to help patients. For our first installment, we would like to introduce Bess Wayburn, PhD, CGC, Principal Clinical Scientist at Ambry Genetics. Bess Wayburn is a…
- By Melissa Holman, MS, CGC
- Posted February 28, 2023
American Heart Month Spotlight: Sudden Cardiac Arrest in Athletes
Earlier this year, the nation’s attention was captured by Damar Hamlin’s story after he collapsed on the field from sudden cardiac arrest (SCA) during Monday Night Football. After Hamlin’s collapse, teammates, fans and most of America watched as CPR was performed and he was taken to the hospital in an ambulance. In the days that followed,…