Genetics used to be the brave new world of medicine and biology, but it’s increasingly becoming an integral part of everyday healthcare.
The Intermountain Healthcare HerediGene Lab is the heart of one of the world’s largest genetic research operations with a goal to map half a million participant’s DNA to understand, predict, and prevent disease.
When a volunteer has opted in to be told of important findings in their DNA, a genetic counselor like Megan Rimmasch will get in touch.
“I do think at the end of the day, whether or not you know about this information, it's there. You have your genes. You're born with them. It’s not something we choose. And so, by choosing to be proactive about these things, and making decisions to do things like screening, so that we can catch these conditions early."
Rimmasch said her job as a genetic counselor is to, “Help individuals to figure out their risk for developing a specific genetic condition.”
Genetic counselors also help their family members know if they may be at risk as well for developing the same genetic condition.
Counselors have specialties. For Rimmasch, it’s cardiology.
What often happens – a person has heart a heart issue that may be genetic. That person has a family. A genetic counselor is the person who can help them understand what may help them before they need any treatment.
“That's really one of the most important things I think we do as genetic counselors, because for many of these conditions, it's best, the best way to treat them is to catch the condition early and catch it before it turns into a larger problem,” said Rimmasch.
Other genetic counselors specialize in everything from cancer, and prenatal to neurology and general genetics. Some things to know:
- Genetic testing can be expensive, so make sure you know the cost before getting it done.
- Federal law prevents you from losing insurance or your job because of genetic testing results in medical settings.
- Don’t do it alone. A negative test might ease anxiety. But a positive may offer hope as well.
- Learn what you can about your family medical history, then listen to the professionals.
“I think also just advocating for yourself talking to your doctor talking to a genetic counselor, if you feel like it's something that could be helpful for you. Even if the answer is that you don't need genetic testing, they can still help talk you through what might be the best next step for you,” said Rimmasch.
Intermountain Healthcare is welcoming volunteers to participate in the HerediGene Population Study. The study is free of charge for participants and is the largest study of its kind. Find out more and sign up here.
