Genetics and Genomic Medicine
The Department of Medical Genetics and Genomic Medicine at Saint Peter’s University Hospital
There are approximately 7,000 rare diseases affecting 30 million Americans, 50% of whom are children. Diagnosis is commonly delayed in rare disease patients, if it is ever made at all, resulting in unnecessary testing, missed opportunities to avoid or decrease sometimes life-threatening medical complications, failure to provide cutting-edge therapeutic options, and diminished quality of life. Rare diseases are life-long and at least 80% are known to have a genetic basis. Genetic variability not only determines the presence of rare diseases, but holds important clues to common disorders as well.
Saint Peter’s University Hospital has provided comprehensive clinical genetic services since 1992, during which time ~34,000 individual patients were seen and over 47,000 patient visits logged. In the last 15 years alone, patients were referred for evaluation, diagnosis, management, treatment, counseling, and emotional support for over 2,000 different conditions.
Newborn screening and general genetic services at Saint Peter’s are funded in part by Special Child Health and Early Intervention Services, New Jersey Department of Health. As a state-designated regional center, the Department of Medical Genetics and Genomic Medicine provides in-patient and out-patient services to patients of all ages with a variety of genetically-influenced conditions including abnormal newborn screens, confirmed inborn errors of metabolism, birth defects, chromosome abnormalities, hearing impairment, craniofacial and genetic bone disorders, autism spectrum, cancer, and diseases of the heart, lungs, kidneys, brain, skin, muscles, eyes, gastrointestinal and genitourinary tracts. Our department houses one of the largest comprehensive Lysosomal Disease Therapy Centers in the United States, trials orphan drugs, and provides a broad range of pre-conceptional, prenatal, and postnatal genetic counseling as well as pregnancy-specific management and treatment of maternal metabolic, lysosomal, and genetic conditions.