In 2013, the U.S. National Institutes of Health funded four large interdisciplinary research projects exploring the “implications, challenges and opportunities associated with the possible use of g...

To consider whether or not we should aim to create a perfect healthy utopia on Earth, we focus on the SF novel Harmony, written by Japanese writer Project Ito, and analyze various issues in the world established in the novel from a bioethical standpoint. In the world depicted in Harmony, preserving health and life is a top priority. Super-medicine is realized through highly advanced medical technologies. Citizens in Harmony are required to strictly control themselves to achieve perfect health and must (...) always disclose their health information to the public and continuously prove their health. From a bioethical standpoint, the world in Harmony is governed by a “healthy longevity supremacy” principle, with being healthy equated to being good and right. Privacy no longer exists, as it is perceived ethical for citizens to openly communicate health-related information to establish one’s credibility. Moreover, there is no room for self-determination concerning healthcare because medical interventions and care are completely routinized, automated, centralized, and instantly provided. This is a situation where the community exhibits extremely powerful and effective paternalism. One can argue that healthy longevity is highly preferred. But is it right to aim for a perfectly healthy society at all costs? Should we sacrifice freedom, privacy, vivid feelings, and personal dignity to achieve such a world? In our view, the answer is no, as this would require the loss of many essential values. We conclude by proposing an alternative governing principle for future healthcare, and refer to it as the “do-everything-in-moderation” principle. (shrink)

If I told you that screening technologies are iteratively transforming how people experience pregnancy and early parenting, you might take notice. If I mentioned that a new class of newborn patients was being created and that particular forms of parental vigilance were emerging, you might want to know more. If I described how the particular stories told about screening in public, combined with parents’ fierce commitment to safeguarding their children’s health, make it difficult for problematic experiences with screening to translate (...) into negative opinions about it, you would most likely be intrigued. An extensive qualitative literature documents all these social phenomena, and more, in connection with the spread of prenatal and newborn screening. So why is it, then, that commentators frequently assert that the predicted psychosocial impact of increased screening and testing associated with “the genomic revolution” has been far less severe and worthy of attention than predicted? How can or should social science “evidence” that sits outside adopted measurement conventions be considered? Why is it that summary statements about the psychosocial impact of genomic information often ignore qualitative evidence, or sideline it as relevant only for improving communication among patients, clinicians, and public health systems? This essay addresses such questions, using qualitative research on prenatal and newborn screening as a case study for illustrating the broad methodological, ideological, and dialogical issues at stake. (shrink)

Despite a century of progress in medical knowledge, many diagnostic odysseys end in disappointment, especially when the child has a developmental disorder. In cases of autism and intellectual disability, relatively few children receive a specific diagnosis, and virtually none of those diagnoses lead to a specific medical treatment. Whole‐genome or ‐exome sequencing offers a quantum leap in the diagnostic odyssey, in that we will always learn something from sequencing—sometimes much more than families bargained for, as discussed elsewhere in this special (...) report. The trick is whether the knowledge gained will help the child and family. A family‐centered approach gives families permission to choose but does not lay all of the responsibility on them. The goal is to pursue the degree of medical diagnostic evaluation that matches the family's values. (shrink)