ONCE UPON A GENE - EPISODE 017 - The Value of Genetic Counselors
Podcasts have played a huge part in finding community and they’ve served as a way of educating myself. I loved Eleanor Griffith's mission in her podcast, Patient Stories. After being a guest on her podcast, I emailed her a few months later and asked for tips to get my own podcast off the ground. She was so gracious with all her shared wisdom. In addition to her podcast, Eleanor is a Genetic Counselor and Founder of Grey Genetics. I've asked her to join me for this episode to discuss and share her expertise on the importance of genetic counseling.
EPISODE HIGHLIGHTS
What does a Genetic Counselor do?
What a Genetic Counselor does depends on the setting they work in. In terms of a pediatric setting, Genetic Counselors will often work with a Medical Geneticist as part of a team in a hospital. The Genetic Counselor will meet with the family, get information, explain testing options, go over test results. The Medical Geneticist will come in for a portion of that appointment to do a physical exam as well.
For parents that don't yet have a diagnosis for their child, what would you say to those parents who are hesitant in seeking out your services?
For everything in life that has an advantage, there's a disadvantage which is true of genetic testing. The potential disadvantages can vary a lot depending on the reason for testing and the specifics of the situation. In a prenatal setting, testing for some people is personality dependent. Some people think the more information, the better, knowledge is power and they can make informed decisions. For others, they don't want the information, it wouldn't change anything and would only stress them out. In pediatrics, there's fewer disadvantages because you already have a child who has special needs or developmental delay and a diagnosis can help with receiving the needed services. People may hesitate to avoid a diagnosis being labeled, but it can help in finding community and can provide medical management direction.
How has your job changed since the boom in genetic testing and it becoming more accessible, more affordable and more talked about?
I graduated in 2011, so in that sense I'm a newer Genetic Counselor and some of those changes were happening when I was graduating. I've also jumped around to several settings, and changes affect varying settings differently. Overall, I'm seeing more genetic testing driven by sales and marketing and there's much more direct-to-consumer testing. Tied to that is a lot of people interested in ancestry testing and certain health concerns, which is murky and mostly unreliable. In doctor's offices, sales reps are present to provide genetics education, but from a commercial angle.
What's it like as a Genetic Counselor to deliver a diagnosis to a family?
Aside from my experience as a student, I haven't worked in pediatric genetics and I can't speak specifically. I have experience delivering diagnosis related to hereditary cancer risks and prenatal genetic testing results. It's hard. Not in the way that it's hard for patients, but you're always hoping for good news for them. With pediatrics, you already know there's a problem, so good news can mean we have part of an answer and a direction. Overall, I'm glad I get to be the person that shares this information with patients and to be there for them.
Have you ever given a diagnosis that was uplifting or relieving for them?
With hereditary cancer, yes to a certain extent. When someone has a strong pattern of cancer in the family and they're looking for information to guide their medical care, they feel they can take something from the results. For most people, it takes time to feel uplifted or relieved. Initially, they may feel shocked or in disbelief, they go through stages of processing and then feel grateful and are able to see the positive side.
When, why and how does someone contact you for genetic counseling?
In most states, Genetic Counselors can't order genetic testing on their own without a physician. If someone is interested in testing, they're connected to a physician who is willing to order testing or works with a Genetic Counselor who can order it under their name. For a pediatric situation, it's ideal to see a Medical Geneticist in person and have the physical exam. If you live far away from the nearest Medical Geneticist or there's a long wait to see them, a telehealth appointment can be valuable to review some information. The results that come from genetic testing should become part of the plan for someone's medical care, so a doctor should be looped in. As Genetic Counselors, we don't provide medical advice or medically manage patients. We're here to discuss risks, options, benefits and specialists.
What are your thoughts on the bill in front of Congress right now to make a lot of the research you would access in preparation to give a diagnosis, available to the public?
I don't know much about this bill and it's not something I'm well informed on. I've heard a lot about these issues and I feel they're important issues. There's a lot of frustration outside the community of parents with kids with special needs. You have peer reviewed articles behind a paywall, especially associated with reputable journals and they're expensive. Outside of the cost and model for which the prices are set, there's the question of who is funding this research and it's not a simple answer. If research was done based on grant funding, that's funded by taxpayers. Even if it's a professor conducting research which was paid out of their salary, some public funding goes to universities and that comes back to taxpayer dollars. IT's fair to argue that we're all paying for this research and it's incredibly valuable, but the research is behind paywalls. The potential downside is, even with publicly available information, it's easy to misinterpret information or make assumptions when reading an article because all studies have limitations.
What is your goal for Grey Genetics and what do you have planned for the future?
My goal for Grey Genetics are pretty long term. I've tried to create a platform for Genetic Counselors to offer their services. We don't take insurance because genetic counseling isn't reimbursed well enough and insurance is difficult to navigate. At this point, people have to pay out of pocket. One long term goal is that the payment structure is changed. We do contract with healthcare providers so there's potential for us to work with patients that way too. With Genotypecast, I want to cover the different genetic topics in the news and to reach a different audience of people than Patient Stories and elevate Genetic Counselor professionals.
CONNECT WITH ELEANOR
Email: podcast@greygenetics.com
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