Why You Should Have a Genetics Consultation

Jan 23, 2012 by admin

Someone has suggested that you see a Geneticist.  The only thing you know about genetics is what you learned in school, or what you see in the movies.  Maybe there was a story on the news about something.  You have an idea that geneticists work with genes and problems that run in families.  That seems pretty…well…scary.  Or at least weird.

 

What is a Medical Geneticist?

A Medical Geneticist is a medical doctor (M.D. or D.O.) with specialized training in Genetics.  S/he completed training after medical school in Medical Genetics and is certified by the American Board of Medical Genetics and Genomics. Some Medical Geneticists choose to practice mostly on one sort of problem – like children with birth defects, or people with cancer  – but Medical Geneticists can see patients of any age or background.

 

What does a Medical Geneticist do?

Mostly a Medical Geneticist is a diagnostician – someone who concentrates on trying to find a single explanation for all the symptoms.  You may have a heart doctor, an ear-nose-throat doctor, a specialized surgeon, and a neurologist.  Each of these doctors is concentrating on a particular part of the body.  A Medical Geneticist looks at the whole patient and tries to understand what led to the problems.

 

What will happen at a Genetics Clinic visit?

Before the visit, like with any doctor’s office, you will be given forms to fill out.  You have these in advance so you can look up information or ask the family for help.  The more detail you can give when filling in the forms, the better.  It also helps for you to bring pictures of the family with you to the visit.

 

The appointment itself will be very much like any other doctor’s office visit except for two things: it will take longer and the questions asked will be different.  A Genetics consultation can take an hour or more and may involve more than one visit to the office. You will be asked detailed questions about what happened during the patient’s pregnancy and about the family history.

There will be a chance to talk about any recommended tests – pros, cons, cost, etc.  If a diagnosis is made, there will be a lot of talking about the diagnosis.  The Medical Geneticist will speak with you about what the diagnosis is, who else may need to be tested, the chance of another person in the family being affected and other necessary information.

 

What sort of tests will there be?

There are three types of medical tests, and Medical Geneticists use them all.

History: What is the story of the patient?  This is why the visit takes so long.  Details are important.  All information is a clue.  Sometimes the patient’s story is enough to make a diagnosis.

Physical Exam: This may include things no other doctor does – like measure the patient’s hands and feet, or look at the skin under a special light.   Sometimes the physical exam, along with the patient’s story, are enough to make the diagnosis.  Most of the time, they are at least enough to give a general idea of the problem, or put it in a category of disease.

Laboratory Testing: In many ways, this may the least important.  If the history and physical exam tell the answer, then testing may just confirm it.  Sometimes, the history and physical exam give a general idea and focused laboratory testing pins down the answer.  And, yes, sometimes the history and physical aren’t enough and general testing is done in hopes of finding something.

 

Is there a treatment?

Some genetic conditions can be controlled or managed with a medication or specialized diet.  Mostly these are diseases that involve the metabolism – the way the body uses proteins or fats. A few diseases called ‘storage diseases’ have treatments that help the body get rid of a compound that is building up.

Unfortunately, for most genetic conditions, there is no special treatment.  We do not yet have a way to fix the genetics that are broken.  We rely on directed therapies, school programs, and the work of other doctors to help the patient as much as possible.

 

Does my insurance cover a Genetics consultation?

You will have to check with your insurance company.  Most companies do cover the office visit(s) and testing.  There may be referrals or permissions needed.  Your best bet is to talk with the referring doctor, or call the Genetics clinic and ask before the appointment.  If you have concerns about laboratory tests, just ask before the testing is done.

Prepared by Angela Scheuerle, Angela is a well known pediatrician specializing in genetics. She is well known for providing Genetic Counseling in Dallas.