However, genomics is still a relatively new and complicated field – one in which most doctors don’t receive much training. That’s where genetic counselors step in. They possess the hard and soft skills needed to analyze a patient’s genetic risk and to help the patient understand and react to it.
To learn more about the role genetic counselor play in health care, we chatted with Tara Schmidlen, MS, CGC. Tara has worked with the Coriell Personalized Medicine Collaborative as a genetic counselor nearly since it began 10 years ago and still acts as a consultant for the project.
How do you describe the role of genetic counselors?
Genetic counselors are health care professionals with advanced degrees in genetics and counseling that provide personalized help to patients as they make decisions about their health. Genetic counselors interpret genetic test results, and guide and support patients seeking more information about how inherited diseases might affect them or their family members. We also help people determine which genetic tests may or may not be right for them, and what those tests may or may not tell them about their health.
Most genetic counselors work in a clinic or hospital setting, and many work alongside doctors like obstetricians, oncologists and cardiologists. Additionally, some genetic counselors focus on research which can include working to improve our understanding of the genetic causes of disease, improving care for people with genetic disease to improving the way genetic counseling is delivered to patients.
How has genetic counseling changed over the years?
I’ve been a genetic counselor for nearly 12 years now and the technology around genetic testing has changed a lot in that time.
When I was in school and in training, we were much more limited with regard to testing technology. For example, it was more common to test for a single gene of interest at a time, but genetic testing now is much more comprehensive and affordable, we now typically utilize panels of genes in our approach to testing for many common patient concerns like cancer risk or cardiovascular disease risk.
There’s good and bad to that. Testing huge swaths of a patient’s genome gives us a lot of data, but it also can bring a lot of noise into the equation as there’s still so much about the genome that we don’t fully understand.
You also are involved in research, what does that look like?
I’ve been involved in the Coriell Personalized Medicine Project since just about it began and I still am. In the CPMC, I’m available to members of the cohort who want more information or context to the results they receive.
For instance, if a patient receives a report that says they’re at greater risk for heart disease, I can help them put that risk into context and help them determine what steps they can take to lower their risk of disease.
The CPMC will send risk reports for dozens of different complex diseases or drug interactions, so I worked with a team of genetic counselors and researchers at Ohio State University to develop a better approach to providing genetic counseling in situations where participants are receiving multiple results and pieces of risk information. In the OSU-CPMC study, we asked the cohort how they would prefer to contact a genetic counselor, by phone or by email, and what health risks concerned them the most to help us tailor their counseling session to their informational needs. We also developed visual aids to explain complex disease genetic risk and a risk summary report to allow participants to quickly view and reference their most important and actionable results from the study.
My full-time work today is with Geisinger, a health system based in rural Pennsylvania, where I’m still involved in research.
A really neat initiative that we’re working on at Geisinger involves “chat bots,” software powered by artificial intelligence that can answer basic questions and have simple conversation about genetic risk.
Oftentimes, when a patient discovers they are at greater risk for a complex disease or have a particular genetic variant, they are encouraged to tell their members of their family who may also face the same risk. In the past we’ve helped them draft written letters which were mailed.
With the chat bot, though, patients are able to simply text or email a link to their family members and the chat bot will walk them through the rest. Ultimately, the chat bots will be able to schedule them to come in for additional testing if it’s necessary.
This is beneficial for a couple of reasons. It frees genetic counselors up to use their time with patients who need the expertise and emotional support that we can provide, AND it takes a lot of the emotional and intellectual burden off of the patients themselves. These family members no longer have to pepper the patient with questions the patient may not be prepared to answer. They can do that to a piece of software designed specifically for that purpose.
What do you think the future looks like for genetic counselors?
As genetic counseling moves into more and more fields of medicine, the outlook for genetic counselors is great. Our field is experiencing a lot of growth and is frequently cited among lists of best careers in health care.
When I was in school, there were a few key areas that were utilizing genetic counselors – prenatal, pediatric and cancer especially – but there’s a real push to include genetics and genetic counselors in just about every area of medicine now.
Ultimately, we want all health care providers to be aware of genetics and to feel more comfortable taking genetics into account for a patient’s care or to use their genetic makeup to better predict which medications will be successful for their patients. At the end of the day, genetic counselors are the experts who can help both providers and patients to better understand and utilize genetic information.
New opportunities are opening every year for genetic counselors in both clinical and non-clinical roles like business, marketing, education, technology and public policy as well.
What else should people know about genetic counseling?
With the growing popularity of consumer DNA testing kits, people really should know how to reach a genetic counselor. The kits may seem like a good idea as a gift – and they may be – but it’s important to have someone available to help you understand the results.
It can be scary to find out you have a higher risk for something like Alzheimer’s or heart disease. A genetic counselor can help you understand just what that risk means and can work with you to help you handle it.
Anyone looking for a genetic counselor can head to NSGC.org to find someone who can help.
