Solving Genetic Puzzles With Clinical Genetics and Genomics

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SS 176: Solving Genetic Puzzles With Clinical Genetics and Genomics

Session 176

Dr. Elizabeth Chao is an academic doctor practicing medical genetics and genomics. She talks about her lifestyle and the promising future of clinical genetics. If this is something you might be interested in, or at least consider for your rotations in the future, check out the American College of Medical Genetics for more information.

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

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

[01:29] Medical Genetics as a Hidden Specialty

It actually took Elizabeth quite a long time to come around to the fact that she wanted to complete her medical training in genetics, and that it was how she wanted to practice medicine.

Many students don’t think about genetics as a medical specialty. Interestingly, medical genetics is one of the first courses most students will take in medical school. It’s usually a required first-year course, some schools will do it in the second year. But they all have some exposure, at least, because that’s a required part of the curriculum.

“Medical genetics is one of the first courses most students will take in medical school.”Click To Tweet

What Elizabeth thinks is the missing piece is that they don’t see it a lot in action. Once students get into their third and fourth years, and they’re doing their clinical rotations, they really are seeing a lot more of the common diseases and presentations, maybe a little bit in pediatrics and a little bit in the OB or prenatal setting. But there’s not a lot of exposure to patients in general with rare diseases or rare presentations, which what they deal with the most in clinical genetics.

Most people think of genetics as being more in the research setting or maybe a Ph.D., or on the science side. It is a big part of what they do. But geneticists also practice medicine. They see and take care of patients, they make diagnoses, and they manage patients using a lot of information.

Because Elizabeth didn’t have a clear path towards medical genetics, one of the things that drew her interest in this field was cancer genetics. She had taken some time off to do research. And because she had not been exposed greatly to the field of Medical Genetics, she figured that her path lay in oncology.

So she started out on the path to becoming an oncologist and began her clinical training within internal medicine with the intention of going into oncology. But then she met a mentor during her residency who is a cancer geneticist. He had arrived at his career through the path of training in clinical genetics. The fact that she was able to bring science to the bedside every day was something she came to love right away.

[06:45] Typical Day and Taking Calls

Elizabeth’s typical day is a blend of teaching research and clinical responsibilities depending on the time of the month. There would be times when she would be covering the hospital. Occasionally, they get consults from the pediatric or the adult floors. So she might get called on probably somewhere between four to six patients. Then the rest of her days would be in the clinic, but most geneticists will have not a full clinic schedule.

On clinic days, she would see four patients in the morning, and schedule them on the hour because she spends a lot of time with her patients and preparing for them. It’s a little bit different from other specialties because of the amount of time they spend with patients and talking with families in the course of those visits.

Sometimes, they would get calls for presumed prenatal diagnosis or a prenatal diagnosis. But oftentimes, it’s a birth defect or a congenital anomaly, or some features that the neonatologist might notice that there’s some concern for a genetic cause.

They don’t have their own inpatient service. They get consults pretty regularly, around four to six per week, which again take up a significant amount of time.

They often get called in for inpatient consultation on newborns, birth defects, or multiple congenital anomalies. And they find that only a small percentage of them turn out to have an underlying genetic etiology. So they wind up following up long term to make sure they get the appropriate counseling and care they need for their diagnosis.

[11:20] The Training Path

The clinical residency is two years. And before you start, primary training is required, which historically has been two years of training. And usually, that’s internal medicine or pediatrics, although they may have reduced that to a single year now.

So now, at the minimum, you do a preliminary year either in internal medicine or pediatrics, followed by two years of residency training in clinical genetics. 

The vast majority of trainees come out of either pediatrics training programs or in OB/GYN as well as their combined training programs for both of those. Then they also have a lot of combined trainees in genetics. There are instances when someone also trained in medical genetics is practicing obstetrics, for example, but then they’re using their genetics knowledge.

On the other side of things, the vast majority of medical geneticists are practicing full-time genetics. They have their primary training serving as backup for their general medical knowledge. But they’re not actually seeing patients outside of the genetics practice.

'It's pretty uncommon for clinical geneticists who've trained in pediatrics to continue to see general pediatrics patients.'Click To Tweet

[13:55] Message for Future Primary Care Physicians

“I wish everybody knew more about medical genetics and the ways that we're applying it now to different diseases across the board.”Click To Tweet

People hear more about their bread and butter cases like Down syndrome or multiple congenital anomalies. But in their practice, and especially on the outpatient side, they are taking care of patients with all sorts of cases that were previously thought of as the more common diseases.

For example, they’re taking care of families with a history of cancer and these conditions run in particular families or maybe earlier onset. That way, they can actually practice preventative medicine across the family, rather than, just identifying one individual affected. 

One other piece is the growing number of treatments coming out for some of these genetic disorders. Conditions have started to be improving a few decades ago with some of the enzyme replacement therapies. Indeed, the field is growing exponentially with some of the targeted therapies that treat specific mutations or specific gene alterations. They’re able to do so much more for their patients than they ever have been before. And that’s really exciting.

What has also changed over the last five to 10 years is they’re able to offer targeted treatments they can make available based on genetic testing results.

[16:00] What She Wished She Knew Before

Elizabeth says that if she had the chance to do a road map, she would have chosen to do a rotation earlier on. Then her own career path would have been more straightforward if she really knew what this practice was like.

She also feels very lucky to have been trained during the period of The Human Genome Project. There was this ongoing genomic revolution and the practice of Medical Genetics has changed so much.

They finished sequencing in 2003 and that sounds like a long time ago, but it’s now that the revolution is really happening in the practice of medicine. It’s not just about what they know, but what they can do with that information to improve patient care.

Elizabeth hopes students are aware that the field is transforming and it is going to continue for some time.

[18:11] The Advent of Direct-to-Consumer Testing

Currently, most of the companies that offer direct-to-consumer testing on a large scale are working well with the FDA and other regulatory bodies now. So there is less concern with regard to that now compared to before when there were no clear regulations.

That being said, Elizabeth points out that the genetics workforce is too small to bring what they know out to the general population. And so, they’re still centered at the large tertiary care centers.

There are not enough geneticists or genetic counselors to reach the U.S. population. So they’re hoping that other specialists will get involved in providing genetic space medical care.

'I hope that some of this direct-to-consumer testing will encourage patients everywhere to understand more about their genetics, and to use that information responsibly.'Click To Tweet

[19:40] The Most and Least Liked Things

Elizabeth likes the mysteries of it since many of her patients are undiagnosed diseases. Many of them have been seen by multiple other specialties. And so, in many cases, they’re the last call to try to finally solve the problem. 

'Each patient is a puzzle, each family is a puzzle. You can never say never in genetics.'Click To Tweet

She adds that genetics is all about the exceptional and the rare, unusual case presentations. And she just loves to dig into that and read new literature every single day as part of taking care of patients.

Moreover, what she keeps on reiterating with her patients is that genetics can only tell us so much about who a person is and who they’re going to be. 

They can’t tell the family exactly what path their child is going to take or what their child is going to be able to achieve. They can only speak in general terms. But they’ve all seen those miraculous cases.

“Genetics can get us to a point where it can give us general characteristics of a population. But there's so much more that plays into who we are, who we become, and what we achieve.'Click To Tweet

On the flip side, what she likes the least about the field is the reimbursement practice. There’s a lack of recognition about the value of genetic services and that’s a battle they’re all trying to fight as they come through this genomics revolution. Elizabeth strongly believes that genetic services should be part of the standard medical plan because what they provide is extremely valuable in terms of patient outcomes.

[25:12] Final Words of Wisdom

If she had to do it all over again, Elizabeth says she would still have chosen the same. Finally, she wishes to tell students who might be interested in this field to at least do a rotation and see what it’s like. They have so many students who eventually rotate through with them and find it a wonderful and fascinating experience. 

The lack of exposure is the reason why their workforce is so small. So if you’re interested in creative thinking and thoughtful management of your patients and getting to spend lots of time with your patients, and getting to know them and their families, this is a great field to get into.


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