Pediatric Clinical Genetics

[marcus_aurelius]

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I am really interested in this field.

i know that it isnt that big, but was wondering if any of you were being trained in this area?

what is the current potential for treating genetic diseases prenatally.

are physicians using gene therapy to cure some diseases today, or is this field mainly used to screen for genetic abnormalities.

what do these guys do?

what practice setting do they work in?

what is pay/lifestyle like?

what type of collaborations are there with the private research sector?

is it better to go into ob-gyn, IM or peds to practice clinical genetics and treat children?

what kind of grades and board scores are needed to go into this field.

 

[jcanguy]

I'm interested as well. I'm at the same stage as you, but I've been exploring and talking to a few people, so thought I'd share my take - hopefully, if I'm way off, someone will let us know...


>what is the current potential for treating genetic diseases prenatally.
I gather that prenatal genetics is really a matter of genetic counselling, including breaching with the prospective parents management with regard to TOP vs long term prognosis

>are physicians using gene therapy to cure some diseases today, or is this field mainly used to screen for genetic abnormalities.
There are a few trials - Fanconi's anemia at Cinci childrens is one example, but the primary difficulty at present is getting the gene in, and then ensuring it does what it's suppose to. But, yeah, alot if it has to do with screening and early detection (particularly coming up with new diagnostic tests?)

>what do these guys do?
My very limited understanding is that the field is divided into Molecular genetics (like sickle cell or CF), Cytogenetics (eg trisomies) and Biochemical genetics (strange pathway disorders), and that there are quite a few referrals from both adults and children, as well as in pregnancy, which are anything from straightforward clinical diagnoses (Down syndrome?) to strange dysmorphisms and disorders where noone's sure what's going on...

>what practice setting do they work in?
No clue, I figure mostly hospital based

>what is pay/lifestyle like?
No clue about pay, but genetic emergencies are few...

>what type of collaborations are there with the private research sector?
The research aspects (both private and Govt funded) are the most exciting aspects for me. There's lots to do, especially with the expansion of genetics to include complex diseases...

>what kind of grades and board scores are needed to go into this field?
My enquires suggest that there are very few applicants, but since it's a post-residency residency (or one of the combined programs) the issue of scores may not be a big one, at least as far as competitiveness, but they don't just let anyone in, that's for sure (but I'm not sure what criteria are used)

If someone wants to set me right, I'd really appreciate it knocking down any myths I (or anyone else) harbor.

 

[Tribeca]

I am currently a volunteer research assistant for the ONLY pediatric gentetecist in our state, and man, she's busy. She heads the states school of medicine's pediatrics/genetics division, has her own practice, does research clinics in conjuction with a university in KY, does free clinics through the state Health Division and a foundation for children with neurogenetic disorders, has NIH grants for FAS and William's Syndrome (she discovered the missing elastin gene in William's syndrome)... I don't know what else she's up to. When I shadow her during genetics clinics, she usually gives counseling for families, explains implications of a syndrome, provides community resources, suggests any therapies the child may need, monitors siblings...Anyway, she was giving me advice if i wanted to go into pediatric genetics. She said that during her time, she did a pediatric residency and a 1 year fellowship in genetics. Currently, she says there are 4 or five year programs that combines both, or there is a genetics residency that covers everything. Hope this helps.

 

[oldbearprofessor]

>what is pay/lifestyle like?
No clue about pay, but genetic emergencies are few...

>

Although this is true, geneticists in a tertiary pediatric medical center will work hard when on the clinical service. And, believe it or not, there are "emergencies" in their business. Hyperammonemia such as occurs with various problems such as urea cycle defects require emergent intervention including the possibility of dialysis. We've had our geneticists at the bedside working on this with us at all hours. Not often, but it happens 😛

In regards to the rest of the career issues, others can answer it better, but currently, most newly trained geneticists will be heavily involved in basic science research although some focus their research on clinically defining various syndromes.

Regards

OBP

 

[ZAZA67401]

I have long been interested in med genetics. I am a first year and still very much leaning toward med genetics, but I am beginning to see Neonatal and pediatric critical care as possibilities as well. I have never been that interested in basic science research, but epidemology does appeal to me a little, in so far as trying to understand the etiology of developmental disabilities. Anyway, before I start rammbling too much... has anyone else thought about these two in addition to/or besides med genetics. What the pluses and minues are between them? I am just a 1st year, so don't know yet, but if anyone wants to give their ideas, it would just be fun to hear what you all think?

It seems like neonate and critical care would also have a lot of med genetics and care for children with developmental disabilities?

 

[ZAZA67401]

No one has any thoughts?