Genetics

From Discovery to Diagnosis to Care

Learning that you or your child has a genetic disorder or an increased risk of a disease due to genetics can be a cause for concern. The clinical genetics specialists at NewYork-Presbyterian Hospital have exceptional expertise in evaluating your family's risk. We provide compassionate genetic counseling, comprehensive testing, and ongoing care for a variety of genetic conditions in people of all ages. We help facilitate evaluations and clinical care with other specialists and connect you with resources to help you understand and manage the condition. Our exceptional care includes:

• A Team Approach: The care of a genetic disorder begins with an accurate diagnosis. Your team includes physicians with dedicated training in clinical genetics and genetic counselors to help you understand your risk. At NewYork-Presbyterian, you also have access to any other specialist or subspecialist you may need, such as experts in growth delays, cancer, heart defects, nervous system disorders, and other diseases with a genetic cause. Your team members collaborate to provide the very best care, customized just for you or your child.
• Specialized Programs: We offer specialized programs in a variety of areas, such as cancer (including breast, ovarian, colon, and pancreatic cancers), heart disease, birth defects, craniofacial abnormalities, problems with growth, autism, developmental delays, seizures, metabolic disorders, chromosome disorders (including chromosome deletions and duplications), spinal muscular atrophy, rare disorders, and undiagnosed disorders. We coordinate ongoing care for people with genetic conditions and help them access specialized programs and resources related to their condition.
• Help for Families with Undiagnosed Disorders: Through the DISCOVER Program at NewYork-Presbyterian/Morgan Stanley Children's Hospital, we offer services for patients and families with significant medical conditions who seek a diagnosis. Our goal is to integrate excellent patient care with cutting-edge research to make a diagnosis more quickly and to develop novel, personalized treatments. The DISCOVER Program is the only such center of its kind in New York State.
• Care from Conception to Birth, and Beyond: If you are planning a family, our experts provide options to improve your chance of having healthy children in the future. Our team helps you understand the risks, causes, and inheritance of genetic disorders. We also provide education about available options, including prenatal testing and (when possible) preimplantation genetic diagnosis. If you are pregnant, we provide testing and counseling for Down syndrome, common genetic conditions (such as sickle cell disease, Tay Sachs disease, cystic fibrosis, spinal muscular atrophy, and Fragile X), and complex fetal chromosomal abnormalities. We also coordinate prenatal pediatric care for fetuses with birth defects or known genetic conditions.
• Leaders in Genetics Research: As an academic medical center, our staff conducts research to better understand and treat genetic conditions. You or your child may have the opportunity to participate in research studies to improve care and clinical trials of innovative therapies. Our laboratory scientists are also hard at work analyzing the genetic basis for a number of diseases and disorders, including heart disease, diabetes, obesity, low blood sugar, congenital diaphragmatic hernia, cleft lip/cleft palate, seizures, mental retardation, inherited metabolic conditions, and breast and pancreatic cancers.