Most of the disorders on the newborn screening panel are genetic. If a newborn is diagnosed with one of the disorders on the panel, the parents or other family members may decide to meet with a genetic counselor. Genetic counselors are graduate-level trained professionals who specialize in medical genetics and counseling.
Genetic counselors provide information for families to help them understand their child’s diagnosis and make informed medical decisions. Genetic counselors also provide support to families impacted by a genetic disorder. During a genetic counseling session, the genetic counselor will review the newborn’s medical history and family history, provide information about the disorder, review the inheritance pattern of the disorder and coordinate additional genetic testing. Counselors may also provide guidance on prenatal testing should the parents seek this option in a future pregnancy.
Many of the NYS Newborn Screening Specialty Care Centers have a genetic counselor on staff and all of the Specialty Care Centers can refer families to a genetic counselor. If you have any questions about genetic counseling at NYS Newborn Screening Specialty Care Centers, you can contact the Specialty Care Center directly. For more information about genetic counseling, please visit the National Society of Genetic Counselors and the American Board of Genetic Counseling.