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What do geneticists and genetic counselors do?

The genetics team at McLane Children’s Scott & White helps identify and treat children who have disorders caused by an alteration or “mutation” in a gene or a chromosome abnormality.

A pediatric medical geneticist is a physician who specializes in the evaluation and diagnosis of genetic conditions. The medical geneticist can help determine if there is a genetic basis for the health conditions that affect your child and help to coordinate diagnostic testing and care for the family.

Our PhD medical geneticists are also healthcare professionals who specialize in clinical genetics. They are trained in the diagnosis and care of individuals with genetic conditions. Genetic counselors are master’s-level trained healthcare professionals educated in counseling patients and their families about genetic health risks.

What can I expect from a visit to the Genetics Clinic?

Many referrals to our Genetics Clinic are for babies who are born with physical birth defects or children who have developmental delay and/or unusual physical features.

Alternately, there may be a known or suspected genetic condition in the child or in the family. Our geneticists use family history, physical examination, and laboratory tests (for example, chromosome analysis or DNA studies) to provide a comprehensive genetic evaluation for the child with a known or suspected genetic condition.

The genetics team strives to answer three questions during the evaluation:

  1. What is the diagnosis? Giving a name to the condition leads to better understanding of what a child’s needs are and what to expect in the future. Clear communication to parents about the diagnosis and the genetic cause of a particular genetic disorder is essential.
  2. What is the prognosis? Making an accurate diagnosis of a genetic condition often leads to information about the prognosis (what is going to happen in the future) for an affected child. The geneticist will discuss treatment options and interventions that are available for particular genetic conditions. A child with a genetic disorder may need to see several different medical specialists at McLane Children’s Scott & White. Our genetics team will help to coordinate care with multiple health services across the Scott & White system.
  3. What does this mean for the family? A “recurrence risk” simply means the risk (or odds) that a subsequent child or other members of the family will be affected with a genetic condition. The genetics team helps families affected by a genetic diagnosis, because genetic conditions not only concern the affected child but also may have implications for the entire family. A family-based approach to the genetic evaluation is important.

Some of the reasons a child might see a geneticist include a family history of genetic conditions, physical birth defects, autism, or developmental delays. We also offer preconception and prenatal counseling for genetic concerns.

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