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Welcome to UAB Med Cast, a continuing education podcast for medical professionals. Bringing knowledge to your world. Here's Melanie Cole.

Melanie: Welcome to UAB Med Cast. I'm Melanie Cole. And today, we're discussing the field of genetics. Joining me is Dr. Nathaniel Robin. He's the Medical Director of Genetics at UAB Medicine. Dr. Robin, I'm so glad to have you join us today. What a field you're in. It is really burgeoning. It's so exciting. So many new advances that we're going to talk about today. But before we get into that, what role does inherited trait play in developing disease? What impact does family history have on a person's health?

Dr Nathaniel Robin: Well, thank you very much for the opportunity to join you on the podcast. It's always exciting to talk about genetics. You're right that genetics is a greatly expanding field. And one of the really exciting things about genetics for me has always been how we interact with so many different specialties in all of medicine.

As many of us say in genetics, family history is the first really good genetic test we have. It's cheap, it's easy and the information is basically free. Taking a good family history is essential to the care of any patient and it can really identify many important aspects of a patient's health. I often talk to medical students and residents and even faculty about this. Because when we do a family history, we may not only identify issues that are why we're seeing somebody, but we may identify issues that go beyond that visit right there. So we may find that we're seeing somebody because of a heart disease, for example, but it turns out they have a family history of early-onset cancer and identifying that could have significant impact on their health.

So family history is always a very important part of any exam, any medical evaluation. What we now do in genetics obviously goes far beyond that, but that's still a fundamental tool we use. And like I said, any physician can do a good family history and it often identifies issues that would indicate a referral to a genetic specialist.

Melanie: So then let's talk about that. What are some of the indications for genetics referral and what type of patients do you see?

Dr Nathaniel Robin: Well, it's a great question because, again, it's one of the most exciting and fun parts of genetics. I'm trained as a pediatrician, but about 25% or 30% of my patients are adults. So we think of who should see us in several categories. For the adult side, anyone with what we think of as a "adult condition", something that typically occurs in an older age, but is occurring at a younger age, and especially if there's a familial clustering of that condition. So cancer is the best example.

Cancer obviously occurs most commonly in older individuals, but we're seeing breast cancer, colon cancer, really any type of cancer that's occurring at a very young age and in multiple family members. That's obviously a very important indication to send somebody to us. And it's not just cancer. That's an easy and obvious example. It could be heart disease or really any medical condition that we think of is occurring typically in older individuals, but occurring in younger individuals in the family. As a pediatrician, I see a lot of individuals, a lot of young children with intellectual disability, developmental delay, other neurologic problems, and then other birth defects such as congenital heart defects or growth problems.

And people often think that all we do in genetics is put a label to a patient's diagnosis. Just having that name doesn't really add very much. And I would argue very strongly, it adds quite a bit. It allows us to be much more precise in our treatment, in our prognosis, in our ability to really manage a patient knowing what other factors may or may not be available, knowing what specific complications to look for. And that's really only possible through an accurate diagnosis and genetic testing provides us the most accurate diagnosis.

We also find that lot of people we see have been trying to find out why they have or why their child has the particular condition they do. And they go and they see many specialists and nobody's able to really put it all together. But using modern genetic testing, we're very often able to make a diagnosis, which not only allows us to better take care of that individual, but answers the question of why this occurred. And that could have significant beneficial impact on a family, just knowing why a condition exists in their family or in their loved one.

Melanie: Such an exciting field. And what about the importance? As you're telling us about this for other providers about the importance of that full family history and the genetic evaluation, what about the importance of other family members being evaluated? If you identify a particular person, whether it's a child and then you're looking at their siblings or an adult, as you say, tell us a little bit about how important it is to identify at risk family members, so that they may receive that screening and medical management.

Dr Nathaniel Robin: You're 100% accurate about that. That's something that we emphasize quite a bit. There are many conditions where getting a genetic diagnosis in the patient has little or no significant benefit for that patient, but will have benefits for family members. I can tell you about a patient. I came from clinic just a little while ago and saw a family who have what's called an inherited channelopathy, which is a predisposition to a cardiac arrhythmia that often results in deaths. In their case, it's called long QT syndrome, which many providers are familiar with.

The individual who I saw in clinic was diagnosed because a family member had a near-death experience. We tested that family member, found that genetic change in that individual. And it honestly had no impact on that individual because they're going to get a pacemaker and they have all the care that our cardiologists provide for them, regardless of the genetic test result. But through that genetic test result, we were able to identify several family members who had the same genetic condition. And there is no other way to identify the at-risk family members. There is no other medical screening tool other than genetic testing that could conclusively identify them or, for the individuals who did not have the genetic variant, we were able to conclusively say they did not have the risk for suffering sudden cardiac deaths. So that's one example.

Another example obviously is colon cancer or other cancer screening. Many studies have shown that if you identify somebody with a genetic change that predisposes them to a cancer, early screening could have significant benefit about reducing morbidity, mortality associated with that disease.

So those are just two examples. There's many, many, many more where when we test an individual, when we see an individual, we're always in genetics extremely cognizant of the whole family unit, because the whole family unit becomes our patients.

Melanie: Well, that's certainly true. So as we're talking about the benefits of a genetic evaluation for other providers, and I think this is one of the biggest questions that even providers and certainly patients have, how do they counsel their patients, Dr. Robin? When they get this inevitable question, what do you do with the information? Because there's implications for life insurance, they always have questions about insurance. And then there's implications for, as you said, other family members and then prophylactic treatments in the of BRCA and you know, those kinds of cancers. What would you like other providers to know about counseling their patients when they get that inevitable question?

Dr Nathaniel Robin: Sure. That's a very important thing to bring up because we've done studies about this, one of the things that causes hesitancy in primary care providers or even other specialists about sending genetic tests or even referring to genetics is they don't really know what to do with the information. And I will say, conversely, we see that often people will order genetic tests, and then they have information, they don't know what to do with it. The simple answer is that's why we're here. And that's why me and my colleagues, the geneticists and the genetic counselors I work with at UAB. We partner with other providers to make sure family members, the patients, the family members completely understand the genetic test results, the implications of the test results, who else would benefit by genetic testing, what it means to them. And so we're not taking the patient over, but we're really working with the referring providers.

Insurance is a great question. Fortunately, thanks to the Genetic Non-discrimination Act, health insurance is protected to a significant degree. Life insurance is protected to a lesser degree, but that's an issue we talk about. And one thing people don't always realize is they think, "if I get genetic testing, I can lose my life insurance." But the reality is it's the family history that has the biggest role in setting your rates for life insurance and the family history is there and genetic testing really only modifies that. So the courts have been very protective of genetic information and we don't think that should be as significant a concern.

Melanie: What's really exciting in your field, Dr. Robin? What are you most excited about if you were to look to the next 10 years and a blueprint for further research? Because genetics has such a wide reaching capability and implications for our future health, what are you most excited about?

Dr Nathaniel Robin: Yeah, it's a great question. And I could talk 10 minutes or 10 hours about any one topic. There's so many things that are very exciting. Probably, if I had to choose one that is the most generally applicable to all providers out there is the use of genetic testing in personalized medicine and that's such a buzz word, personalized medicine. And frankly, it's something that we've always done. We always try and treat the patient as a unique individual using their medical history, their family history, whatever. But what we're able to do with genetic testing is really precisely identify genetic factors that play a role in disease and in health. And that's a very important thing, is the more we're able to identify, the better able to manage people and that's really across the spectrum.

One very exciting field, one that we're beginning to do some really interesting work here at UAB is pharmacogenetics, which is the use of genetic testing to choose the right medication at the right dose for the right patient. This has significant benefit in psychiatric medications and cancer medications right now, but really it's going to be more widespread.

So I think in the next 10 years, we're going to see genetic testing becoming as routine as literally a blood pressure or a CBC. And we're going to use that information in really advanced ways, some ways I can't really honestly even predict, but using it. And one of the essential components of this will be computer networking. The ability to analyze tremendous amounts of information from national studies and international studies so that these results are the most meaningful for an individual patient.

So it's the combination of using computer analytics, machine learning technologies with the advancing genetic technologies and taking vast amounts of information and kind of putting them into a relatively simple bite-sized piece of information that will apply to each individual patient.

Melanie: So interesting. Wrap it up for us. What would you like other providers to know about referral to the specialists at UAB Medicine for genetic testing?

Dr Nathaniel Robin: There's myself and my colleagues. We're a large and growing group of professionals who are happy to answer phone calls, emails. People call us all the time with questions and sometimes we simply have to see the patient. Sometimes we can answer something by phone. We're available through the UAB Networks. And there are so many exciting opportunities that we have at UAB.

And one of the nice things about genetics is the national and even international network of professionals is so strong that we often call on colleagues in different States and in different countries for advice. We're a very strong, robust group of professionals who are available to really anyone for advice and consultation.

Melanie: Thank you so much, Dr. Robin. And I hope that you'll join us again and give us an update on your exciting field as things progress.

And a physician can refer a patient to UAB Medicine by calling the MIST line at 1-800-UAB-MIST or by visiting our website at uabmedicine.org/physician. That concludes this episode of UAB Med Cast. Please remember to subscribe, rate and review this podcast and all the other UAB Medicine podcasts. I'm Melanie Cole.