- 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…
- 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 Tawanna St. Lewis, MS, CGC
- Posted November 20, 2023
Guest Blog: The Importance of Family Health History
My name is Tawanna St. Lewis, and I have been a genetic counselor for going on seven years now. My love for the profession continues to grow. I remain passionate about my role because I enjoy speaking with and helping patients, and I genuinely appreciate it when patients feel comfortable enough to share their health history and family history.…
- By Jodi Tahsler
- Posted April 12, 2023
Ambry Spotlights Rob Pilarski: Seeing Genetic Testing’s Big Picture
Ambry Genetics caught up with Robert Pilarski, MS, LGC, MSW, Director of Medical Affairs, at his home on the shore in Cape Cod. He describes the town as “his happy place,” and in learning more about his role at Ambry, it seems that his career has entered a happy place as well. Rob has been with Ambry for over two years and is often sought…
- By Caroline Elsas
- Posted November 4, 2021
We Can Help Reduce Barriers to Cancer Genetic Testing
The world of hereditary cancer testing is complex, but genetic information is crucial for flagging at-risk patients and their relatives. They might just benefit from earlier and more frequent surveillance and/or preventive surgeries. For those individuals who face important and difficult health decisions, genetic counselors are invaluable members…