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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...

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? Telehealth services and telemedicine services are terms used interchangeably, but they are slightly different services. Both refer to the delivery of services within the health care system. What is telemedicine services? What is telehealth services? Telemedicine services use technology for a health care provider to deliver clinical health care to a patient remotely. These “virtual services” remove the need for an in-person visit. For example, Genome Medical offers telemedicine genetic health services to individuals, such as specialized genetic counseling with one of its board-certified genetic counselors. This service is also called “telegenetics.” Telehealth services are broad and include virtual patient education, support services or other types of patient visits. They also include remote-based communications between health care providers or virtual events/conferences held for medical education purposes. For example, Genome Medical uses telehealth services to connect our Clinical Care Coordinators with patients, as well as deliver peer-to-peer consultation about appropriate genetic…

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...

Rare Disease Day is a day of raising awareness for rare disease that takes place on the last day of February each year. With Leap Year upon us in 2020,...

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...

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 of the genomic information needed to build and support a living organism. In humans, a copy of the entire genome is made up of more than 3 billion DNA base pairs; these are essentially four different chemicals that makeup DNA. That’s it—four chemicals (adenine, thymine, cytosine and guanine, aka A, T, C, and G) lined up in certain combinations encode the instructions to make a human being. What’s even more fascinating is that only about 1% of the 3 billion base pairs make up the approximately 20,000 genes most responsible for creating humans. These are the genes that produce the symphony of proteins that control everything from what we look like to how we respond to food or medications. The other 99% of the genome is made up of non-coding DNA which contains genetic material that helps genes work correctly or turns them on and off. An often-used analogy is…

If you read that title and thought, “A genetic what?” you are not alone. As a genetic counselor, I’ve been asked that question countless times. Now put aside your preconceived notions of someone in a lab coat with a test tube making a designer baby, or a woman talking to a patient lying on a couch. Genetic counselors are neither of those….and if you are thinking there are no genetic diseases in your family…read on, genetic counselors can help you too! Genetic counselors are healthcare providers who: work with individuals to assess the risk of a genetic disease in their family work with healthy individuals who want to use genetics to learn about possible health risks identify what questions, medical records, and testing may help clarify the risk of disease identify what genetic test may be right for you in the context of your history and your interests (we’ll also tell you if there is no genetic test that will help answer your medical question) explain what genetic test results mean for an individual’s health and the health of their family members make recommendations for follow up care to reduce disease risk or identify appropriate treatment options. Wondering who sees…

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 the same: a communication process between a trained professional—the genetic counselor or medical geneticist—and the patient. This process involves: assessing the patient’s needs educating the patient about his or her genetic background and its potential implications dealing with the patient’s emotional response. During a genetic counseling session, it’s very important not only to convey the medical information accurately, but also to address the patient’s emotional well-being. People seek genetic counseling for many reasons. Initially, in the 1970’s and 1980’s, the focus was on obstetrical concerns, and many genetic counselors worked in high-risk obstetrics practices.  As knowledge about genetic conditions expanded, genetic counselors began to see more patients with pediatric and adult genetic issues. Today, some common reasons to consult with a genetic counselor include a history of multiple pregnancy losses, having a child with a genetic condition, having a family history of cancer or sudden cardiac death, needing a review…