Genetic Counseling

Rare Disease Awareness Day is a time to recognize the resilience of the 300 million people worldwide living with a rare disease—and to acknowledge both the progress we’ve made and the challenges that remain in ensuring timely diagnoses and access to life-changing treatments. As a genetic counselor who started my…

Every year on the last day of February, the world comes together to observe Rare Disease Day. It is a day dedicated to raising awareness and generating support for patients, families and caregivers who are on a rare medical journey. It is important to remember that behind every rare disease…

A Q&A with Kiley Johnson, Chief Clinical Officer According to the NSGC, the genetic counseling profession has grown by more than 100 percent in the last ten years and is expected to grow another 100 percent over the next ten years. At Genome Medical we are so fortunate to have…

Telemedicine and telehealth services allow access to clinical health care remotely via secure technology — think face-to-face video, email, texting, shared imaging, apps and more. Discover how this flexible approach helps patients, families and health systems when paired with clinical experts in genomic medicine. What Are Telehealth and Telemedicine Services?…

In the years-long integration of telehealth into the health care system, 2020 will definitely be recognized as a tipping point. Starting in the second quarter, millions of people participated for the first time in virtual visits with their health care providers. While the impetus was the COVID-19 pandemic, indications are…

What is Marfan Syndrome? Marfan syndrome is a condition of the connective tissue and affects about 1 in every 5,000 individuals. Connective tissue helps provide strength and flexibility to different parts of the body, including our bones and blood vessels. People with Marfan syndrome can have multiple signs and symptoms,…

Scientists throw the term “genome” around all the time but to the average person (and to most doctors and nurses), the definition of a genome is not quite clear. So, what is a genome? It’s an organism’s complete set of DNA, including all of its genes. Each genome contains all…

Having been a genetic counselor for thirty years, you’d think it would be easy for me to blog on this topic. But the fact is, the field of genetic counseling has been continually evolving since it began back in 1969. Through the years, though, the essence of genetic counseling remains…