Reproductive Genetics

Division of Medical Genetics

Susan D. Klugman, MD
Director
718.405.8150

Overview

The Division of Reproductive Genetics, within the Department of Obstetrics & Gynecology and Women's Health at the Albert Einstein College of Medicine, is a broad-based clinical, investigative, and educational program located within the major tertiary health care center of the northern New York City metropolitan area. With its focus on outpatient genetics services, clinical research, and laboratory analysis the Division boasts a supporting faculty having expertise in obstetrics and gynecology, pediatrics, genetic counseling, molecular biology, cytogenetics, and biochemical genetics. Division faculty have strong clinical and research interests.

Service Program 

The objective of the service program is to provide screening, counseling, diagnostic, and therapeutic prevention, research, and treatment services to all patients within the New York - New Jersey - Connecticut region. We are particularly interested in those patients and families with, or at risk for, suspected or proven genetic disorders who reside in the Bronx, Queens, upper Manhattan, and Westchester County. Our unit is a comprehensive clinical and laboratory facility serving private practice, managed care, and indigent patients. Services offered within the scope of the clinical program include a comprehensive problem-oriented medical genetics counseling service and carrier testing for a variety of genetic disorders. In addition, we offer extensive experience in prenatal diagnosis utilizing ultrasound, CVS (chorionic villus sampling - both transabdominal and transcervical), and genetic amniocentesis.

For additional information, go to:
http://www.montefiore.org/services/coe/womenshealth/genetic
http://www.montefiore.org/services/coe/womenshealth/prenataltesting 

In support of the clinical program are three additional Divisional Sections: Biochemical Genetics, Cytogenetics, and Molecular Genetics. Our faculty include two ABMG-certified Clinical Geneticists (also board certified in either pediatrics or obstetrics and gynecology), 4 ABMG-certified Genetic Counselors, and 2 PhDs who direct the laboratory sections. The full spectrum of prenatal diagnostic tests are available through our laboratory divisions, including maternal serum marker and carrier screening (AFP, hCG, UE3 and Inhibin-A), and serum and platelet assays for Tay-Sachs disease screening program.

Training Program

As a degree-granting institution we offer training in all aspects of clinical and laboratory genetics, and serve as a clinical training facility for the Sarah Lawrence College Master's Program in Genetic Counseling. We regularly have undergraduate students, medical students. We have residents, and fellows in our program, and are a recognized residency program in Medical Genetics. Our consultative services and opportunities for participation in our ongoing professional medical education activities compliment and enhance the clinical services we offer.

Investigative opportunities exist within the Division in each of the four sections and range from basic research, such as the development of molecular probes for patients at risk for genetic disorders or implementation of DNA-based evaluation for cancer predisposition, to the more clinically oriented, such as population screening for genetic disease.

Successful clinical, educational, and research programs such as the Division of Reproductive Genetics do not exist in a vacuum. Within the Department of Obstetrics & Gynecology and Women's Health are other additional strong academic and service divisions: Gynecologic Oncology, Maternal-Fetal Medicine, Female Pelvic Medicine and Reconstructive Surgery, and Reproductive Endocrinology/Infertility. Bolstered by a very active outpatient Institute, our division has been able to initiate a broad number of programs in conjunction with these other departmental organizations. We have an ongoing breast and ovarian cancer screening program with the Oncology program. We are developing a pre-implantation, embryo-based, prenatal diagnosis program with the Division of Reproductive Endocrinology/Infertility. We work closely with our colleagues in the Division of Maternal-Fetal Medicine in prenatal diagnosis, fetal ultrasound, and management. The spirit of camaraderie in providing health care of the highest quality is the hallmark of the Department of Obstetrics & Gynecology and Women's Health.

The Department of Obstetrics and Gynecology's Institute for Women's Health, Genetics, and Human Reproduction sets the pace for incorporating Reproductive Genetics services into everyday practice - from prenatal obstetric testing through innovative applications of molecular diagnostics for a broad spectrum of genetic disorders.

In providing for our patient's diverse health care needs, our physicians and scientists have made immeasurable contributions to the practice of clinical obstetrics all over the world. The clinical faculty has made seminal contributions to everyday care, such as the now routine use of maternal serum alpha-fetoprotein (MSAFP) to screen pregnancies for fetal Down syndrome risk (Merkatz, IR, Nitowsky HM, Macri, J, Johnson, WE, Am J Obstet Gynecol 148, 886,1984).

Focus on Innovation

BRCA 1 and BRCA 2 

We participate in genetic counseling-based clinical investigations of breast cancer in Jewish women, and collaborate with several other institutions in the New York area, Mary Claire King at the University of Washington, and the Human Genetics Program at Sarah Lawrence College to study the role that specific mutations in the BRCA1 and BRCA2 genes play in breast cancer in Jewish women. Specifically, we are examining the proportion of breast cancer that is attributable to the 185delAG and 5382insC mutations in BRCA1 and the 6174T mutation in BRCA2 among patients of Jewish ancestry. We want to determine what the frequency of this mutation is among cancer-free populations of Jewish women, and what the risks for developing breast and ovarian cancer are associated with these mutations. Once eligible women are identified, they will be invited for pretest counseling with Myrna Ben-Yishay, MS and/or a member of the research team. Those patients who choose to participate will provide a blood sample which will be sent to Dr. King's laboratory and screened for the three specific mutations mentioned above. For those women screening positively for the mutation, genetic counseling will be provided and extended family members will be invited to participate in the study. The results of the genetic testing will be completely confidential.

FASTER Trial

The Division of Reproductive Genetics was chosen by the National Institutes of Health as one of only 11 prenatal testing centers to participate in the first multicenter prospective trial that compares first trimester serum screening to second trimester serum screening. FASTER (First And Second Trimester Evaluation of Risk for aneuploidy) was headed by Dr. Irwin R. Merkatz and Dr. Susan J. Gross. The project coordinator was Suzanne M. Carter, MS, a genetic counselor in the division. Patients enrolled in FASTER received free 1st trimester ultrasound for nuchal translucency along with appropriate serum marker screening. Our department's participation in this large trial demonstrated our position as a pioneer in serum marker screening and innovative measures in women's health care. Some of the multiple publications resulting from this study can be seen in the list of faculty publications below.
We are enthusiastic about our department's ability to deliver the dramatic new advances in medical genetics and to participate in every aspect of genetic health care.

Please do not hesitate to contact us if you have any questions.