May Thomas
Ursula Von der Ruhr Professor of Bioethics at the Medical College of Wisconsin, and Affiliated Faculty at the Institute for Health and Aging, University of California San Francisco.
J Law Med Ethics. 2015 Spring;43(1):134-42. doi: 10.1111/jlme.12201.
This paper examines three possible justifications for original ACMG recommendations to return incidental findings from whole exome or genome sequencing independent of patient preferences. The first two potential justifications, based on a patient's authentic values, then on harms to others, are founding lacking as a basis of justification for these recommendations. The third, grounded in analogous professional practices, might serve as a potential justification if several controversies can be avoided. However, given the nature of these controversies and the need to instill public trust in this newly emerging science, the paper finds that updated ACMG recommendations that recognize opt-out rights on behalf of patients is the most prudent, and justifiable, approach.
本文探讨了美国医学遗传学与基因组学学会(ACMG)最初提出的不考虑患者偏好而返回全外显子组或基因组测序偶然发现结果的三项可能的理由。前两项潜在理由,一是基于患者的真实价值观,二是基于对他人的危害,作为这些建议的正当理由依据是不成立的。第三项理由基于类似的专业实践,如果能避免若干争议,可能会成为一项潜在的正当理由。然而,鉴于这些争议的性质以及在这一新兴科学中树立公众信任的必要性,本文认为,认可患者选择退出权的更新后的ACMG建议是最审慎且合理的做法。