Lilley Margaret, Hoang Stephanie, Blumenschein Pamela, Peturson Ann-Marie, Sosova Iveta, Macneil Lauren, Ridsdale Ross, Christian Susan
Newborn Screening Laboratory, Alberta Precision Laboratories, 4B2.04 WMC, University of Alberta Hospital, 8440 112 St., Edmonton, Alberta, T6G 2H7, Canada.
University of Alberta, Edmonton, Alberta, Canada.
J Community Genet. 2021 Jan;12(1):137-142. doi: 10.1007/s12687-020-00489-x. Epub 2020 Oct 26.
This study aims to evaluate the notification process of sickle cell trait (SCT) identified by newborn screening in Alberta. On April 1, 2019, Alberta began newborn screening for sickle cell disease (SCD) and elected to report sickle cell trait (SCT). For 1 year, healthcare providers (HCPs) were sent a questionnaire which addressed the perceived importance of disclosing the SCT results, whether HCPs felt competent in disclosing the result, knowledge of available resources, and comfort with coordinating and interpreting testing for the newborn's parents. As a control, we collected data from HCPs receiving positive cystic fibrosis (CF) newborn screen results. A total of 107 out of 203 SCT questionnaires were returned and 41 of 66 CF questionnaires were returned. Respondents felt it was important that the results be shared with families (98% and 100%, respectively). Most respondents felt competent (SCT: 95%; CF: 85%), and willing to disclose the result to the family (SCT: 92%; CF: 88%). Fewer respondents were comfortable interpreting the results (SCT: 70%; CF: 51%)), and willing to arrange parental testing (SCT: 61%; CF: 59%). Family practitioners were significantly more willing to arrange SCT parental testing (88%) compared to pediatricians (40%) (OR = 5.3; CI 1.9, 15.4; p < 0.001). HCP comments revealed two themes: referral to another HCP for follow-up and identification of the primary HCP. Results support this disclosure process, and HCPs felt comfortable following up with SCT newborn screen results. The study identified challenges such as pediatricians being less comfortable ordering parental testing and the ordering HCP not always being the primary care provider.
本研究旨在评估艾伯塔省新生儿筛查所发现的镰状细胞性状（SCT）的告知流程。2019年4月1日，艾伯塔省开始对镰状细胞病（SCD）进行新生儿筛查，并选择报告镰状细胞性状（SCT）。在一年时间里，向医疗服务提供者（HCPs）发放了一份问卷，内容涉及披露SCT结果的感知重要性、HCPs是否觉得自己有能力披露结果、对可用资源的了解，以及在为新生儿父母协调和解读检测方面的舒适度。作为对照，我们收集了收到囊性纤维化（CF）新生儿筛查阳性结果的HCPs的数据。203份SCT问卷共收回107份，66份CF问卷共收回41份。受访者认为与家庭分享结果很重要（分别为98%和100%）。大多数受访者觉得自己有能力（SCT：95%；CF：85%），并愿意向家庭披露结果（SCT：92%；CF：88%）。较少受访者对解读结果感到自在（SCT：70%；CF：51%），且愿意安排父母检测（SCT：61%；CF：59%）。与儿科医生（40%）相比，家庭医生安排SCT父母检测的意愿显著更高（88%）（比值比=5.3；置信区间1.9, 15.4；p<0.001）。HCPs的评论揭示了两个主题：转诊给另一位HCP进行后续跟进以及确定初级HCP。结果支持这一披露流程，HCPs对跟进SCT新生儿筛查结果感到自在。该研究发现了一些挑战，比如儿科医生对安排父母检测不太自在，以及开具检测单的HCP不一定是初级保健提供者。
