Genes and chromosomes are responsible for passing on many defining family traits from one generation to the next. But they can also pass on some unwanted ones too – such as certain abnormalities and illnesses, or an increased risk for certain illnesses.
It’s the job of medical geneticists – pediatricians with special training in genetics – to not only diagnose and manage such hereditary conditions, but also to offer families the medical support they need when faced with a genetic problem.
When Might a Child Need to See a Geneticist?
A child may be referred to a geneticist if he or she has a birth defect or physical malformation; problems with growth and development; known or suspected metabolic disease; significant learning and behavior problems; a family history of a genetic condition (such as muscular dystrophy or cystic fibrosis); or a medical problem whose cause is unknown.
A family might also choose to see a geneticist as part of a pre-adoption evaluation for a domestic or international adoption.
What to Expect at a Visit
A family whose child has been referred to a Nemours geneticist will receive a call from one of our genetic counselors prior to the visit. These professionals work closely with the medical geneticists, gathering information about your family history and your child’s medical history.
During the visit, the geneticist will review the information you provided as well as ask additional questions about your child’s health and development. He or she will also perform a thorough physical exam and often order X-rays, other imaging studies (such as a CT scan or MRI), and blood work. In many cases, more specialized laboratory tests may also be necessary, such as chromosome analysis, metabolic studies, and molecular DNA testing.
Because many of these tests must be performed in special labs, it can take a while to get the results. The genetic counselor, working with the geneticist, will keep you informed of the results. Sometimes studies need to be performed on the parents as well, in order to compare them with the child’s results.
In the case of prospective adoption, the genetics specialists will review the report of the medical history and examination that has been provided, including photos or videos of the child to be adopted, and any X-ray or laboratory test results available.
After Your Visit
If a condition is identified after a diagnostic evaluation, our staff will begin the process of educating and counseling families about the condition, its cause, prognosis (outlook), treatment, and risk of recurrence.
We may also consult with other pediatric subspecialties, such as Neurology, Ophthalmology, Endocrinology, Metabolism, or Orthopedics, to create a management plan based on the child’s needs. Genetic counseling is also available to help families assess their risk of passing on the condition in the future and to make family planning decisions.