Talking to Your Doctor or Pediatrician About Genetic Testing Results

MGC talking to your doctor female physician
Parents with a history of genetic medical conditions in their families may want to consider genetic testing for their children. After the parents receive the results from their child's genetic test, they may want to talk to a doctor, pediatrician or genetic counselor, who can explain the test results.
 
Parents should prepare to discuss genetic screening by providing the doctor with the child's personal and family medical history. Parents should also talk to a pediatrician or doctor about the type of genetic test in question.

Understanding Genetic Screening Results

A positive test result means that a genetics lab has found a mutation in a particular gene, chromosome or protein, which may indicate an increased risk for developing a particular disease. A positive result does not mean that your child will necessarily develop the disease in question. It simply means that your child's risk for developing this disease is higher than the general population. More testing may also be needed to confirm this mutation.
 
A negative test result means that a mutation is not present in the gene, chromosome or protein under consideration. It may indicate that a person:
  • does not carry a specific gene mutation(and will therefore not pass it along to children)
  • does not have an increased risk for developing a genetic disorder
  • is not affected by a genetic disorder.
Like the positive result, a negative test result may also necessitate further testing.
 

Doctor-Patient Confidentiality

The results of genetic tests are usually kept privately in a patient's own medical records. If a parent is applying for insurance or coverage related to their child's disability or health, the insurance company may want to access the parents' medical records. Laws exist to protect individuals from discrimination due to health-related issues. However, the field of genetic research is ever-changing, and not all situations are covered. Patients should contact a lawyer if they doubt the privacy of their records.

Questions to Ask When Talking to Your Doctor

Doctors are busy people, and some of them are on call 24 hours a day. You may only have 10 to 20 minutes of talking to your doctor or pediatrician during your appointment. Prepare questions in advance before you talk to a pediatrician about your child's genetic test results.
 
If you or your spouse have a history of an inherited disease, and you want help analyzing your child's test results, ask if a positive result was determined for this disease on the genetic test. If there is a positive result, find out what you should do next. You may want to request information about the medical condition in question, or ask for a recommendation for a genetic counselor.
 
Keep several points in mind when talking to your doctor or pediatrician:
  • Be concise when talking to your doctor. Try to treat the genetics test as an indicator, and talk to your doctor about the result of the indications.

  • Continue open communication with your doctor even after receiving the results of the genetic tests. Be on the lookout for signs of any diseases you child could inherit, and talk to you doctor if symptoms arise.

  • Genetics is a complicated science. Don't be afraid to ask for clarification if you don't completely understand something.
Resources
 
Federal Trade Commission. (2006). Talk to your doctor or health care practitioner about home genetic tests. Retrieved from the Federal Trade Commission Web site: http://www.ftc.gov/opa/2006/07/fyi0650.shtm
 
Mayo Clinic. (2006). Genetic testing for genetic disorders: Weigh benefits and risks. Retrieved from the CNN Web site: http://www.cnn.com/HEALTH/library/FL/00076.html
 
McGee, A. (2008). How to talk to the doc: Communicating with your child’s pediatrician. Retrieved from the Parent Map Web site: http://www.parentmap.com/content/view/1076
 
U.S. National Library of Medicine (n.d.) What do the results of genetic tests mean? Retrieved from the Genetics Home Reference Web site: http://ghr.nlm.nih.gov/handbook/testing/interpretingresults