The Division of Human Genetics diagnoses and and participates in the care of children and adults with inherited and sporadic genetic disorders. This includes chromosomal disorders and those caused by single genes. Evaluations are conducted by a medical geneticist and a genetic counsleor. Children and adults with problems such as (but not limited to) mental retardation, birth defects and hearing loss are seen. The Division offers prenatal consultations and coordinates the prenatal testing of chromosomal disorders and inherited disorders. The Division also provides genetic counseling and other services to help families cope with their children's birth defects. Genetic consultation and testing for susceptibility to breast and ovarian cancer, colon cancer and other familial cancers are offered. Patient treatment is conducted in close cooperation with the patient's referring physician. The Division of Human Gentics works very closely with the Department of Pathology's Clinical Cytogenetics Laboratory that conducts cytogenetic analysis of amniotic fluid, blood, bone marrow, and fibroblasts. The Division also works closely with the Antepartum Testing Unit of the Department of Obstetrics and Gynecology.
The Division of Human Genetics offers:
- Prenatal testing
- Diagnosis and treatment of inherited diseases
- Diagnosis and treatment of chromosomal disorders
- Diagnosis and treatment of birth defects
- Genetic Counseling
- Testing and counseling for breast and ovarian cancer susceptibility (BRCA1 and BRCA2)
- Testing and counseling for colon cancer
- Carrier testing
- Sickle Cell Disease
- Thalassemia
- Tay-Sachs Disease
- Cystic Fibrosis
- Canavan Disease
- Niemann Pick Disease
- Fanconi Anemia
- Familial Dysautonomia
- Bloom Syndrome
Craniofacial Center
This multidisciplinary clinic provides comprehensive care for children with facial clefts or other malformations. In addition to the Division of Human Genetics, the Departments of ENT. Dentistry, Hearing and Speech, Plastic Surgery, Oral and Maxillofacial Surgery and Social Work participate in the clinic.
Marfan Syndrome Clinic
This multidisciplinary clinic was established in 1988. Patients are evaluated by the Divisions of Human Genetics and Cardiology. Referrals to Orthopedic and Ophthalmologic services are coordinated by the genetic counselor, as needed. Patients are seen for medical follow-up and counseling at regular intervals. The Clinic provides diagnosis, management, coordination of medical care, genetic counseling and education.
Neurofibromatosis Center
This multidisciplinary center is comprosed of staff from the Divisions of Human Genetics and Pediatric Neurology. Referrals to Orthopedic and Ophthalmologic services are coordinated by the genetic counselor, as needed. The Clinic provides diagnosis, management, coordination of medical care, genetic counseling and education.
Breast and Ovarian Cancer/Colon Cancer Genetic Counseling and Testing
The Division of Human Genetics offers full genetic counseling and genetic testing services for patients with breast or ovarian cancer, colon cancer or a family history of cancer. A board-certified masters level genetic counselor who has received additional training in the genetics of breast and ovarian cancer and colon cancer works with the medical geneticist. Testing is performed by one of the laboratories approved to provide DNA-based analysis for specimens originating in New York State.
Current oncology and genetics literature stress the importance of genetic counseling. Each patient must comprehend the ramifications and limitations of testing so he/she may make truly informed decisions. A complete family history is obtained for risk assessment. Dominant inheritance, risk of transmission to offspring and probabilities of developing disease are discussed. The significance of negative and positive test results is reviewed.
