What to expect at a geneticist appointment?

amother

Thu, Apr 10 2014, 8:13 pm

We have an appointment in a few weeks with a geneticist. I was wondering if anyone has ever been to one and can tell me what we should expect. We are going because my DD was born with a leg condition and they want to rule out the genetic component. What will they do, besides a blood test. Is there any info that DH and I should get a hold of before hand?

TIA!

amother

Thu, Apr 10 2014, 8:34 pm

They will review your child's medical history. This includes pregnancy and birth, developmental milestones, specialists you've seen, medications, surgeries and prior labwork. Then a family history reviewing 3 generations (back to your grandparents). This includes how many people in the family, how they are related to you and any known diagnosis / cause of death. The geneticist will do a physical exam for your child. Child should wear clothing that's easy to remove from head to toe. Then a blood test and possibly urine test depending on what the doctor suspects. Sometimes they look at parents for comparison. Bring copies of prior lab tests, growth charts, x-ray and other imaging reports. If there's a possible skeletal condition, thd doctor may find a copy of the actual x-ray on a CD helpful.

amother

Thu, May 01 2014, 9:51 pm

My ds was born with a heart condition so we took him to a geneticist. Just try to gather all family history before you go..it will make appt. go smoother. They take in-depth family history. My dd was also born with a congenital club foot. There is no family history of it (neither of heart condition) but it is always better to check it out and not have to wonder. Good Luck!

Jewishmofm

Thu, May 01 2014, 10:31 pm

what to bring has been covered.
As for what to expect: At this first visit, they'll just be gathering data. They will then need time to review it, to dig through it and find other instances of similar genetic maps. This can take anywhere from a few days to a few weeks. Then they will call you to meet again to discuss the implications of what they have found/have not found. At this point they usually call in a genetic counselor (somebody well trained in both genetics and psychology) to help you sort your responses to the situation, if there is one, and to tell you what the "road map" for your situation is, again assuming both that there is a situation and a road map of prior cases with that situation. That is usually the end of their involvement in your case.

amother

Fri, May 02 2014, 2:37 am

There are genetic counselors in my extended family but I never told them I have no idea what they do. I always thought they advise people on chances of having child with Tay-Sachs or other genetic disorders, but it can't be just that because they on first-name basis with head of every dept. in hospital. what, exactly, does GC do?

manhattanmom

Mon, May 05 2014, 8:40 pm

I believe that genetic counselors differ greatly from a geneticist. As a geneticist is an M.D. who is able to study your case history and make a diagnosis of a particular condition, etc.
while a genetic counselor can go through your family history, medical history, etc. and tell you what your chances are of having a child with a particular genetic trait.

Jewishmofm

Tue, May 06 2014, 1:56 am

To clarify: Geneticist is an MD who specializes in study of and discovery of genetic disorders, in general and in specific tracking down genetic basis for unexpected symptoms. They resort to everything from blood tests to family histories to physical presentation "landmarks" to identify the genetics at play. The genetic counselor has to be up to date on advances in every.single.field of medicine, as they deal with people who are a)carrying or b)dealing with a genetic disorder - which can present in a gazillion different ways.(for example, it may affect bone structure, the genetic counselor must be up to date on orthopedics and prosthetics) Some of these things are hereditary, they are passed down from parent to child and some are not - as in a case where some genes are deleted or multiplied in copying and transmission. These counselors are the ones who explain what your diagnosis (as found by the geneticist) actually means for your life: the chances of passing it down, what sorts of issues (developmental, academic, physical) you may encounter, what types of therapies (surgery, medicine, prevention, supports) may be necessary and are available. The genetic counselor must also have a background in psychology, as a lot of typical counseling comes into play to when helping families affected by genetic disorders of any sort to deal with it and to make difficult decisions with far-reaching ramifications because of it.It's a field that is rife with halachic import. (for example, in certain arenas, policy requires the GC to put forth abortion as the only option. or to suggest halachically questionable routes to bearing healthy children)

Sorry for being so long winded, hope this helped somebody.