Division of Genetics and Genomics

If you or your child has a known or possible genetic disorder, or if you are an expectant parent with a genetic disorder in the family, Boston Children’s is here to help. Founded in 1965, our Division of Genetics and Genomics provides diagnostic services, genetic counseling, and individualized care for people of all ages. 

Solving genetic mysteries, in the NICU and beyond

 

Mila, who suffers from Batten Disease, at home with her family.

As one of the largest pediatric genetics practices in the country, we have experience with both common conditions and very rare conditions affecting just a few hundred children in the world. We specialize in finding answers for complex and hard-to-diagnose genetic conditions, sometimes applying new technologies through our research labs when existing genetic tests are negative or inconclusive. 

Our large program includes 20 board-certified clinical geneticists, nine genetic counselors, three dieticians, and a nurse practitioner and nursing staff. In addition to the main hospital in Boston, we see patients at our Brockton, Lexington, Norwood, Peabody, Waltham, and Weymouth locations.  

We also work closely with the Maternal Fetal Care Center (MFCC), which supports the needs of expectant families whose unborn babies have confirmed or suspected congenital anomalies.

Genetics services we provide

Diagnostic services and testing

We offer a variety of genetic tests, including tests for single or multiple genes, chromosomal studies, and whole-exome sequencing, which looks at all the genes in a person’s DNA that code for proteins. 

At the first visit, a board-certified clinical geneticist will:

  • physically examine you or your child, looking for features that may give clues to a genetic diagnosis
  • ask questions about personal and family medical history
  • recommend other tests, such as imaging tests or blood tests, that may be helpful in guiding genetic testing.

Genetic counseling

Working closely with the geneticist, the genetic counselor’s job is to help families understand the tests that are recommended, the implications of genetic testing, and what to expect from each test. Once a diagnosis is made, the genetic counselor will:

  • interpret the test results and what they mean
  • advise about what medical services may be needed now, and what problems may arise in the future
  • provide counseling for parents who are planning to have more children, and for extended family members about whether they should also consider being tested.