University of North Carolina - Chapel Hill, Department of Social Medicine, 333 South Columbia Street, MacNider Hall, Room #348, Chapel Hill, NC 27599-7240, United States.
Soc Sci Med. 2011 Oct;73(7):1014-8. doi: 10.1016/j.socscimed.2011.06.062. Epub 2011 Jul 27.
In a significant departure from established criteria for population screening, a 2006 report by the American College of Medical Geneticists (ACMG) argued that newborn screening may be justified by family and societal benefits even if the screened infant does not stand to benefit. The ACMG report has since been the backdrop for considerable debate about the presumptive benefits of newborn screening. Understandings of family benefits have focused on how information provided by newborn screening may enhance reproductive decision-making, reduce the diagnostic odyssey, and alleviate the burden of raising a child with special health care needs. This paper identifies and describes an additional consequence of newborn screening for families. Specifically, we draw upon audio-recordings and clinical observations from a three-year ethnographic study of expanded newborn screening in California (November 2007-July 2010) to examine the potential for newborn screening to diagnose mothers with genetic disorders. This consequence of expanded newborn screening suggests the possibility of a different type of family spillover from that anticipated by the ACMG report. However, whether this knowledge benefits families depends on how the significance of genetic information is established in the clinic and the family's ability to act on this information. We show that the newborn screening health care infrastructure is not designed to provide treatment for adult patients, so the identification of maternal disease does not necessarily prove beneficial for families.
与既定的人口筛查标准有重大背离的是，美国医学遗传学院（ACMG）在 2006 年的一份报告中指出，即使被筛查的婴儿本身无法受益，新生儿筛查也可能具有家庭和社会效益。自此，ACMG 的报告引发了关于新生儿筛查假定效益的大量争论。对家庭效益的理解侧重于新生儿筛查提供的信息如何能够增强生殖决策、减少诊断的曲折、减轻抚养有特殊医疗需求的孩子的负担。本文确定并描述了新生儿筛查对家庭的另一个后果。具体来说，我们借鉴了加利福尼亚州扩大新生儿筛查的三年民族志研究（2007 年 11 月至 2010 年 7 月）中的音频记录和临床观察，以研究新生儿筛查有可能诊断出患有遗传疾病的母亲。这种扩大的新生儿筛查的后果表明，可能存在与 ACMG 报告所预期的不同类型的家庭溢出。然而，这种遗传信息对家庭是否有益，取决于遗传信息在临床和家庭中的重要性如何确立，以及家庭能否据此采取行动。我们表明，新生儿筛查的医疗基础设施并非专为治疗成年患者而设计，因此，发现母亲患病并不一定对家庭有益。
