Department of Health Policy, Management and Evaluation, University of Toronto, Ontario, Canada.
J Med Ethics. 2009 Oct;35(10):626-34. doi: 10.1136/jme.2009.030346.
Expanded newborn screening generates incidental results, notably carrier results. Yet newborn screening programmes typically restrict parental choice regarding receipt of this non-health serving genetic information. Healthcare providers play a key role in educating families or caring for screened infants and have strong beliefs about the management of incidental results.
To inform policy on disclosure of infant sickle cell disorder (SCD) carrier results, a mixed-methods study of healthcare providers was conducted in Ontario, Canada, to understand attitudes regarding result management using a cross-sectional survey (N = 1615) and semistructured interviews (N = 42).
Agreement to reasons favouring disclosure of SCD carrier results was high (65.1%-92.7%) and to reasons opposing disclosure was low (4.1%-18.1%). Genetics professionals expressed less support for arguments favouring disclosure (35.3%-78.8%), and more agreement with arguments opposing disclosure (15.7%-51.9%). A slim majority of genetics professionals (51.9%) agreed that a reason to avoid disclosure was the importance of allowing the child to decide to receive results. Qualitatively, there was a perceived "duty" to disclose, that if the clinician possessed the information, the clinician could not withhold it.
While a majority of respondents perceived a duty to disclose the incidental results of newborn screening, the policy implications of these attitudes are not obvious. In particular, policy must balance descriptive ethics (ie, what providers believe) and normative ethics (ie, what duty-based principles oblige), address dissenting opinion and consider the relevance of moral principles grounded in clinical obligations for public health initiatives.
扩展新生儿筛查会产生偶然结果，尤其是携带者结果。然而，新生儿筛查计划通常限制了父母对接受这种非健康相关遗传信息的选择。医疗保健提供者在教育家庭或照顾接受筛查的婴儿方面发挥着关键作用，并且对偶然结果的管理有强烈的信念。
为了为婴儿镰状细胞病（SCD）携带者结果的披露政策提供信息，在加拿大安大略省进行了一项针对医疗保健提供者的混合方法研究，以使用横断面调查（N=1615）和半结构化访谈（N=42）了解对结果管理的态度。
对支持披露 SCD 携带者结果的理由的一致性很高（65.1%-92.7%），而对反对披露的理由的一致性很低（4.1%-18.1%）。遗传专业人员对支持披露的论点表示的支持较少（35.3%-78.8%），而对反对披露的论点表示的同意较多（15.7%-51.9%）。只有少数遗传专业人员（51.9%）同意避免披露的一个原因是允许孩子决定是否接受结果的重要性。从定性上看，有一种“责任”来披露，即如果临床医生掌握了信息，就不能隐瞒它。
尽管大多数受访者认为有责任披露新生儿筛查的偶然结果，但这些态度的政策影响并不明显。特别是，政策必须平衡描述性伦理（即提供者的信念）和规范性伦理（即基于义务的原则所要求的义务），解决不同意见，并考虑基于临床义务的道德原则对公共卫生倡议的相关性。
