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!
