Creation of a National, At‐home Model for Ashkenazi Jewish Carrier Screening

Abstract

Ethnicity-based carrier screening for the Ashkenazi Jewish population has been available and encouraged by advocacy and community groups since the early 1970's. Both the American College of Medical Genetics and the American Congress of Obstetricians and Gynecologists recommend carrier screening for this population (Obstetrics and Gynecology, 114(4), 950-953, 2009; Genetics in Medicine, 10(1), 55-56, 2008). While many physicians inquire about ethnic background and offer appropriate carrier screening, studies show that a gap remains in implementing recommendations (Genetic testing and molecular biomarkers, 2011). In addition, education and outreach efforts targeting Jewish communities have had limited success in reaching this at-risk population. Despite efforts by the medical and Jewish communities, many Jews of reproductive age are not aware of screening, and remain at risk for having children with preventable diseases. Reaching this population, preferably pre-conception, and facilitating access to screening is critically important. To address this need, genetic counselors at Emory University developed JScreen, a national Jewish genetic disease screening program. The program includes a national marketing and PR campaign, online education, at-home saliva-based screening, post-test genetic counseling via telephone or secure video conferencing, and referrals for face-to-face genetic counseling as needed. Our goals are to create a successful education and screening program for this population and to develop a model that could potentially be used for other at-risk populations.

Implementation of a Carrier Screening Program in a High-Risk Undergraduate Student Population Using Digital Marketing, Online Education, and Telehealth

“…JScreen provides pre-test education via an engaging, animated 3-min video (https://www.youtube.com/watch?v=gcvWiznuOmg&feature=youtu.be) that explains important concepts such as recessive inheritance, availability of reproductive options for at-risk individuals and couples, and limitations of carrier testing [11]. In addition, the JScreen website (https://jscreen.org/learn-more/diseases/) describes certain diseases on the screening panel that are more common in the Jewish population, and the JScreen staff provides additional information about testing and conditions on the panel upon request.…”

“…Once the participant’s sample arrives at the laboratory, JScreen emails a knowledge quiz to the participant. This quiz includes five multiple-choice questions that assess understanding of important information about carrier screening [11]. …”

“…These benefits have been recognized by the JScreen model [15] where the genetic counseling schedule also allows for evening and weekend appointments to maximize convenience. When appropriate, referrals are made for in-person genetic counseling or other follow-up in the participant’s geographic area [11]. …”

“…To assess pre-education knowledge, participants were asked to complete a 7-question knowledge quiz early in the kit registration process. This quiz included the 5 questions on the standard JScreen post-screening knowledge quiz [11] as well as 2 questions related to symptoms and treatment of Gaucher disease (Fig. 1).…”

Patients' reactions and follow‐up testing decisions related to Tay‐Sachs (HEXA) variants of uncertain significance results

“…JScreen, a national, non‐profit public health initiative based out of Emory University School of Medicine's Department of Human Genetics, allows people to register for carrier screening through an online portal and offers saliva‐based testing (Grinzaid, Page, Denton, & Ginsberg, ). Although JScreen is marketed toward individuals of Ashkenazi Jewish ancestry, its carrier screening panel is pan‐ethnic and is available to patients of any ethnicity.…”