The Division of Clinical Genetics provides clinical evaluation and risk assessment, genetic counseling and genetic testing for a variety of genetic conditions. We also provide ongoing care for patients with genetic conditions, coordinate multidisciplinary care for patients, and help patients access resources related to their condition. When appropriate, we identify research studies for which patients may qualify to understand their condition better or provide additional therapeutic options. For patients planning their families, we provide reproductive options for having healthy children. We have specialized programs in several areas.
Under the leadership provided by the clinical genetics faculty and investigators the division serves as the core laboratory for the Pediatric Heart Network and the Pediatric Neuromuscular Clinical Research Network. With respect to the former goals include the identification of genetic factors modulating disease severity associated with congenital heart disease. In addition the group is characterizing the frequency and types of mutations associated with cardiomyopathy, arrhythmias, and pulmonary hypertension and genes that modify their penetrance. The goal of the neuromuscular project is to establish a clinical research network that clinically and molecularly characterizes patients with spinal muscular atrophy and establishes biomarkers to monitor clinical efficacy in preparation for SMA clinical trials.
Clinical Genetics extends beyond its traditional concern with dysmorphic/"syndromic" phenotypes and highly penetrant monogenic disorders, to the analysis of genetically more complex disorders such as metabolic diseases (diabetes, obesity, dyslipidemias), inflammatory bowel disease, autoimmune disorders, developmental disorders of heart, brain, etc, susceptibility and response to infection (e.g. HIV), osteoporosis, degenerative nervous system disease, and cancer susceptibility. Molecular diagnostic techniques and clinical interventions are expanding exponentially as specific genes are implicated in specific phenotypes related to human disease.
All individuals making contact with the medical system will, in the near future, benefit from genetic insights related to diagnosis, treatments, and response to treatment. This is because virtually all human disease is the result of genetic and environmental interactions whose nature will become much clearer as the relevant genes are identified. Accordingly, medical school and hospital activities in Human Genetics are being greatly expanded. This expansion includes a major restructuring of the medical school curriculum, and an extensive, ongoing educational program for house staff, fellows (in both clinical and basic science), and faculty. Because of its clinical responsibility for prenatal/pediatric diagnostics in genetics, for children with chromosomal aneuploidies (Down syndrome, Turner syndrome, etc), and early onset monogenetic disorders (cystic fibrosis, sickle cell disease, phenylketonuria), Pediatrics is the core of the residency in Human Genetics. However, while Pediatrics is a focal point for activities in clinical and diagnostic genetics, these resources are widely available to all clinical and research venues in the institution, and genetics services are expanding to other areas of internal medicine and neurology.