Yip Tiffany, Grinzaid Karen A, Bellcross Cecelia, Moore Reneé H, Page Patricia Z, Hardy Melanie W
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
Department of Public Health, Emory University, Atlanta, Georgia.
J Genet Couns. 2019 Aug;28(4):738-749. doi: 10.1002/jgc4.1108. Epub 2019 Mar 7.
JScreen is a national public health initiative based out of Emory University that provides reproductive carrier screening through an online portal and follow-up genetic counseling services. In 2014, JScreen began reporting to patients variants of uncertain significance (VUSs) in the gene that causes Tay-Sachs disease (HEXA). Genetic counseling was provided to discuss the VUS and patients were offered hexosaminidase A (HEXA) blood enzyme testing to assist with VUS reclassification. To identify patient reactions and factors influencing their follow-up testing decisions after receiving these results, we conducted a retrospective quantitative study by administering online surveys to 62 patients with HEXA VUSs. Participants who pursued enzyme testing and those who did not both experienced low levels of distress when receiving the VUS results. Perceptions of HEXA carrier status after genetic counseling, decisional conflict levels, plans to have children in the near future, time available to pursue enzyme testing, and eligibility for research were significant factors influencing decision-making to pursue or not pursue enzyme testing. Genetic counseling played an important role in helping patients understand the VUS and follow-up testing options. When discussing VUSs with patients, it would be beneficial for genetic counselors to focus on the patient's perception of the VUS, anxiety related to the uncertainty of their results, and follow-up options, when available.
JScreen是一项基于埃默里大学的全国性公共卫生倡议，通过在线平台提供生殖携带筛查及后续遗传咨询服务。2014年，JScreen开始向患者报告导致泰-萨克斯病（HEXA）的基因中意义不明确的变异（VUS）。提供遗传咨询以讨论VUS，并为患者提供己糖胺酶A（HEXA）血液酶检测，以协助VUS重新分类。为了确定患者在收到这些结果后的反应以及影响其后续检测决定的因素，我们对62名携带HEXA VUS的患者进行了在线调查，开展了一项回顾性定量研究。接受酶检测的参与者和未接受酶检测的参与者在收到VUS结果时均经历了低水平的困扰。遗传咨询后对HEXA携带状态的认知、决策冲突水平、近期生育计划、进行酶检测的可用时间以及参与研究的资格是影响是否进行酶检测决策的重要因素。遗传咨询在帮助患者理解VUS和后续检测选择方面发挥了重要作用。当与患者讨论VUS时，遗传咨询师若能关注患者对VUS的认知、与结果不确定性相关的焦虑以及可用的后续选择，将大有裨益。
