Genetics

Geneticists at Children’s specialize in the evaluation of patients who may have health problems or diseases that are genetic in nature. Geneticists work with other specialists to address the complex issues surrounding the diagnosis, management and genetic counseling of these patients.

Physicians from many specialties care for patients with genetic diseases. As we learn more about these complex disorders, specialists such as ophthalmologists, neurologists, endocrinologists, craniofacial surgeons, cardiologists and rheumatologists are increasingly considering genetic diseases in their diagnosis.

Most patients are initially evaluated in one of the general genetics clinics. If diagnosed with a specific disorder, the patient may then receive services in a multidisciplinary clinic such as metabolic clinic, neurofibromatosis clinic, Down syndrome clinic, fragile X clinic or lysosomal storage disease clinic.