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A Pediatrician on the Importance of Genetics in Medical Care

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Bryce Mendelsohn, MD, PhD, is a pediatric medical geneticist and researcher based at the University of California, San Francisco. He completed his medical training at Washington University in St. Louis as a student in its combined MD/PhD program. He then went on to pursue a dual residency in pediatrics and medical genetics at UCSF, in addition to a postdoctoral fellowship. Mendelsohn’s research focuses mainly on the genetics of energy metabolism and mitochondrial disease. He is passionate about medical technology, and frequently integrates modalities of telehealth into his clinical practice. He also has a deep interest in genetic education, having recently authored a book, called Precision Medicine: A Guide to Genomics in Clinical Practice, to improve “genetic and genomic literacy among non-geneticist physicians.”

1. What are the overlaps between your research and clinical work? How does your research background affect your decisions and thought processes as a physician?

There’s definitely a lot of overlap in a field like genetics, where knowledge has really pushed the field forward in the last few years. A lot of things that were research just a year or two ago is clinical now. My research is focused on understanding the genes that are important for mitochondrial function. Genetic sequencing finds a lot of changes in patients, but we don’t always have a function to connect those changes to diseases; so, my research definitely adds a component to that, because it allows me to speculate if a particular gene is likely or unlikely to cause an energy disorder. You have to be cautious in how you use [research] to interpret patient data, but in the bigger scheme of things, they definitely do overlap. It’s also important because, everyday, there is a new human disease gene that is published. It’s very interesting to look back at research data and compare it to real clinical findings. Research, especially genetic sequencing, is what’s driving the field forward.

2. How did you decide to specialize in pediatrics and then complete an additional residency in medical genetics?

I knew from the very beginning of medical school that I wanted to do medical genetics. I always found genetics to be the purest form of medicine, because it deals with the construction and function of the human body, instead of the degeneration and external insults of the body. It’s more like being able to learn about how cars are designed and built than how to repair them. I always found that to be much more stimulating. And then, pediatrics is a logical and common initial training program to go through before doing medical genetics, because children are where a lot of the excitement is at in genetics.

3. In terms of your clinical practice, what are your areas of expertise?

My areas of expertise include a wide range of pediatric genetic conditions, particularly those that are caused by multiple anomaly syndromes or developmental disabilities. I also specialize in inborn errors of metabolism in biochemical disorders, such as phenylketonuria. I don’t know if anyone truly specializes in mitochondrial disease, because it’s so complex and there’s so little that we know. But, I consider myself to be an early stage person with a lot of research background in mitochondrial disorders. Although, I’m early in my career, so I can’t claim to be a specialist at the level of someone who’s very senior and has decades of experience.

4. Over the past several years, how did you manage to balance research and medicine in your everyday life?

It’s difficult, and people do it in different ways. I’ve just gone back and forth between the two. I’ve done a couple years of clinical work and then a couple years of research, and now I’m doing mostly clinical work again, and more higher level data analysis. I’m not at the bench very much right now. It’s a balance that hasn’t truly been worked out structurally, nationally. Some people do both to a big extent, and then, many people do one or the other more predominantly. I’ve done it by switching back and forth, but research and medicine are both so sophisticated, so [balancing the two] is a challenge that most people face.

5. Are you an advocate of regular genomic sequencing?

I would say I am cautiously optimistic that in the next few years there will be better evidence that regular healthy people will benefit from screening. I think there are circumstances now that exist, especially for people who are thinking of having children, […] where screening would be recommended. [Regular sequencing] will probably be helpful, but I think there are some very important questions in the air. What I do feel very strongly about, however, is that people who are symptomatic really deserve the best genetic technology that we have to offer — people who are sick, children who are delayed, or have seizures, or malformations. But, that’s a whole separate world.

6. Can you speak about the motivations behind your book, Precision in Medicine, and your involvements in medical teaching?

The main motivation is that there is a very obvious gap between the potential and the pace of advancement in genetics and genomics, and the knowledge base comfort of the lay public and even physicians. A lot of the conversation has been driven by commercial interests that want to send you tests or supplements. I feel very strongly that professional geneticists need to step in front and take the lead in providing access to material and resources, so that physicians and the public know how genetics can and can’t help their lives. You know, people with chest pain go see a cardiologist, if they have dizziness or headaches, they see a neurologist, but if they have genetic questions, they go online. So, I think geneticists need to be more out and visible, and that’s sort of my goal.

7. I know you have an interest in telehealth and telemedicine; how do you incorporate this type of technology into your practice?

I do a lot of telehealth, although not as much as I would like, partially because I deal with disadvantaged patient populations that don’t necessarily have access to the technology and resources to use it. But, like I said before, there are not enough geneticists, and geneticists are really concentrated in big cities, so there are many, many Americans who don’t have access to someone with genetic expertise. So, I think it is important for geneticists to be not only visible, but also available. And, I think telehealth is an important component of that, where someone who doesn’t live near a major academic medical center, but who has cancer or a child with a deformity or disability, is able to get qualified advice and not just be stuck with whoever’s nearby. I also have patients who live five to six hours from my office, and if I want to report test results, there’s no reason for them to drive all that way. So, I do that over video. Or, for patients who are disabled and can’t travel, I do that type of thing all the time. […] I think telehealth should definitely increase in specialties where there are just not enough physicians. It’s not perfect, but it’s definitely a step in the right direction.

8. What is the most rewarding part of your job?

I see a lot of people who have had major health problems for many years — children, who are now teenagers, or babies who have seen a thousand specialists and have had every kind of test and MRI done. I get to use new technology to find answers to [questions] that, even five years ago, were just going to remain permanent mysteries. So, it’s really rewarding when I can sit down with parents and tell them ‘this is what your son and daughter has, and here are some other things we can look for to help take better care of them.’ It’s putting a name to what otherwise was just a mystery that had 10 different doctors scratching their heads — that’s the most rewarding part.

9. Outside of medicine and research, how do you spend your free time?

I have two kids, and that has pretty much consumed my remaining free time. I used to be a musician, but at this point, I am focusing on my two kids. […] It’s very difficult to balance [my work and family life]. I think the trick is working when the kids are sleeping, so that you can be there when they’re awake — I think that’s a common solution. It requires flexibility, it requires prioritization. You can’t be everything to everybody, [because] there are only so many hours in the day.

10. How would you describe your work style?

I try to use technology as much as I can — I live on my computer and laptop. I try to keep everything organized digitally; I don’t use paper for anything if I can help it. I have my voicemails digitized, and I send emails, and I have different folders with levels of encryption for patient data. I use a lot of cloud services to make sure I can constantly share my work and files with other people. I try to use electronic health records and their various functions to save medical history, family history, and test results, so that patient summaries are all in one place. And then, I just keep constant lists to keep track of my work. I try to be organized digitally and use the technology I have efficiently.

11. What advice would you give to aspiring physician-researchers?

I think I would say that there is tremendous potential for contribution in purely clinical, purely research, and combined careers. And that doing everything is admirable, but not for everyone, and not always the way that a person can best contribute. Someone in a career like that should always be introspective about what they’re most passionate about, what interests them the most, and what motivates them the most. They should always be open minded about their career both in the short term and the long term. I know lots of amazing physician-scientists who do both research and medicine; but I also know people who realize that when they see patients, their heart’s not in it, but when they’re in the lab, they truly feel alive; and I know people who are the other way as well. But, that understanding [comes] over time; it doesn’t come in the first year of college. It’s really about being constantly aware of where you’re getting your excitement from.

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