Department of Genetics, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Braun School of Public Health and Community Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Prenat Diagn. 2021 Aug;41(9):1066-1073. doi: 10.1002/pd.6010. Epub 2021 Jul 19.
Israel is one of the first countries to incorporate chromosomal microarray analysis into routine prenatal care. We explored attitudes of Israeli healthcare professionals (HCPs) towards the disclosure of challenging findings: variants of uncertain clinical significance (VUS), susceptibility loci (SL) for neurodevelopmental disorders and variants associated with adult-onset (AO) conditions. Particularly, we sought their views on providing parental choice regarding the disclosure of these findings.
Twenty-nine in-depth interviews were conducted with genetic counselors (n = 19), medical geneticists (n = 4), medical geneticists that are trained in and practice fetal medicine (n = 3), and fetal medicine experts (n = 3).
Most participants (n = 24) supported parental choice regarding uncertain genetic information. Engaging parents in disclosure decisions allows avoidance from potentially anxiety-provoking information, practicing parental autonomy, and better preparation in cases where uncertain findings are identified. HCPs believed that given appropriate preparation, parents can make informed decisions. Four participants believed that disclosure should be based on professional judgment and one supported full-disclosure. Unlike VUS or SL, all interviewees agreed that in cases of medically actionable AO conditions, the benefit of disclosure outweighs the damage.
HCPs attitudes are largely in-line with the Israeli practice of involving parents in disclosure decisions regarding uncertain information. This may mitigate disclosure dilemmas and allow personalized disclosure based on parents' views.
以色列是最早将染色体微阵列分析纳入常规产前保健的国家之一。我们探讨了以色列医疗保健专业人员（HCP）对揭示具有挑战性的发现的态度：意义不明的变异体（VUS）、神经发育障碍的易感性基因座（SL）和与成人发病（AO）相关的变异体。特别是，我们寻求他们对提供这些发现的父母选择的看法。
对 29 名遗传咨询师（n=19）、医学遗传学家（n=4）、接受并从事胎儿医学培训的医学遗传学家（n=3）和胎儿医学专家（n=3）进行了 29 次深入访谈。
大多数参与者（n=24）支持对不确定的遗传信息进行父母选择。让父母参与披露决策可以避免潜在的焦虑信息，实践父母自主权，并在确定不确定发现时更好地准备。HCP 认为，只要给予适当的准备，父母就可以做出明智的决策。有 4 名参与者认为披露应基于专业判断，1 名参与者支持全面披露。与 VUS 或 SL 不同，所有受访者都认为，在具有医学可操作性的 AO 情况下，披露的益处大于损害。
HCP 的态度与以色列的做法基本一致，即让父母参与有关不确定信息的披露决策。这可能会减轻披露困境，并根据父母的观点进行个性化披露。
