1. What Is a Medical Genetics Specialist?

A medical genetics specialist is a doctor who specializes in the diagnosis, management and prevention of genetic disorders. To become a medical genetics specialist, after graduating from medical school, a doctor completes a residency program in internal medicine, pediatrics, or obstetrics and gynecology followed by a fellowship in medical genetics and genomics.

A medical genetics specialist can provide diagnostic evaluations and therapeutic interventions for genetic disorders including DNA mutations and single gene disorders, chromosome abnormalities, epigenetic abnormalities, and mitochondrial disorders. A medical genetics specialist employs cytogenetic, molecular, and biochemical techniques for diagnosis of a genetic condition. Conditions addressed by medical genetics specialists include birth defects and congenital abnormalities, developmental delays, chromosome abnormalities (Down syndrome, Turner syndrome, DiGeorge syndrome, Klinefelter syndrome, others), single gene defects (such as achondroplasia, cystic fibrosis, Huntington disease, Duchenne muscular dystrophy, Marfan syndrome, and many others), inborn errors of metabolism (including phenylketonuria, alcaptonuria, galactosemia, Niemann-Pick disease, and others), epigenetic conditions (Prader-Willi syndrome, Angelman syndrome, and others), lysosomal storage diseases, and mitochondrial disorders. Genetic testing also helps with prenatal screening, newborn screening, predictive testing for response to treatment (pharmacogenomics and personalized medicine), carrier testing, paternal testing, forensic analysis, and preimplantation genetic diagnosis. Medical genetics specialists often work with a team of experts comprising genetic counselors, nurses, and social workers.

2. When Should I See a Medical Genetics Specialist?

Your primary care provider will usually refer you to a genetics specialist if you have symptoms suggestive of a genetic disorder. You may also be referred for prenatal or newborn screening or if your provider feels you need genetic testing for any reason. The indications for referral include:

• Family history of a genetic disorder, mental retardation, birth defects or unexplained early deaths
• Two or more miscarriages, or a baby with signs of a genetic disorder
• Pregnancy in women over 35 years of age (for a single pregnancy) or over 33 (for a twin pregnancy)
• Pregnancy from close blood relative parents
• Delayed puberty, or delayed milestones and stunted growth in children
• Positive test result in newborn screening for inborn errors of metabolism
• Positive test results in prenatal screening for genetic disorders or in carrier testing
• Abnormal fetal ultrasound finding, maternal serum testing, or nuchal translucency screening
• Exposure to a teratogen, radiation, high-risk infections, certain drugs, alcohol, or other toxic substances
• Planning a baby when one or both the partners have a family history of a genetic disease, birth defects, mental retardation, or autism

3. What Tests Does a Medical Genetics Specialist Perform or Recommend?

Your medical genetics specialist may perform or request certain tests including:

• Cytogenetic analysis, including karyotyping and fluorescence in-situ hybridization (FISH)
• Chorionic villus sampling (CVS)
• Amniocentesis
• Percutaneous umbilical blood sampling (PUBS) or cordocentesis
• DNA analysis
• Blood testing
• Imaging testing

4. What Questions Should I Ask a Medical Genetics Specialist?

You may want to ask a genetic specialist online or in person these kinds of questions:

• What is genetic screening? Why do I need them? Which disorders are tested by these screening procedures?
• Are these tests necessary even when I do not have a family history or any risk factors? What is the accuracy of these tests?
• What do the results of genetic screening mean? Do I need further tests to establish the diagnosis?
• What are my choices if my fetus tests positive for a genetic disorder?
• What does it mean if my baby tests positive in newborn screening? What treatment will may baby receive?
• How is this condition inherited? What are the chances of my next baby having this condition?
• Is there treatment available for this condition? What is the prognosis? What can be done to ameliorate the condition?
• Where can I learn more about this condition? Where do I meet other families whose children have the same type of genetic condition as my child?