Medical Genetics?

[sunflower18]

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Hey guys,

First thread in Allo! Hooray for starting med school!

I just have a few questions about the field of medical genetics -- most of the threads on it are 10+ years old, and since it's such a cutting-edge field, I'm sure a lot has changed since those posts were made. I was hoping that someone with more experience/knowledge could answer a few questions for me so I get a better perspective on the field 🙂 I just know started thinking about medical genetics as a career option, and the long patient visits, need for accurate diagnosis and vast medical knowledge, use of developing science and technology, and mostly pediatric patients sound really appealing.

1) I've seen Peds/Genetics residencies, Genetics fellowships, and standalone Genetics residencies. Which is the most common path, and why?
2) What is the "bread and butter" of this specialty? I'm assuming developmental disorders of some sort, but this could be totally off base.
3) Do medical geneticists conduct a lot of bench research, or can practitioners focus their practices towards clinical care and teaching?

Thanks so much!

 

[royalmedicus]

i have the same questions.

 

[Señor S]

From my experience:

1. Most common route is Peds residency followed by a Genetics fellowship; IM or Ob/Gyn followed by a Genetics fellowship is also possible. Why? The diagnosis and management of genetic conditions mostly occurs in childhood, so Peds is a natural fit. But there are other options and I've been told that the demand for an IM/Genetics is particularly high.

2. Mostly dysmorphology and metabolic conditions (PKU etc), although I'm sure there's a lot of variance between individual practices.

3. Research tends to be more clinically focused, often in conjunction with a lab that will handle the technical aspects (sequencing etc). I've been told that people who want clinically-focused jobs have no trouble getting them.

 

[sunflower18]

From my experience:

1. Most common route is Peds residency followed by a Genetics fellowship; IM or Ob/Gyn followed by a Genetics fellowship is also possible. Why? The diagnosis and management of genetic conditions mostly occurs in childhood, so Peds is a natural fit. But there are other options and I've been told that the demand for an IM/Genetics is particularly high.

2. Mostly dysmorphology and metabolic conditions (PKU etc), although I'm sure there's a lot of variance between individual practices.

3. Research tends to be more clinically focused, often in conjunction with a lab that will handle the technical aspects (sequencing etc). I've been told that people who want clinically-focused jobs have no trouble getting them.

1) okay, so doing a combined medical genetics residency is an unpopular option?

2 and 3) thanks so much!!!

 

[Señor S]

1) okay, so doing a combined medical genetics residency is an unpopular option?

2 and 3) thanks so much!!!

I don't know if I'd say "unpopular," just that it's a newer thing so not as common.

 

[mvenus929]

1) okay, so doing a combined medical genetics residency is an unpopular option?

FWIW, most people I've seen go through this path do a combined residency, which generally means they do 2 years of pediatrics, then go on to genetics. But I live near an institution that does that commonly and am only a second year peds resident, so...

 

[sunflower18]

Okay, thanks @Señor S and @mvenus929 ! 🙂 Very helpful!!

 

[karayaa]

I shadowed a medical geneticist who splits her time between clinic and a wet lab.
She spends time in the NICU and in an outpatient clinic, seeing newborns, talking with people who are pregnant or want to become pregnant but want to know risks, including sometimes after having a kid w a genetic difference. She sees a lot of kids who have an undiagnosed developmental difference - lots of counseling and education and reasurance, talking to parents about the risk of defects, the genetic differences found (via DNA tests) in kids and the implications for their future (largely unknown, but she provides examples and case studies of outcomes of patients with the same genetic changes and connects them with support groups where they can network with parents who have kids with similar conditions and find out about clinical trials etc that might shed more light on the condition). She often talks to parents about kids' behavior, school performance, helps them get the accomodations they need. Lots of the parents are stressed by their kids' condition. Lots of anxiety and uncertainty.
She's pediatrics+medical genetics (she trained a while ago - I doubt the different paths make a differnce - it's more about what you're interested in)
. She sometimes seees adults in the clinic, but mostly young kids and parents. She oversees med students, residents, and fellows.
In the lab, she focuses on a v specific type of developmental defect that is complex and poorly understood, sequencing DNA from symptomatic patients to identify differences and using an animal model to assess the impact of the differences on development.
Like @Señor S said, it is clinical in a sense, because it's trying to understand the origin of a clinical problem, but the process is completely bench based. Her lab does basic sequence analysis, but collabs with statisticians who do most of the computer-based work.
I'm sure you could find a clinical job that a med center that would only involve supervising/teaching students and trainees.
There's no therapy - the specialty seems v diagnostic, focused on providing info to help parents understand the situation.
It feels like one of the most "scientific" medical specialties, because the subject matter (genetics and development) is so complex and beyond most patients' knowledge. Lots of explaining what chromosomes are - her education stays at a high school level, like most doctors.
None of her patients are "sick" - they have development differences, but they're healthy. They're not on any medication. Some have congenital defects (heart etc) that have been repaired at birth.
Re accurate diagnoses...she's able to tell them exactly what the genetic difference is (if their insurance will pay for a precise test that sequences the gene in question), but that info is pretty meaningless. It can help the parents' peace of mind because it provides an "explanation", but it's hard to make a prognosis from it. We don't have enough data to know it's significance.
Re patient vists, the patients can be in the room for a long time - often more than an hour, but the attending will often see them just about 10-20min. 30min is a long time. She rushes between rooms and the workstation where she quizzes/teaches her students.
Followups can be at 6mos or a year, but often depend on the parents to initiate it, bc there's no ongoing treatment/monitoring, because there's no disease process. There is an opportunity to develop close relationships with families, because it's such a stressful time, but eventually they will stop coming in as they learn everything there is to know. It's not like primary care where you see someone their whole life.
re developmental disorders...She examines them, but she doesn't focus on the disorder so much as the genetic basis. She only thinks about developmental changes onyl as they relate to the diagnosis, if that makes sense. General or Developmental pediatricians or psychologists might focus more on the developmental aspects.
A lot of the kids that come in are managed perfectly well from a medical standpoint by general peds.
This is at an academic medical center fwiw.
Hope it helps! 🙂

 

[Lord_Vader]

Is the field going to grow with the advent of personalized medicine and whole genome sequencing? And what about potential treatment venues with new technologies like gene therapy?

 

[scribePT]

This is my thought processes, so I'm curious as well.

Is there a bright future for medical genetics?

 

[songl4a]

.

 

[NimbleNavigator]

Maybe in a decade or two is my guess as squencing has become more prevalent whereas what that information tells us is still being uncovered.
NIH recieved federal funding from Obama administration for personalized medicine and hopefully Hillary continues with a more significant amount.

"Hopefully" Crooked Hillary is not elected to public office again, ever.