Genetics & Inherited Disorders

ColumbiaDoctors' world-class clinical genetic specialists provide clinical evaluation, risk assessment, genetic counseling, and genetic testing for a variety of genetic conditions. For patients with genetic conditions, we provide ongoing, multidisciplinary care, along with access to a wide range of resources which can include research trials and additional therapeutic options.

ColumbiaDoctors is a leading research and clinical center in precision medicine, a new paradigm in medicine where treatment is personalized for individual patients, often based on genetic testing and analysis. To help patients understand their conditions better or to provide additional therapeutic options, when appropriate, our genetic specialists identify research studies for which patients may qualify. For patients planning for their families, we provide reproductive options for having healthy children. 

Our expertise in genetic disorders extends beyond diseases that are traditionally understood as single-gene or syndromic conditions to genetically more complex disorders, such as metabolic diseases (e.g., diabetes, obesity, dyslipidemias), inflammatory bowel disease, autoimmune disorders, susceptibility and response to infection (e.g., HIV), osteoporosis, degenerative nervous system disease, cancer susceptibility, and developmental disorders of the heart and brain. We also are on the cutting-edge in cancer genetics, offering patients access to the latest breakthroughs in our understanding of cancer. 

Molecular diagnostic techniques and treatment options are growing exponentially as more and more associations between genes and human disease are identified. Our patients have access to the latest evidence-based genetic diagnostics and therapies, as well as major research trials only available at a significant research center such as ours. 

Our Areas of Focus

Maternal-Fetal Medicine (MFM)

MFM specialists work with nurses and genetic counselors to manage high-risk pregnancies for women with serious medical conditions or critical care issues, or whose pregnancies are complicated by fetal structural, functional, or genetic abnormalities. We have particular expertise in managing multiple pregnancies, from identical twin gestations, complicated by malformations, to discordant growth and twin-twin transfusion syndrome. We provide comprehensive, quality services for both mother and baby no matter if a patient needs routine screening tests or the most advanced diagnosis and management of high-risk pregnancies. We offer specialized expertise in ultrasound imaging and the most current prenatal diagnostic procedures for advanced fetal assessment.

The Diagnosis Initiative: Seeking Care and Opportunities with Vision for Exploration and Research (DISCOVER) 

In this program, our physicians help patients with rare diseases and complex conditions get access to excellent clinical care, integrated with cutting-edge research, to obtain a diagnosis more quickly and receive novel, individualized treatment. The DISCOVER Program is the only such center of its kind in New York State.

Program for Inherited Metabolic Disorders

In this program, a board-certified biochemical geneticist and board-certified clinical geneticist work with a specialized metabolic dietitian, and a nurse practitioner trained in inherited metabolic disorders to provide diagnostic, management, and counseling services to the patient and his/her family. Newborn babies with positive newborn screening test results for inherited metabolic disorders are referred to our center for additional testing and clinical follow-up, as well as management if the diagnosis of a metabolic disorder is confirmed. We care for children with amino acid disorders (including phenylketonuria and tyrosinemia), organic acidemias, glycogen storage diseases, fatty acid oxidation disorders, mitochondrial disorders, biotinidase deficiency, lysosomal storage disorders, peroxisomal biogenesis disorders, and neurotransmitter deficiencies.

Columbia University Medical Center, with the support of ColumbiaDoctors physician-scientists, is a constant innovator in understanding the role genetics plays in disease and the discovery of new treatment options for genetic disorders.