Unlocking Our Genetics with an Academic Medical Geneticist

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SS 185: Unlocking Our Genetics with an Academic Medical Geneticist

Session 185

Dr. Anna Hurst is an academic medical geneticist. We talked about what her day looks like and broke some myths. So what does a geneticist do? Listen and learn more. If this is something you’re interested in, check out the American College of Medical Genetics.

For more podcast resources to help you with your medical school journey and beyond, check out Meded Media.

Listen to this podcast episode with the player above, or keep reading for the highlights and takeaway points.

[01:09] Interest in Medical Genetics

Anna initially thought about being a veterinarian. But as she learned more about human embryology, she became fascinated with the idea of how a person is developed from a single cell. She eventually took a genetics in human affairs class which sparked her interest. It talked about different genetic conditions, their impact on people, and what it meant to have a genetic condition for someone’s health care, but also for some of their psychosocial needs.

She got very interested in the field of genetic counseling, and did a master’s degree in genetic counseling and loved working with families. From there, she got interested in the idea of making a diagnosis. And so, she decided to go to medical school to work more with medical management, which happens after you have a genetic diagnosis.

Anna says she doesn’t like procedures or surgeries and she just loves being able to talk with her patients’ experiences and their journeys. Then she’d be able to use their backgrounds and values to help them make a diagnosis. And then go from there with how that impacts their overall global health.

[03:57] The Biggest Myth or Misconception About Medical Genetics

Anna says that even her own family thinks she just sits in a laboratory and pipette things which isn’t her day-to-day career.

Another misconception about genetics is that it’s inaccessible. They sometimes hear that genetic testing is so expensive, or patients can’t access it. And sometimes, it does require working with insurance companies and trying to find different labs that offer certain tests. But Anna explains they’re actually able to order genetic testing for a lot of people that can give them clear answers for their health.

'We are able to order genetic testing for a lot of people that can give them clear answers for their health.'Click To Tweet

[05:19] The Sherlock Holmes Part of the Job

At the University of Alabama at Birmingham, they have an undiagnosed disease program sponsored by their hospital, but then also sees patients as part of a clinic model. There are other undiagnosed disease programs, especially one through the NIH, that’s pretty well known. But their program is focused locally. The idea is to help their referral base of physicians in the area with complex patients.

[07:12] What the Practice Looks Like

The bulk of Anna’s practice is with pediatric patients. She sees kids who have anything different about how they learn, grow, or develop. It could be children born with a birth difference, maybe how their heart formed, or brain malformation.

As a medical geneticist, she sees them to try to determine the genetic cause of their conditions. And whether it’s something that might have other health implications for the future. They need to be proactive and think about giving them more anticipatory guidance and management going forward to keep them healthy.

She also sees children with developmental delay, which is one of the most common reasons people come to them. Kids who have differences with their bodies, maybe small head size or large head size or tall stature or short stature.

'Any type of variability that might be indicative of a genetic condition could warrant evaluation.'Click To Tweet

Either they get referrals from pediatricians who recognize that something about a child’s development might be outside the normal spectrum. Or families self-refer because there might be a condition that runs in the family and they want to discuss if someone else is at risk for having that condition.

They also see patients for follow-up. Maybe they already have a genetic diagnosis, but they want to make sure they’re on top of management guidelines and doing everything they need to to stay healthy.

[09:02] Typical Day

One of the things that Anna likes about her job is the variety she gets from day to day. She would have a clinic about two to three half days a week, where she’s seeing about four or five patients in a half day. And other days of the week, she participates in research.

Her research is geared towards helping people access genetic testing, specifically whole genome sequencing. 

Even though it’s research, it feels like another clinic day because she’s seeing patients with undiagnosed diseases. She tries to get them access to testing to help get them a diagnosis.

Anna works with their residency program and has a group of students who are new medical doctors but training in medical genetics from a variety of different paths. They work together to see hospital consults. They could get called any day or night, from a family where maybe they have a genetic condition and are having an acute illness that needs to be managed. Or if there’s a child who’s born in the NICU who has a birth difference, they could go over and evaluate them.

And on other days, she’s working on lab manuscripts, or writing up rare disease papers, or working with a medical journal. So they get to read and edit manuscripts everyday, which she finds enjoyable.

[11:07] Is Full Genome Sequencing at Birth Imminent?

For people who have a medical phenotype, Anna says we’re getting very close. In fact, they’re currently working on a study for whole genome sequencing for babies in the NICU. And as part of that, they can perform rapid genome sequencing. Within a week, they’re able to look at the whole genome.

Anna adds that in between seeing patients, they had a rapid genome where the data was available. Looking at her patient’s data, she was able to see a baby in NICU and referred to a study for genome sequencing. Then she could look at the data from the computer and start to look through genetic variants that could apply to her patient or not. Seeing that child in the hospital and seeing their genetic data simultaneously was rewarding.

They work with a great team of bioinformatics specialists and computer scientists. They take those little spikes of sequencing and turn it into something that even a clinician could understand. So they’re able to generate a list of variants and sort them out.

[14:12] Taking Calls and Life Outside of the Hospital

Anna says they rarely have to take calls. They serve as the on-call service for patients with inborn errors of metabolism. Some of these conditions are present in the newborn and require a special diet. They could require special monitoring, especially when somebody experiences things like fever or vomiting. When those patients get ill, they tell their parents to call them right away so they can figure out if they need to come to the hospital for closer follow-up.

Usually, the nights and weekend calls they get are from those families or even from outside emergency rooms. If one of our patients comes to an emergency room and the physician there isn’t familiar with their condition, they might call for an opinion on how to best proceed.

Sometimes, for general genetics, they might have an urgent call. For instance, a baby might have a life-limiting condition, maybe a skeletal dysplasia, or something like trisomy 18, or trisomy 13. And the family would like them to see the baby right away after birth. And so they might come in nights and weekends to see patients with those types of conditions.

In terms of life outside of the hospital, Anna says it’s one of the good things about the field because they definitely have a good work life balance.

“You're able to design the type of work and focus that fits with your life.”Click To Tweet

[16:00] The Training Path

There are different paths to be a medical geneticist. Technically, it is a standalone residency, but you have to do something else first. So it’s like a second residency.

For the most direct path, people can do one year of primary care training (i.e. internal medicine, pediatrics, family medicine). And then do two years of genetics, which is considered a categorical genetics focus time.

Most people are usually doing a full residency first in something like internal medicine and family medicine or pediatrics. And then they do two years of categorical genetics. 

They also now have these combined programs right out of medical school. People can do four years of combined training in internal medicine and genetics, or pediatrics and genetics. And then there’s also a different training path, where somebody who has already completed an OB/GYN residency can do a combined program in the terminal fetal medicine and genetics. That’s an extra four years after the primary OB training.

With all those different pathways, it can be a little overwhelming. But if this is something you’re interested in, you could see what path makes the most sense for you. Talk to somebody who works at their program who can give you the best advice on what path is best for your interest.

[19:17] How to Be a Competitive Residency Applicant

As an Associate Program Director, Anna says that it would be great if somebody has spent time with geneticists, whether that’s in a clinic on rotations, or just had an experience where they know what they’re getting into. He adds that people who thrive in this field are constantly curious and always wanting to learn.

'We get humbled all the time in genetics, there's so much that science just doesn't know yet.'Click To Tweet

Somebody has to be comfortable saying to a patient that they don’t know but they want to find out. And somebody with that type of curiosity is really somebody who’s geared to be a good geneticist. Another thing about medical genetics is that they think about every organ system. They get to think about people of all ages and their entire families. And so, somebody with that kind of zest for learning is really going to thrive in a program.

[20:29] What Residency Training Looks Like

Anna says that the residency training is a mixture of both outpatient and inpatient. There are general months where people are in the clinic as well as consultant staffing and inpatient calls come in. They also have some laboratory time where you can spend time in a clinical, molecular, biochemical or cytogenetics lab, and see what happens to a patient sample.

There’s that mysterious black box of you sending a test, and then getting a result back. Knowing what happens in between is really important for the trainee to understand, even if they’re not the ones performing the test.

Anna adds the biggest thing is knowing the limitations. Know how a test works, then know what it won’t pick up on. People think they just need to send the genetics test and not realize there are so many different ways genetic testing can be performed.

“If you don't choose the right method, you might miss something that could be really important for making a diagnosis.”Click To Tweet

Anna says the residency application red flags may vary for different applications. One negative would be a lack of exposure. Or somebody who maybe doesn’t seem to understand what the role of a clinical geneticist is.

Sometimes, she has seen applications where people are very focused on the lab side and research and maybe haven’t spent time with patients. And so, sometimes with those applications, she’s worried people might not know what they’re getting into.

[23:27] How Residency Funding Works If Medical Genetics is a Separate Residency

Anna explains they work closely with their institutions graduate medical education office. They look at how many spots are allocated, and what it looks like on a rolling basis, especially with some of their combined programs. For people in pediatrics, in genetics, or any given year of their training, part of their training is paid in part by Genetics. So they might have partial spots available at any time.

So they need to be thinking years ahead about what their funding cycle looks like. And how many will have an appointment at a given time. 

Right now, they have seven residents in the program, and some of those are categorical where they finished another residency and are just doing genetics. Then they have residents in the combined internal medicine and the maternal fetal medicine combined.

They think about all these programs branching simultaneously. Sometimes, they also look for outside funding sources. For instance, their hospital has been gracious about offering additional spots as well, especially if it’s a program they feel would benefit the hospital.

[26:06] Special Opportunities in Medical Genetics

Anna says she has a lot of colleagues who have taken a special interest in one particular syndrome. Maybe they saw a patient and there weren’t a lot of resources or information out there. So they helped start a foundation and they’re now the medical director for a specific syndrome’s patient advocacy group.

And so, there are so many opportunities to specialize if there are certain fellowships people are interested in. There are laboratory fellowships, biochemical fellowships, or if people want to do extra training to maybe run a state newborn screening program. Or if you want to specialize in neuro genetics or cardiac genetics or cancer genetics, there are infinite possibilities.

“If there's something that interests you, you can make that a special focus of your career.”Click To Tweet

[27:16] Understanding the Full Genome

Anna thinks we’re probably a long way away from understanding all of the information with regard to full genome sequencing.

That being said, there are new publications that come out that constantly add to their knowledge so they’re continually learning more. But they still have a long way to go, especially for understanding non-coding regions and epigenetics. It’s not just how our DNA is spelled, but how it is turned on and turned off at different points of development. And so, there is a lot of job security for people out there who are interested in answering those questions.

We see so much variability, even in the same family. There might be a genetic condition that runs in the family and affects two siblings in completely different ways.

[28:57] Message to Future Primary Physicians

Anna wishes primary care physicians to refer early if there is a question that comes up that a family has about genetic contribution to the disease. A lot of geneticists are very open to phone calls from outside physicians to chat about whether it’s warranted to refer a patient or not.

But testing is so accessible now so they’re able to do a lot more now than they even were five or 10 years ago because of cost. It used to be a bigger error. But now, they have a lot of options and of labs that work with insurance.

Anna also talks about setting expectations for patients, especially about why they’re being referred. They have a lot of patients who come to them after a referral from their doctor, but they maybe don’t quite understand why they’re there. Or they might say that the condition doesn’t run in their family and so they didn’t think it was genetic. So you have to be able to explain why somebody might see a geneticist or why they’re being referred. And this could help alleviate some of the family’s anxiety.

[30:14] What She Wished She Knew Before Going Into Medical Genetics

Ana thinks that the increasing realm of treatment is so exciting. In the last 10 years, there are so many new gene therapies and different medication options for things like spinal muscular atrophy, muscular dystrophy, etc.

And now, some of these new therapies are completely revolutionizing how they take care of patients. Anna adds that it’s such a complicated issue where companies have spent decades of research and development. But it does feel really hard when you see the price tag.

And talking to a family about that and making sure everything is in line with their insurance is important. And those are hard conversations but they have a team of social workers and representatives who can help navigate the paperwork needed to be accessible for patients.

[32:23] The Most and Least Liked Things

Anna loves the range of conditions they get to see, and knowing that every day is different. There’s a wide spectrum of conditions they’re able to see. You get to think about every organ system and all those rare things you learn about medical school aren’t really that rare. You see them regularly.

On the flip side, what she likes the least is trying to access treatments that are quite available. And you feel like you’re so close to having an option for a treatment for a family but you just can’t get to it quite yet. We’re going to have a lot of options in the future. Unfortunately, families don’t have that long to wait and for Anna, this can be the most disappointing.

[34:00] Final Words of Wisdom

If she had to do this all over again, Anna says she would definitely do it all over again. She couldn’t imagine any other specialty being nearly as much fun as this.

Finally, she wishes to tell students who might be interested in the field of medical genetics to contact the American College of Medical Genetics. They have a summer scholar program for people that are interested in medical genetics. You can find a member and send emails or reach out to people because they are really open to sharing information about their career paths and trying to get people interested and engage.


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