Transcription:
DNA Download: What You Should Know About Genetic Testing

Bill Klaproth: Genetic testing has been around for decades, but take home kits provided by genealogy companies have only taken off in the last couple of years. Researchers at MIT estimate that more than 26 million consumers have added their DNA, the leading commercial databases such as Ancestry and 23 and Me. So to help us understand genetics and the difference between testing in a professional healthcare setting versus testing at home is Le Bonheur Children's Hospital Genetic Counselor Shannon Holtrop. This is the Peds Pod by Le Bonheur Children's Hospital. I'm Bill Klaproth. Thanks for being with us today Shannon. We appreciate it. So before we get into the kinds of tests people are taking at home and why this might not be the best new trend out there, can you first give us a quick definition of genetics?

Shannon Holtrop: So genetics is one branch of biology. It studies genes, changes or variations with our genes, as well as heredity or kind of how things are passed down in organisms. Today we're going to focus I think more kind of on the human genetics and not so much other types of genetics. Because again it can be with any organism and medical genetics specifically is actually a branch of medicine and that involves managing and treating different genetic conditions for patients.

Host: So on this podcast and we're going to focus on human genetics and medical genetics. So then the next question is what is genetic counseling?

Shannon Holtrop: Yeah, so it's actually something that's kind of hard to describe because it's complex, but genetic counseling involves gathering history information, so personal medical history as well as family history. It also involves teaching and supporting patients and their families, so we're trained on how to interpret medical and family history to help us determine what different genetic condition we might think the patient might have or might be in the family. We do a lot of educating for the family, different genetic testing options, educating once we have a diagnosis and going through what that means for the family, but we're also there just to support the family to help them understand what's going on, to adapt to a new diagnosis and cope with all of that. Kind of the reason to do all of that is really to help them make informed decisions for them and their families.

Host: So Shannon, when you say looking for genetic conditions, what are some of the common conditions you may discover or you are looking for when it comes to genetic conditions?

Shannon Holtrop: So there are lots of different types of genetic conditions and they can involve every single system of the body. Some of the more common ones that you may have heard of are Down syndrome, cystic fibrosis, other chromosome abnormalities.

Host: Okay. So there's obviously some big conditions out there that you can uncover by doing genetic testing. So you are a genetic counselor. What is the difference between a genetic counselor and a geneticist?

Shannon Holtrop: So a medical geneticist is a physician, so they have a medical degree, they've gone to medical school, they'll often do a pediatric residency after medical school, but it could be other things like neurology or OB GYN. And then after their residency, they do a fellowship in medical genetics. So medical geneticists can do genetic counseling, but they also have that medical background and they can do physical exams on the patients. Whereas genetic counselors, we have a Master's degree specific to genetic counseling, but we do not have, we have not attended medical school.

Host: So why does someone choose to get genetic counseling or are they referred? What is the process?

Shannon Holtrop: So when coming to a genetics clinic, first we have a referral from another physician and this other physician is suspecting a genetic condition for this patient. So since geneticists and genetic counselors were experts in family history, we perform a family history during the appointment, geneticists are also experts in physical exam as far as finding little features that could be different that others might not pick up and that can give them clues as to the different specific genetic conditions. And then we can also hopefully come to either a clinical diagnosis or order genetic testing and come to a diagnosis from that direction.

Host: So a pediatrician may suspect a genetic condition, they will refer that person to you as a genetic counselor. So then what does a genetic test give you?

Shannon Holtrop: So there are lots of different genetic tests because there's different ways that you can have a genetic condition, but within medical genetics, those doctors order the tests and they order the test to help determine if whatever symptoms that the patient has are actually due to a genetic condition. And then if we make a diagnosis, we can make medical management recommendations based off of that diagnosis. The genetic testing also helps us determine if there are any other family members who could be at risk for the same condition.

Host: Well, I could see where that information would be very valuable in helping you pinpoint a condition instead of guessing or thinking, well, this person has these symptoms maybe it's this. With genetic testing, you really can pinpoint it and go, yes, it is this, is that Right?

Shannon Holtrop: Exactly.

Host: So then how does genetic testing affect a child's treatment?

Shannon Holtrop: This is highly variable. Well, depending on the condition, so with some conditions, having a diagnosis may just guide your surveillance plan, whether that's getting an echocardiogram or a different imaging to just see how the disease is progressing. There may actually be approved medications for it. Some conditions. There's different clinical trials and some we don't have an actual treatment for. So the management is just based off of the patient's symptoms. So again, that could be if somebody has developmental delay, for example, maybe that patient is now going to get physical therapy and speech therapy.

Host: Wow, this is really, really interesting. So what about a parent who is on Doctor Google and they suspect something may be wrong and they go to one of the commercial databases such as Ancestry and 23 and Me. What's the difference between genetic testing ordered by a healthcare provider and direct consumer testing?

Shannon Holtrop: So tests that are ordered by a healthcare provider. Again, one, they're ordered to specifically find a diagnosis for a patient who has, who's experiencing symptoms. Another difference is the labs that we can order as genetics experts are sent to clinical labs that have certain certifications that prove that their tests are a good quality. Whereas direct to consumer tests, you may just be taking for fun. There's not necessarily a reason or a diagnosis that you're going after to order them. It's more out of curiosity or general knowledge. And there isn't really certification or any governing order over the quality of those tests.

Host: So Shannon, let me ask you this then. What do you think of those take-home tests?

Shannon Holtrop: Well, I don't want to miss represent anyone in the genetics profession, so I will just stick to the American College of Medical Genetics and kind of their thoughts on these take home tests. And the American College of Medical Genetics. I will abbreviate to ACMG from now on. So overall, ACMG believes that any genetic test that is revealing some sort of health related information should involve a knowledgeable medical professional. And the reason for that is first we can help them help the patient understand if they even want to do this test so we can explain the purpose for the test benefits and limitations. And then they can decide if they want to go forward with the testing. And then obviously we can help them interpret the results and explain those results to them. Now, as I already mentioned, ACMG believes that there should be a little bit better quality control for these direct consumer testing.

Just that any genetic test, revealing health related information should meet certain quality standards. And then I just want the public to kind of remember that if you are doing genetic testing, you're not doing that in isolation. Genetic testing has implications on other family members because we share our genetic information with our family members. And then just kind of one other point I want to bring up is there are some privacy concerns with some of the direct to consumer companies just not really knowing what they're doing with individual's data and how long they're keeping samples. So it's just something to, if you decide to do one of these tests, try to be well informed on their policies.

Host: There's certainly a lot to consider and think about when choosing one of those take home tests. So Shannon, as we wrap up, what should a parent do if they're worried about finding a genetic related condition through a genetic test?

Shannon Holtrop: So I think the best kind of first place to go is to ask their primary care physician express your concern, whether that's a family history or personal history. And then they can determine if any referrals are necessary or they can reach out to us at the genetics team and see what the best course of action could be.

Host: So if you are worried, best thing to do is ask. Well, this has really been interesting, Shannon, thank you so much for your time today.

Shannon Holtrop: Yes, thank you for having me

Host: That's Shannon Holtrop, Le Bonheur Children's Hospital Genetic Counselor, and to learn more, visit LeBonheur.org/podcast. And be sure to subscribe to the Peds Pod in Apple podcasts, Google Play, or wherever you listen to your podcasts. You can also check out LeBoneur.org/podcast to view our full podcast library. And if you found this podcast helpful, please share it on your social channels. This is The Peds Pod by Le Bonheur Children's Hospital. Thanks for listening.