OMG thanks so much for replying. I was secretly hoping a clinical geneticist would reply and dispute much that I said about the field, because on paper it seems so perfect for me. I really love all you've said and the field is evolving so rapidly so it definitely seems like an exciting time to enter the field, especially as personalised medicine becomes so big. I would want to do IM/Genetics too or at least a prelim year in IM so i'm so glad that this is your background.
You're welcome! Mind you everything I say is n=1, so I can only speak to my experience these past 5 years of combined residency/fellowship PLUS my experience as the chief resident managing other genetics residents across disciplines and my first- and second-hand stories of Genetics attendings. I haven't yet started my new practice/job so I will have to defer questions as my position will certainly evolve as I get into it - especially since it was tailored to my preferences and isn't a fixed job description yet. Plus, I need to maintain some anonymity, as little as can be had at this point given my education and training.
I have some follow-up questions for you if that's ok.
1. Do you think the combined IM/Genetics is necessary or will you be just as good of a geneticist if you do the prelim year in IM followed by the fellowship in genetics?
Well - I think it is much easier for me personally to justify NOT being in a pediatrics department as IM-Genetics trained, so there's a plus there. Again - it depends on what you want to do with Genetics. If you are interested in dysmorphology, then perhaps IM training is superfluous since that work will focus on pediatrics and newborns. But if you wanted to practice, for example, cardiogenetics of DCM/NICM - aka genetics of adult heart failure, it would behoove you to have exposure to Cardiac ICU and inpatient cardiology to understand heart failure medications and perhaps rotate through services like Advanced Heart Failure ICUs for mechanical circulatory support management and exposure to Swan-Ganz caths / cardiac imaging rotations. If you wanted to see ARVC then rotating in cardiac electrophysiology clinics would also be a benefit.
I have posted on this very forum in the distance past the idea that you shouldn't do training if as a "stepping stone" only. Life happens and sometimes you need a Plan B. For example, I think it's dangerous to do General Surgery knowing you are only interested in a bariatric fellowship and never want to practice GS. Similarly if you are not interested in IM, maybe IM/Genetics isn't a good choice. However, you will have no backup as a categorical Genetics resident (technically it's not a "fellowship", since you will have not been board-eligible at the time of starting your training). As the same time, if you never ever want to practice IM, then I wouldn't suggest doing it.
Interestingly, I know a junior attending IM/Geneticist who up and quit Genetics to practice IM when they cut his protected research time and asked him to do more clinical work (don't ask because I don't know all the details - but as I made reference before, Geneticists can be overworked). It was bold and definitely brash for him to do that - but the point is he had options. He took a hospitalist job in IM (2 weeks on 2 weeks off), and easily doubled his salary overnight. Now, that's extreme, and not what he wanted to do - but it illustrates that IM training isn't just for show.
On the other hand, I also trained with one of the first categorical geneticists trainees in the country (after she completed a prelim year elsewhere in another specialty). She is now completing a biochemical (metabolic) fellowship this month, and she is starting another fellowship. She is well-trained and capable in my eyes. And she has no regrets - but then again she will likely not practice general genetics, or only see a very small subset of patients and is OK with that (sorry for being somewhat vague).
2. Also I would love to know more about your process for a typical pt. So how does it work exactly? A doctor consults you about a patient, how often do they give you the diagnosis and want your help counselling the patient vs don't know what's going on and want your help diagnosing the patient? Also how does the genetic testing work? Does whole genome sequencing return with a clear diagnosis or does it just inform you of areas in the patient's genome that are different to most people's genome and you have to put this in context with what you know about biochem/genetic pathology to formulate a diagnosis?
Soo much to parse in #2 - There are no typical patients. Not to be difficult - but it's true. That's a double-edged sword. Yes, there are bread-and-butter cases that can be done programmatically and fairly efficiently. But really - most patients don't fit a general picture and that's why they end up in Genetics after a very very long diagnostic odyssey. I know "House MD" gets bandied about on these forums often - but really, Genetics is the specialty that collects all the misfits (and I'm not talking just about patients.
). I recall a statistic for a particular disease that it takes on average several years from onset of significant symptoms before even get referred to Genetics for their first visit. So often patients they come with large files of the million-dollar-workup and a if they are not overt symptoms the unofficial label of "crazy".
There's soooo so much I have to say about consults from other specialties. I have worked on presenting to grand rounds for other departments and noon conferences for residents about the dos-and-don'ts of consulting Genetics - it really will take a lot of time to discuss this topic and it isn't something that is straight-forward. First and foremost, I'd say 50-75% of all inpatient consults can be completed as outpatient. Many come as a referral with a clinical diagnosis or a phenotype or concern (Charcot-Marie-Tooth, or Autism Spectrum Disorder, or Chronic Pancreatitis, Pheochromocytoma, HLH, etc...). The clearer the phenotype, the better the consult will be. If, on the other hand, the consult is "Stroke in a 45 year with multiple comorbidities and a funny looking brother" - then, don't expect us to perform miracles [and, yes, that was an actual consult request I received once. When I summarized that they were consulting me for "funny looking brother" the intern blurted out "Well, we you say it THAT way it sounds stupid!" - and I just let his statement hang in the air."
Again - I'm speaking from my training experience at a large institution. So a couple scenarios do play out: 1) When the primary team consults Everyone Underneath The Sun - wherein some adult/kid is crashing and Genetics gets swept up in the consultation dragnet. 2) The panicked consult for "interpretation" of a test that Genetics wasn't involved with and when the results are not straight-forward we are called in to clean up the mess. 3) The honest, "hey this is weird, what do you think?" thoughtful consults. Rarely - it's a consult for specific testing - for example for homocystinuria after a clear-cut clinical diagnosis by other specialties.
How Does Genetic Testing Work? This is a very open-ended question with so many ways to interpret what you want to know - before I answer, I'll ask you for clarification of what you meant by this?
When you start getting into the "diagnostic yield" of Whole Genome Sequencing (WGS) vs. Whole Exome Sequencing (WES) vs. targeted panel testing, this is the very art of my training. Also pre-test probability (yes that fun topic from Step 1-3!) is absolutely important to know. But in short, I think WGS is still clinically hard to justify vs. WES. "Clear diagnosis" can be found with any of these test technologies - but I'd say overall the yield can be low.
3. Are you ever asked to see a pt in the inpt setting or do you always wait until they are well enough to attend your clinic?
My training program runs two consult services - General Genetics and a Metabolism (biochemical) service. ABMGG requires you to have exposure to both during training, mind you. The reason for two services is to allow for some respite of the residents. Metabolic call is the one exception to the "chill" lifestyle of Genetics - it can be serious and tough to be on call, you are fielding 24/7 hotline and covering a large service area and similar to the role of centralized Poison Control you can remotely assist patient management at other facilities in times of crisis. I've had to talk through management with ED attendings at outside hospitals and even helped triage a baby a couple hours away at another academic center with a known metabolic disorder. You also need to cover newborn screening for the entire community. It's excellent training, but it can be daunting, too. I think my first solo call without a metabolic fellow (just me and an attending) began with a cardiac arrest in a 12 hour old infant who was life-flighted from a different quaternary care (as opposed to tertiary care) facility without inpatient metabolism team. Prior to COVID/consolidation of inpatient services at my training hospitals we also ran an inpatient floor metabolic service on the peds side. That is, we staffed a true inpatient team with the Genetics residents acting as the fellow, managing a senior pediatric resident and 4 peds intern + med student on the team. This might come as a surprise - but there is plenty of work for Genetics all around.
But I digress - back to general consults - Yes and no - honestly, I think connecting a patient with Genetics while there are inpatient is a good first step. I would say it is also a chance for our service to decide if inpatient vs. outpatient testing is appropriate, or if testing is appropriate at all. This starts to delve into the business of medicine and how testing in general is billed here in the U.S. and stewardship of limited medical resources, etc. etc. It's a whole topic of discussion, and probably not entirely useful if you are not planning on training/being here in the U.S. The end effect, though, is that Genetics service needs to be the "wet blanket" to cool down other excited doctors who want testing ASAP or are super-excited about a potential diagnosis.
4. You mentioned that you put one patient into a gene therapy trial, that sounds awesome. Are there any other types of interventions that you can do for patients?
Lots - beyond messing with their DNA, of course. Imagine using older drugs for new purposes. Chaperoning misfolded protein products, or opening misbehaving ion channels (think the entire "
ca
fto
r" class of medications - the hint is right in the drug class name. ASOs is an entire class of medications and includes exon skipping/alternative splicing therapies [
Antisense Oligonucleotides: An Emerging Area in Drug Discovery and Development], the old and venerable gentamicin has a secret super-power because it can "read through" premature stop codons (aka nonsense mutations). Metabolism is full of treatments and there are several treatment strategies in clinical practice from limiting substrates or eliminating/shunting toxic byproducts of affected biochemical pathways, to just touch upon a couple. Cancer oncology has excellent strategies, lots of promising therapies - just google topics like "synthetic lethality" or "parp inhibitors". All of these therapies fundamentally require a
genetic diagnosis and wouldn't be possible without a foundation in clinical and research genetics...and the list goes on and on and on...really this would be a great time to be joining into the field of Genetics, in my biased opinion. As we get better genotypical information on patients we will start seeing true personalized medicine naturally emerge. There's a movement to ditch Charcot-Marie-Tooth which was first subdivided into Type 1 and Type 2 - it's do diluted now that CMT "Type 2Z" means almost nothing. Honestly - if someone were to specific try therapies for "Type 2Z" patients, they might find they respond well to a particular drug or therapy - until then, nobody knows. Here's an example of tailoring treatment: Celiprolol [
Celiprolol] as a case example. It's an unusual beta-blocker, and not one many cardiologists know about...yet - it has not yet been approved in the US but they are specifically targeting vascular EDS due to it's unique properties. My point being, the more we know about the underlying mechanisms of many more genetic disorders, the more we will be able to treat.
5. What is the difference between the role of the genetic counsellor vs clinical geneticist?
They are different, and this much GCs and I can agree upon. Mind you, it's a Master's program, and some programs are more clinical vs. research focused. It can be a touchy subject, and a source of friction in many places, tbh. As Chief Resident, I have been privy to some tense meetings to smooth over ruffled feathers between GCs and Geneticists. It's natural as we are still trying to understand their roles as both specialties grow. To be fair, GC training is very different, but that can be lost on management sometimes when they make false equivalencies. Again - I think it a general "theme" of my training that we have to be better advocates (hence me responding here) - tirelessly advancing and explaining our role since there are not many of us around - otherwise others will be defining our roles for us. I will also say I have excellent relationships with many GCs and some of them I would trust with managing my own Mom if she needed their assistance. But their are limitations to what they can and cannot do, and I think your role as a geneticist is to be a physician first and perhaps a researcher second. I think there are tasks that many GCs do that don't make sense to have a medical geneticist do - aka you would not be "operating at the top of your license" if you were doing their equivalent work. Be certain that working with GCs will be a part of y our practice. Again with the vacuum of not enough geneticists, GCs have and will continue to push for more scope, autonomy, and even independence in clinical practice, and in some regards it is reasonable, since there is so much work to be done.
6. Can you please recommend some good resources in terms of books, videos etc that as a resident you used to study the material you needed to know to do the job as well as some materials that can give greater insight into the daily job of a geneticist. Has any geneticist every written a book about the interesting cases they've seen in their career or I guess that might not be possible as their patients would be one of so few people in the world with the condition, so it might be easy to identify them...
Thompson and Thompson Genetics in Medicine, and Smith's Recognizable Patterns of Human Malformations come to mind off the top of my head.
No - I don't know of any excellent reading for a geneticist - hmmmm there's a thought.
7. I've heard the pay is quite low and in line with pediatrics, but as you did IM/genetics would the pay be in line with IM for you?
So - one of my job offers was written for a ped-geneticist, verbally they mentioned that they would "adjust it" for IM, but I didn't pursue it mugh further than that. But you are correct - many jobs are tailored to the Peds-scale of salary, but again I think you can make your own exceptions to the rules. It cuts both ways again since there is almost no hard compensation info out there for you or your potential employer to leverage in your negotiations.
8. Please can you tell me more negatives of the field, which you would only know if you worked in the field. I just want to truly inform myself of everything.
Every specialty has its negatives. Every specialty has that one (or two) referrals/consults that can try your patience. For Genetics, it is often self-referrals and referrals for hypermobile EDS. It can be frustrating since there is no known genetic diagnosis for the disorder hEDS, and self-referrals often do not rise to the level of requiring testing (thanks Dr. Google for the referral) so imagine the endless revolving door of disappointed patients when they find out there is no "test" for hEDS or that they don't fit the criteria for XYZ.
More generally - genetic testing can be inconclusive or even negative even despite a strong clinical suspicion. Like I said before, getting an answer can sometimes take years - if you are easily frustrated or discouraged, then this is not the specialty for you.
There can be LOTS of paperwork and coordinating to successfully consent and obtain samples (especially if there are multiple family members involved). Again in the U.S. you often have to fight insurance and clarify and document or summarize clinical notes for the testing laboratories. It can be very detailed-oriented and if you are put off by some of this "tedium" then you will not like the specialty.
I will be the first to admit I am super slow at note writing. I am hardly a perfectionist, but I write detailed technical notes and have much to say. If you are hung-up on perfection in your notes, then you will find you are writing them late at night, on the weekends, etc. One of my favorite attendings is triple-boarded Peds-Neuro-Genetics and she writes the most eloquent and thoughtful notes. But she works at least 6 days a week because of her internal drive to write such notes. Mind you, beyond the Genetics department, in busy clinical practice I am certain all but a few attendings ever read her notes fully. Anyway - if you cannot be at least somewhat organized and efficient with your notes, you will drown quickly in Genetics
Also - If you have got a sense from my responses - it can be VERY tiring to have to explain to nearly everyone you ever meet professionally what you can and cannot do as a geneticist. Beyond the pediatrics department, people will look at you as if you have two heads. This might sound like a minor deal, but it can wear you down.
I really love everything you said and it sounds very much like my dream job in many ways. When I shadowed a geneticist, I literally shadowed for one day and the geneticist saw one patient that day, so that clearly wasn't a fair sample. She was also a pediatric geneticist and I've never shadowed an adlut geneticist, so i'm going to get more shadowing experience in adult genetics. From everything you've said the field sounds truly awesome and compliments my interests so much.
As lots of questions - Honestly, enthusiastic learners really make an attendings day.
Also what is the lifestyle in residency like? As well as the lifestyle in private practice?
Residency: In combined programs (Ped or IM) the Intern year is well...intern year. No Genetics. Same as it is everywhere. You ramp up 50-50 in PGY2 to something like 60-40 PGY3, and in the 100% Genetics your last PGY4 year (I am the last I believe in the country of the 5-year program, but there may still be opportunities to take an extra year of research). Beyond metabolic call, you will manage inpatient consult service rotations, have rotations in various labs (next gen sequencing, cytogenetics, molecular genetics), you will see patients in lots of different genetics clinics with GCs supervising in some (such as prenatal genetics) and working with interdisciplinary teams/attendings in others (Prader Willi clinic, craniofacial clinic with Plastic Surgery, Connective Tissue clinic with cardiology and radiology, etc. etc). Each Genetics department has different attendings and interests, you will likely also be in other specialty clinics as your interests arise (heart failure, Trisomy 21, vascular, pulmonary hypertension clinics, etc etc.). There will be graduate level coursework and case conferences and other didatics. You will interact with other residents, metabolic and Genetics attendings, MFM (high risk OBGYN) and GCs, GC students, GCAs (assistants) and lots of staff to coordinate care. You will also interface with so many other specialities.
Again, I can only speak for my own training, but a "typical" day as a senior resident (no such thing) on outpatient my go like this: I might roll in around 9-10a and go and after my first post-discharge no-show I go up and sit at a teaching microscope with a heme pathologist and quibble about whether my patient's eosinophils are vacuolated on a peripheral smear to help confirm a suspected diagnosis. Then I might pop over the the heart failure ICU to consent someone for cardiac genetic testing that's an interesting case for me, running into the head of pulm crit care who has an interesting case they want to discuss (not that interesting)...Maybe get back to the office and see a new patient for about 30-45 minutes taking a pedigree, and consenting them for testing, then since I have time, I head over to labor and delivery with the on-call attending to see a newborn with suspected Turner Syndrome based on maternal cell-free DNA screening, confirm the family history and find the cord blood sample (it's a game we like to play) for karyotyping, evaluate the child, make sure the cord blood (found it in the fridge two floors down!) makes it to our genetics lab safely and then maybe I grab some lunch with friends. Afterwards, I maybe have a no-show so instead I go and tell the PICU to tell the interns to hold TPN before repeating an abnormal Newborn Screen result (Really, guys? Every time? Really?), answer a few pointed secure messaging questions about which tube and how to order testing for such-and-such by other services/residents, then go back to the office write some notes and review testing results for a few of my patients (it's like christmas when reports are ready!) call some of them, and then read up on a new diagnosis for a new disease unexpectedly found on sequencing. Probably roll out of the office around 5-6p.
Practice: TBD
