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Medical Genetics?

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Kakarrott

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Hello there,

I want to ask you guys about this branch of medicine. I found it quite recently and there seems to be quite a little info about it. Most of the information I found was here in years old threads, so I decided that hopefully, I can get some new perspectives and insights.

My first question obviously is if this is still a thing if I can be interested in Medical Genetics and find a job in a 10 years span. (If I can do it all).

My second question is quite obvious too, which route is the best one. In those threads, I mentioned I found some possibilities to be.

Pediatrics - Neonatal - Geneticist
IM/Genetics combined
Pediatrics/Genetics combined
Ob/Gyn + Genetics combined

Is this still a thing or has something changed? Any route better than a previous, I mean competence wise, length is not a problem for me.

My third question is really more like the need for confirmation.

Most of the people on the internet mentioned that Genetics is a field that has everything that's for me interesting. It combines detective work because each genetic patient is unique. It combines that I would most likely know my patients for quite some time because it isn't something that can be done in a span of weeks. You get to treat, or take care of and diagnose, NICU patients (I am no weirdo or creep but there is something incredibly rewarding and interesting on treating (anyhow helping) those who cannot do anything themselves. There is some hero factor in it). You get to see cancer (which is also very interesting). And there is always a room for research.
Basically, I think it is very challenging, not repeating (kinda allergic to boredom... repetitiveness) specialty that needs some scientific proficiency.

this is what I find interesting from what I know or thing, can you please tell me if I am wrong somewhere or if there's, even more, I can do?

My last question is just out of curiosity. I understand that what I am asking is hardly possible and even if it is possible it would be incredibly hard but I am gonna ask anyway :D

Naturally, Genetics isn't the only thing I am interested in, but it seems that my Interest generally is in human body disorders. Genetics, Immunology, and Endocrinology are what interests me most (besides Cancer). So basically my question is if those areas can be somehow combined in one practice. I feel like it is somehow connected but I am not sure if one man can do more than one of those (or maybe all of them.) But as I said this is more out of curiosity than anything else because that's how I see it now.

Anyway, thank you guys who have red it all the way here :) It means a lot to me.. Thank you in advance for any insight.

ps. Someone back then (this time on old Reddit post) mentioned that there are/were many branches of genetics (Lysosomal Disorders, Cancer Genetics, Cardiovascular Congenital Disorders etc.) so I wondered if you like, have to choose one and dive deep into that or if you can, like, switch between them, or meet patients with every type of disorder and not just the one you are deep into.
 

Anti-PD1

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That sounds like a really cool career path. I remember we had a patient on peds with intractable seizures, and it took a medical geneticist to diagnose an extremely rare channelopathy. Neat stuff. I'll defer to students going into medical genetics, though I'm guessing there are very few.

Some resources:
List of Accredited Programs | ABMGG

List of currently accredited programs
ACGME - Accreditation Data System (ADS)
 

shortcoatdream15

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I’m pre med so my knowledge is very limited, but I shadowed a pediatric medical geneticist (who worked on a team with a PhD genetic counselor) at NIH, in NICHD specifically. It was super interesting and is actually the closest I’ve come to seeing what might be an ideal career path for me. Because it was at the NIH the experience is surely a bit unique, but he saw kids from all over the world (flown in on the institute’s dime) with rare genetic and endocronological disorders. Most of the time, these kids came with unusual physical/behavioral presentations and the doc would assess them and often order genetic testing for diagnosis. He was the closest I think you could get to Dr House in real life. The downside is that a lot of these patients have diseases for which there are no good treatments, which can be a bit sad. The genetic counselor would work with the families to determine if the traits were heritable, if future children are at risk, etc.

It was an incredible range of pathologies and patient presentations. I also got to sit in on some round table meetings with a bunch of super specialists in endocrine tumors where he was consulting, I got to see a patient born with both male and female genitalia for which he was in charge of hormone therapy, etc. He ran his own research protocols, trained students and interns, etc. It’s a really incredible field that I imagine will become more important and more embedded within all specialties in the coming decades.
 

lemurcatta

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With whole exome sequencing now being done “routinely” at some centers to make rare diagnoses, and as targeted therapy for cancer and pharmacogenomics becomes more popular, there will be a need for MDs with a deep knowledge in clinical genetics. Definitely will be a thing in the future.
 
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shortcoatdream15

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Where do you anticipate new technologies and therapies in the realm of “personalized medicine” taking the field with regard to salary and competitiveness
 

lemurcatta

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I’m not a clinical geneticist, I’m a graduate student in the biosciences. But I’m at a medical center that is doing whole genomes and exomes as diagnostic studies and this area is really poised to take off. Let’s say you have what appears to be a hereditary colon CA segregating as a dominant trait in a family. No known HNPCC mutations found. Referred to our center for whole exome, and new variants in mismatch repair genes are identified. Boom, a diagnosis and a basic science discovery at the same time. I think this is a very exciting area. As far as reimbursement, I’m not sure. These positions will probably be academic for a lot of reasons.

As far as targeted therapy, there will definitely be a need for molecular diagnostics and tumor sequencing to ID both novel and known mutations that might be susceptible to current and future targeted therapeutics. This is the direction we are going down in cancer and don’t see that changing. Again, salary I am not sure. Hopefully an Md can pipe in.
 

Kakarrott

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Even though this thread died (at least it seems so) I would like to add some questions and maybe someday someone will be bored enough to look here and answer :D (hopefully soon enough)

I would love to know, let's say, weekly routine of Medical Geneticist.
I have heard about people teaching, doing clinical work, doing consultations, doing research. I have even heard about geneticist assisting with NICU cases in case they were caused genetic disorders.
But no one can squeeze this into one day or at least not so to do anything productive in those parts. So how do those people do all of this stuff? Or is it that no one does so much and I have a misinterpreted something.

Also, I would like to know how much this overlap with other fields. I understand it that you work closely with some, like Endo, Immuno, Oncology, Peds, maybe Neonatal. But genetic disorder can be anywhere in the body, in any shape or form, so don't you basically need to know a bit about every speciality? At least enough to know when it is a common illness that your patient has or if it really is a genetic something.

Also, I would like to know how much procedures you can as a Geneticist do. I cant think of very many, but I have a long way ahead of being a doctor so maybe something is in shadows for me yet. I might add a question how much imagining you do? I do think that a Geneticist does a lot of imagining but I am certainly not sure.

There are many subspecialties in this field, and I wonder if you can be subspecialized in more than one. I know it takes a lot of effort and a lot of training but ultimately if you can do just about everything this field offer.

I have much more questions but who would want to read any longer. Maybe if someone answers, I will add some more to bother that good man once more :D
 

When is graduation again?

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Even though this thread died (at least it seems so) I would like to add some questions and maybe someday someone will be bored enough to look here and answer :D (hopefully soon enough)

I would love to know, let's say, weekly routine of Medical Geneticist.
I have heard about people teaching, doing clinical work, doing consultations, doing research. I have even heard about geneticist assisting with NICU cases in case they were caused genetic disorders.
But no one can squeeze this into one day or at least not so to do anything productive in those parts. So how do those people do all of this stuff? Or is it that no one does so much and I have a misinterpreted something.

Also, I would like to know how much this overlap with other fields. I understand it that you work closely with some, like Endo, Immuno, Oncology, Peds, maybe Neonatal. But genetic disorder can be anywhere in the body, in any shape or form, so don't you basically need to know a bit about every speciality? At least enough to know when it is a common illness that your patient has or if it really is a genetic something.

Also, I would like to know how much procedures you can as a Geneticist do. I cant think of very many, but I have a long way ahead of being a doctor so maybe something is in shadows for me yet. I might add a question how much imagining you do? I do think that a Geneticist does a lot of imagining but I am certainly not sure.

There are many subspecialties in this field, and I wonder if you can be subspecialized in more than one. I know it takes a lot of effort and a lot of training but ultimately if you can do just about everything this field offer.

I have much more questions but who would want to read any longer. Maybe if someone answers, I will add some more to bother that good man once more :D
I've done a month long rotation with medical geneticists in a non-academic setting. By-in-large, the majority of what they do clinically is diagnostic work. There primary goal is to diagnose and/or rule out genetic possibilities. They use dysmorphology to come up with a differential diagnosis then f/u with the appropriate genetic testing (karyotype, gene panels, exome sequencing, etc). After diagnosis is made they f/u with more complicated patients usually every 1-2 years depending on diagnosis. Sometimes the goal is just to find a diagnosis then refer to other medical specialties that can monitor for potential complications. Patient evals are usually about an hour and 30 minutes because the exams are very thorough.

They do take call at hospitals for advanced cases. As far as their communication with other specialties, it is usually in a referring role. They refer and take referrals. They don't really work that closely diagnostically with other specialties (other than reading notes) because their exams are very thorough and function independently of other specialties.

I didn't witness any procedures. They do sample tissue from the achilles heels of stillborn infants to run genetic testing, but I believe that's about it.

I can't answer the specifics of research, because I didn't participate in that, but I believe it's expected for at least residency. The docs I worked with continued to do research focusing on specific gene mutations and continued to present at conferences.

Also importantly. It is a huge paycut to be a medical geneticist currently. Salary could go up, but right now it is very undervalued work. Also they tend to be Pediatricians with Fellowship training because the majority of rare/interesting genetic anomalies present during infancy/childhood. Adult medical geneticists typically see cancer syndromes, which tend to be much easier to work up. The geneticists I worked with encouraged me to only see their child patients because the adult cases were considered boring.
 

Kakarrott

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They don't really work that closely diagnostically with other specialties (other than reading notes) because their exams are very thorough and function independently of other specialties.

So this Does mean that you have to be a kind of generalist? To know everything good enough, so you don't have to consult but look upon almost everything yourself?
 

When is graduation again?

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So this Does mean that you have to be a kind of generalist? To know everything good enough, so you don't have to consult but look upon almost everything yourself?
No. You're a specialist that focuses on genetics.

I think your confusion is that genetic conditions can effect every part of the body, so you're assuming you have to know everything. But that isn't the case. Typically with these conditions, the patient is being referred to the geneticists by other PCPs or specialists because of the amount of strange presenting conditions. The initial doctor considers a genetic cause and refers to genetics. At which point, the geneticist uses the medical history, interview, family history and physical exam/dysmorphology to determine differential diagnoses. Then they order genetic tests based on likely possibilities, diagnose the patient, and refer to other specialists to handle treatment and monitoring future complications. The main purpose of getting these tests is because many of these syndromes have future health complications associated with them, so if you know what the genetic syndrome is, you can monitor for associated tumors/cancers, bone fractures, ocular conditions, CV risks, etc. It helps with prognosis and helps ease parents/children's minds knowing they're not the only people going through the situation.
 

Naruhodo

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Hi there,

As a medical geneticist you may chose to specialize and become an expert in certain conditions (though you probably need to think of your location and patient population) or you can see many different types of patients. You can be 100% clinical, or you can do clinical or basic science research, or you can get involved with teaching, or public policy. There is a great youtube channel put out by the American College of Medical Genetics where they interview a number of geneticists about what they do that I would recommend ().

Also, read the comments by Mendelssohn on here (Peds/Med Genetics). This person put a lot of energy into writing good, thorough answers for med students interested in medical genetics and their answers are well informed.

Finally, I just want to clarify a statement made above about "a patient born with both male and female genitalia". Many people misunderstand differences of sex development/ intersex conditions, and unfortunately there has been a lot of strife between this community and the medical establishment. All human beings basically start out with the same developmental tissue programmed to become gonads/reproductive organs, so it's not really possible to have more than one set. What you do see is tissue somewhere between the size of what you expect a clitoris to be versus a penis, or someone whose right gonad is a testicle and left gonad is an ovary. The main thing is to focus on health, and remember that variation is a normal part of life. This is a touching video put out by Human Rights Watch for those who are interested: Video: End Irreversible Genital Surgeries on Intersex Infants in the US

Best of luck as you consider your options!
 

Kakarrott

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Thank you so much for your input I will definitely watch the channel and read through the other post :)
 
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raspberryberet

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Hi there! Thanks everyone for all the great info on this thread! I have another question that may be a bit harder to answer. I really wanted a combined internal medicine/genetics residency, but as there are so few slots I ended up matching in categorical IM. Where can I go from here? I plan on doing a fellowship, so a full 2-year genetics residency after IM is out of the question. I still intend on going into a subspecialty with strong genetics applications, but I just find the prospect of giving up on pure genetics training hard. :( Are there any one-year fellowships open to MD's with residency training in fields other than medical genetics? Another thing I'm thinking about is the NIH's research rotations for residents - do they only let you do it once, or could I feasibly do one rotation in genetics and another in my subspecialty of choice?

Sorry this is so all over the place...I have way too much time on my hands right now haha!
 

Naruhodo

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I'm sorry, I'm coming up blank. I was going to suggest maybe a one year molecular genetic pathology fellowship, but it seems that most programs really want fellows to be board eligible in AP, CP, or clinical genetics. There is the new NIH-ACMG fellowship in genomic medicine program management (which looks super interesting) but that is also 24 months. I don't know the rules regarding residency rotations at the NIH. Best of luck to you!
 
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TelemarketingEnigma

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The NIH-ACMG fellowship isn't, to my knowledge, intended as a training program in medical genetics - while there is a clinical component, the major focus of the fellowship is scientific management of large genomic medicine research programs. This could be a great program for someone who wants to get into the administrative end of research, but not if you're specifically looking for clinical training.

(Not a medical geneticist, but I am familiar with the program)
 
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Brucelaa67

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Hi! Everyone I'm an IMG doin my MD in Biochemistry.
I want to get into Medical Genetics Programme at US.
I've taken Step 1 and Step 2CK, and going to take Step 2CS shortly.
Is Medical Genetics favorable for an IMG?
Thank you.
 

Naruhodo

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As I'm sure you know (and it sounds like you are preparing) it is never easy for IMGs securing a US residency, but yes I have heard medical genetics residencies are willing to consider IMGs with the right credentials. Is your interest in peds, IM, MFM, something else/medical genetics?
 
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