Genetic Counseling

Stony Brook Medicine was the first hospital in Suffolk County to offer genetic counseling — a professional assessment of an individual’s risk factors regarding a family history or pregnancy. Today, 20 years later, we remain both the busiest genetics group in Suffolk County and at the forefront of innovation, not only providing state-of-the-art screening and testing, but also emotional support, education and non-directed counseling on patient choices.

Testing and Services

We provide a full range of prenatal screenings for a variety of genetic and inherited disorders, some of which include cystic fibrosis, Tay-Sachs disease, spina bifida, fragile X. Testing may be recommended if one of the parents or a close relative has an inherited illness, a parent is a known carrier for a genetic disease, a parent already has a child with severe birth defect, the woman has a history of miscarriage, a standard antenatal screening shows an abnormal or inconclusive result, or the mother is over age 35, which puts her in a higher risk category.

In addition, we provide a full complete genetic evaluation for children, encompassing learning disorders, autism an inherited disorders, as well as the New York State-designated center for Suffolk County/Long Island for newborn screenings.

The majority of tests are non-invasive and range from a simple blood test to ultrasound, amniocentesis and chorionic villi sampling. Stony Brook stays on the forefront of the field and as new testing and technology gets approved, we make that available to our patients if individually appropriate.

The Team

The team consists of four genetic counselors and two clinical geneticists who work closely with the maternal-fetal medicine physicians specializing in high-risk pregnancies. The counselors hold a masters degree in genetic counseling and are board certified by the American Board of Genetic Counseling. The physicians are fellowship trained in Clinical Genetics and board certified by the American Board of Medical Genetics.

The Process

Typically, patients are referred to genetic counseling when they have risk factors or if routine testing identifies a result that needs additional investigation. If there are known risk factors, you may want to seek genetic counseling before deciding to pursue pregnancy.

The genetic counseling team coordinates additional screening and works closely with the patients, families and referring physicians to understand the results and what they mean. In the majority of cases, additional testing rules out a problem. However, if the test indicates the presence of an inherited disorder (either before or during pregnancy), a counselor will help put the results in perspective by providing information and education to help patients make the appropriate choice for them. We refer to this as non-directed counseling. This means that we do not recommend one choice or another; our job is to provide information and support so patients can follow a course aligned with their lives and their value systems.  

The Facility

Although screening and counseling are performed in a freestanding building with a comfortable, soothing environment, patients have full access to all the resources of Stony Brook Medicine if needed. We emphasize continuity of care, and patients can easily move through each of the areas that support them — for example, obstetrics/gynecology, maternal/fetal medicine, the neonatal intensive care unit, and outpatient services and support — without having to repeat their story or face duplication (or gaps) in services.