- By Liese Vito, MD
- Posted February 7, 2024
CARE Patient Examples at Lake Health
Many patients are anxious about their family history—more than providers realize. In some cases, they may feel like a ticking time bomb with no options. In Part One of this blog series, I talked about The Ambry CARE ProgramTM and how Lake Health has been able to use it to identify more high-risk patients, increase family history and cancer risk…
- By Meghan Towne, MS, CGC, LCGC
- Posted January 30, 2024
Ambry Collaborations with GeneMatcher Help Further Disease Gene Discovery and Improve Diagnostic Rates
The Problem of Unsolved Cases While our knowledge of human genetics has grown significantly, many gaps remain in our understanding of genes and their contribution to human disease.1-3 We have a lot to learn: • Only about 16% of all the genes in the human body have an established disease association. • The genetic cause is known for…
- By Liese Vito, MD
- Posted January 24, 2024
Hereditary Cancer Testing with CARE
According to studies, 93% of high-risk women who qualify for breast MRI have not had one.1 97% of women at risk for hereditary breast/ovarian cancer have not had genetic testing.2 These healthcare gaps mean high-risk patients are being missed when it comes to proactive and preventative care. As a practicing OB-GYN for twenty years, I have seen…
- 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 Marcy Richardson, PhD
- Posted December 19, 2023
The Path to Clinical Relevance: What a Study on RAD51C Reveals about Resolving VUS
Everyone has genetic variation….and lots of it. It’s part of what makes us each unique. Genetic variation is defined by differences in our own genome and a reference genome. (The fact that there is only one reference genome selected to compare to all of our collective, rich, human diversity is a topic for another post.) Another source of 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 Nicole Teed
- Posted November 14, 2023
Peace of Mind: Michelle Majewski Trusts the Patient for Life Program to Share Answers for Her Son Owen
Like most working moms, Michelle Majewski is busy. She spends her days juggling a career as a sales account executive, managing a household, and spending quality time with her husband, their son Owen, and their two dogs. Owen, now 4 years old, is a charmer. He also has extra medical needs, without a clear diagnosis or explanation. The search for…
- By Kristina O'Quinn
- Posted October 25, 2023
Off My Chest: How Negative Genetic Testing and a Supportive Community Helped Me Navigate Breast Cancer
In the fall of 2021, my eighteen-year-old child was making an appointment for an annual check-up, then handed me the phone and said, “Mom, don’t you need a check-up? Didn’t you miss your appointment last year because of COVID?” I had, in fact, missed my annual check-up and mammogram. A few days later, after the check-up and mammogram, I…
- By Jessica Grzybowski, MS, CGC
- Posted October 17, 2023
Understanding Gene-Disease Validity in Breast Cancer: The Power of Evidence
When it comes to understanding the genetic basis of diseases, evidence plays a crucial role. Gene-disease validity measures the strength of evidence associating pathogenic variants or changes in a gene to a genetic disease or syndrome. In the context of breast cancer, which affects approximately 1 in every 8 women, grasping gene-disease validity…