Creation of a National, At-home Model for Ashkenazi Jewish Carrier Screening
Creation of a National, At-home Model for Ashkenazi Jewish Carrier Screening
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DOI：
10.1007/s10897-014-9800-x
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发表时间：
2015-06-01
影响因子：
1.9
通讯作者：
Ginsberg, Jessica
中科院分区：
文献类型：
--
作者：
Grinzaid, Karen Arnovitz;Page, Patricia Zartman;Ginsberg, Jessica
自20世纪70年代初以来，基于种族的德系犹太人携带者筛查一直是可用的，并受到倡导和社区团体的鼓励。美国医学遗传学学院和美国妇产科医生大会都建议对这一群体进行携带者筛查(妇产科，114(4)，950-953,2009；遗传学，10(1)，55-56,2008)。虽然许多医生询问种族背景并提供适当的携带者筛查，但研究表明，在执行建议方面仍然存在差距(基因测试和分子生物标记，2011年)。此外，针对犹太社区的教育和外联努力在接触到这一高危人群方面收效甚微。尽管医疗和犹太社区做出了努力，但许多育龄犹太人并没有意识到筛查，而且仍然面临着生下患有可预防疾病的孩子的风险。接触到这一人群，最好是怀孕前，并为获得筛查提供便利是至关重要的。为了满足这一需求，埃默里大学的遗传顾问开发了JScreen，这是一项全国性的犹太遗传病筛查计划。该计划包括全国性的营销和公关活动、在线教育、基于唾液的居家筛查、通过电话或安全视频会议进行的检测后遗传咨询，以及根据需要进行面对面遗传咨询的转介。我们的目标是为这一人群创建一个成功的教育和筛查计划，并开发一种可能用于其他高危人群的模式。
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.