Farrell Michael H, Christopher Stephanie A, Tluczek Audrey, Kennedy-Parker Karen, La Pean Alison, Eskra Kerry, Collins Jenelle, Hoffman Gary, Panepinto Julie, Farrell Philip M
Center for Patient Care and Outcomes Research, Medical College of Wisconsin, 8701 Watertown Plank Rd, Milwaukee, WI 53226, USA.
WMJ. 2011 Oct;110(5):221-7.
Newborn screening (NBS) enables early treatment, and some consider it a natural vehicle for genetic screening. Bioethicists argue for caution since families of infants with carrier status can develop psychosocial complications. This paper describes the methods and feasibility of Wisconsin's statewide project for quality improvement of communication and psychosocial outcomes after NBS.
When NBS identifies carrier status for cystic fibrosis or sickle cell, we contact primary care providers (PCPs), answer questions, and invite them to rehearse informing the parents. Three months later, we telephone the parents, assess knowledge and psychosocial outcomes, provide counseling, and assist with self-referral to further resources. Afterward, evaluation surveys are provided to the parents, to be returned anonymously.
Birthing facilities provided accurate PCP names for 73% of 817 infants meeting inclusion criteria; we identified PCPs for 21% more. We reached 47.3% of PCPs in time to invite a rehearsal; 60% of these accepted. We successfully called 50.2% of eligible parents; 61% recalled a PCP explanation, and 48.5% evaluated the explanation favorably. Evaluations by parents with limited health literacy were less favorable.
It is feasible to follow parents for psychosocial outcomes after NBS. Preliminary data about communication is mixed, but further data will describe psychosocial outcomes and investigate outcomes' associations with communication.
新生儿筛查（NBS）有助于早期治疗，一些人认为它是基因筛查的天然载体。生物伦理学家主张谨慎行事，因为携带疾病基因婴儿的家庭可能会出现心理社会并发症。本文描述了威斯康星州全州范围内提高新生儿筛查后沟通质量和心理社会结果项目的方法和可行性。
当新生儿筛查确定婴儿患有囊性纤维化或镰状细胞病的携带状态时，我们联系初级保健提供者（PCP），回答问题，并邀请他们演练如何告知家长。三个月后，我们给家长打电话，评估他们的知识掌握情况和心理社会结果，提供咨询，并协助他们自行联系更多资源。之后，向家长提供评估调查问卷，要求他们匿名返回。
对于817名符合纳入标准的婴儿，73%的分娩机构提供了准确的初级保健提供者姓名；我们又为另外21%的婴儿找到了初级保健提供者。我们及时联系到了47.3%的初级保健提供者，邀请他们进行演练；其中60%接受了邀请。我们成功致电了50.2%符合条件的家长；61%的家长回忆起初级保健提供者的解释，48.5%的家长对该解释给予好评。健康素养有限的家长给出的评价较低。
对新生儿筛查后的家长进行心理社会结果跟踪是可行的。关于沟通的初步数据好坏参半，但更多数据将描述心理社会结果，并调查结果与沟通之间的关联。
