1. Department of Genetics and Genomic Sciences
doctor taking care of patient

Patient Care

DEPARTMENTS AND OFFICES

The Division of Medical Genetics and Genomics provides comprehensive evaluation, diagnosis, treatment, and counseling for patients with known or suspected genetic and genomic conditions, from the newborn period through adulthood. Our multidisciplinary teams include medical geneticists, genetic counselors, nurse practitioners, nutritionists, social workers, and specialists from across the Mount Sinai Health System.

Care is tailored to the needs of each patient and family. Depending on the clinical concern, an evaluation may include a detailed personal and family history, physical assessment, genetic or biochemical testing, and consultation with other specialists. Our teams help patients and families understand test results and their implications, develop individualized treatment and surveillance plans, and provide counseling about prognosis, inheritance, and the potential health implications for other family members.

Our clinical programs address a broad spectrum of needs, including newborn screening, pediatric and adult genetic conditions, inherited metabolic and mitochondrial disorders, lysosomal storage diseases, congenital disorders of glycosylation, cardiovascular genetics, hereditary cancer risk, reproductive genetics, Down syndrome, Fragile X-associated conditions, porphyrias, and congenital anomalies. Specialized services also include rapid genome sequencing, outpatient infusion therapy, and coordinated care for children with inherited metabolic diseases who may require liver transplantation.

Mount Sinai is recognized as a National Organization for Rare Disorders (NORD) Rare Disease Center of Excellence, reflecting our expertise in diagnosing and treating rare conditions and our commitment to coordinated, multidisciplinary care.

The Division’s clinical teams work closely with researchers in the Department of Genetics and Genomic Sciences to improve genetic diagnosis, expand access to approved therapies, and evaluate new approaches to treatment. Patients and families may also have opportunities to participate in clinical research and trials for which they are eligible.

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Patient Programs, Clinics, and Centers

Adult Genetic Program

Helping patients with genetic conditions understand their risk.

Cancer Genetic Counseling Program

Helping you understand your family history of cancer and the likelihood of hereditary cancer susceptibility.

Cardiovascular Genetics Program

Evaluating and counseling patients and families with genetic-based cardiovascular diseases.

Cleft and Craniofacial Program

A resource for children and adults with abnormalities of the head, neck, and limbs.

Clinical Genetic Disorders Program

Specializing in the care people with known or suspected genetic conditions.

Congenital Disorders of Glycolysation Program

Combining basic, translational, and clinical research to improve outcomes for patients with CDG.

Down Syndrome Program

Preventing and treating the medical, developmental, and psychosocial challenges of Down Syndrome.

Fragile X Spectrum Disorder Clinic

Comprehensive medical evaluations and treatments to patients and families affected by Fragile X Syndrome.

Genetics Infusion Program

Outpatient infusion suite for patients to receive infusion therapy.

High-Risk Cancer Surveillance Program

Supporting patients with a high risk of cancer.

Inherited Metabolic Diseases Program

Providing services for the treatment of children and adults affected by inborn errors of metabolism.

Lysosomal Storage Disease Program

Management and treatment of pediatric and adult patients with lysosomal storage diseases.

Mitochondrial Medicine Program

Disease evaluation, counseling, and management for patients with mitochondrial disorders.

Pediatric Liver Metabolic Transplant Program

Treating pediatric patients with inherited disorders of metabolism.

Porphyria Comprehensive Diagnostic and Treatment Center

Clinical and diagnostic services for children and adults with acute or cutaneous porphyria.

Reproductive Genetic Counseling Program

Evaluating the health of women trying to get pregnant, pregnant women, and their fetuses.

RNUopathies Program

Providing multidisciplinary care and advancing research for people with ReNU syndrome and related RNUopathies.

Resources For You

Genetics and Genomics Patient Care
Medical Genetics Training Programs
PhD in Biomedical Sciences
Master of Science in Genetic Counseling