I have been a genetic counselor for nearly 20 years and in that time, I have worked with everything from prenatal to adult genetics. No matter which discipline I was working in, family history was always my number one tool. Everybody’s personal and family history can hold clues to the types of diseases for which they may be at risk. Therefore,…
Precision medicine is an emerging healthcare model built on the idea that drugs designed to target precise genetic causes of diseases will be cheaper, safer and most importantly, more effective for patients with a mutation. Although precision medicine applies to all therapeutic areas, the rapid progress in identifying new epilepsy genes represents…
In our more than 20 years of operation, Ambry has come a long way. Looking back, it’s important to remember that we would not be “Ambry Genetics” without our genetic counselors. Ambry is built on the foundation of quality genetic testing that helps people find answers – and genetic counselors have been with us from the beginning, working…
Ambry strives to always present impactful research that moves the science of genetics forward at tradeshows and conferences throughout the year. Below, are summaries of the research we presented at this year's American Society of Human Genetic's Annual Meeting. Black, M.H., et al: Type 2 Diabetes Variants Contribute to Breast Cancer Risk…
Ambry was founded on a single vision, with a single mission, by a single person – Charles Dunlop. He believed the world would be a better place if all human disease was understood. Fueled by this vision and frustrated with the politics of academia during his education, Charlie built a genetics lab with a group of scientists whose only goal was…
An estimated 252,710 women will be diagnosed with breast cancer in 2017.1 Early detection of breast cancer is critical for successful treatment of this disease - women who are diagnosed with early stage/localized breast cancer have a 5-year survival rate of 98.9% 1 We hope that this Breast Cancer Awareness Month will inspire more people to discuss…
Lynch syndrome is one of the most common hereditary cancer syndromes, affecting about 1/279-1/440 people in the U.S. It is caused by a genetic mutation in one of five genes: MLH1, MSH2, MSH6, PMS2, or EPCAM. Individuals with Lynch syndrome have a significantly increased lifetime risk for multiple types of cancer including colorectal…
In our quest to understand all human disease, Ambry employs a team of researchers who investigate topics from every area of genetics research. Throughout her tenure at Ambry, Zoe Powis, MS CGC, Supervisor of Clinical Genomics Research, has contributed much to the broader body of knowledge about the field of genetics. At this year’s National…
We present impactful research to move the science of genetics forward at tradeshow and conferences throughout the year. Check out some of the research, separated by category below, that we brought to this year’s National Society of Genetic Counselor’s annual meeting. Read about the contributions from our lead researcher Zoe Powis and the Ambry…
Just five short years ago, hereditary cancer testing was much simpler for patients and healthcare providers. There were finite criteria, associated with a handful of genetic conditions, and healthcare providers could order single-gene (or single-syndrome) genetic testing for patients who met those criteria. Since 2012, the field of genetics has…