Medical Professionals

Physicians and Other Medical Professionals

Medical professionals, especially OB/GYNs, midwives and pediatricians, can play a vital role in promoting timely and accurate carrier screening for individuals. Now that many labs are offering expanded carrier screening that is not ethnic-specific, the JGDC urges medical professionals to recommend carrier screening for all patients of childbearing age.

JGDC Grand Rounds Programs

The JGDC’s “Grand Rounds Program” is presented at hospitals throughout the country. For a detailed description of this program, please access our PDF document. For a list of hospitals where JGDC has already presented, please access our PDF document. If you would like this program presented at your hospital, please contact the JGDC by email at info@JewishGeneticDiseases.org or phone at 855-642-6900.

Resources for Physicians

Expanded Carrier Screening in Reproductive Medicine—Points to Consider
A Joint Statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine
Janice G. Edwards, MS, Gerald Feldman, MD, PhD, James Goldberg, MD, Anthony R. Gregg, MD, Mary E. Norton, MD, Nancy C. Rose, MD, Adele Schneider, MD, Katie Stoll, MS, Ronald Wapner, MD, and Michael S. Watson, MD

American College of Medical Genetics and Genomics: An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals American College of Medical Genetics and Genomics
Gabriel A. Lazarin, MS, Imran S. Haque, PhD, Shivani Nazareth, MS, Kevin Iori, BS, A. Scott Patterson, MA, Jessica L. Jacobson, MD1, John R. Marshall, MD, William K. Seltzer, PhD, FACMG, Pasquale Patrizio, MD, Eric A. Evans, PhD and Balaji S. Srinivasan, PhD

Literature Review of Preconception Expanded Carrier Screening
by Shivani Nazareth, CGC
Director, Medical Affairs, Counsyl

How rare sheep from biblical times may help kids with a deadly genetic disease
The Washington Post, Health and Science, May 23, 2016
by Eric Valance

Genetic Testing Before Pregnancy Should Be as Common as Taking Folic Acid
Very few pre-pregnancy checklists include carrier screening as an important health item. 
by Shivani Nazareth, CGC
Director, Medical Affairs, Counsyl
Contributor, U.S. News and World Report, July 28, 2016