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Hastings Center Report

Jeffrey P Brosco
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...
July 2018: Hastings Center Report
Ingrid A Holm
A significant portion of newborns cared for in the neonatal intensive care unit or other ICUs, such as the cardiac ICU, have a medical condition with a genetic component, including congenital malformations, the leading cause of death in the NICU. In many cases, however, it is not clear which condition the child has or what can be done to help him or her. Genomic sequencing of sick newborns has the potential to bypass the prolonged journey to a diagnosis, improving the medical care of individual infants. Sequencing also has the potential to benefit others beyond the child whose genome is sequenced and his or her immediate family...
July 2018: Hastings Center Report
Jennifer M Puck
Now widely adopted, SCID newborn screening has proven effective for early identification and treatment of SCID. In addition, screening has improved our understanding of SCID and related disorders, which are more diverse than originally believed. Newborn screening for SCID illustrates how adding new disorders to newborn screening panels can be enormously beneficial if evidence-based guidelines are adhered to and if mechanisms are in place to track outcomes and learn along the way. These lessons should guide all additions to newborn screening, including those involving sequencing...
July 2018: Hastings Center Report
Jeremy Michelson
I attended the NSIGHT Ethics and Policy Advisory Board's meeting on sequencing newborns as a research associate in a joint apprenticeship between the University of California, San Francisco, Institute for Human Genetics and the university's Program in Bioethics. But I also came to the meeting with a deeply personal perspective: I had spent nearly my entire childhood in search of a diagnosis and therefore was eager to hear the board's discussion on how to ethically include genomic sequencing early in life. Genomic sequencing in the newborn period could have helped me avoid my diagnostic odyssey by revealing the cause of my condition shortly after birth...
July 2018: Hastings Center Report
Diane B Paul
In recent years, as newborn screening has expanded to include conditions for which treatment is questionable, new rationales for screening have proliferated. One such rationale is the potential reproductive benefit to parents from the detection of a genetic condition or carrier status in infants. An unanticipated consequence of invoking knowledge of reproductive risk as a major benefit of screening has been to open newborn screening to the charge that it constitutes state-sanctioned eugenics. Thus, an endeavor that had been viewed as the converse of state programs of selective breeding has come to be seen in some quarters as yet another of its incarnations...
July 2018: Hastings Center Report
Robert J Currier
Some state-based newborn screening programs in the United States already use sequencing technology, as a secondary screening test for individual conditions rather than as a broad screening tool. Newborn screening programs sequence an individual gene, such as the cystic fibrosis transmembrane conductance regulator, which causes cystic fibrosis, after an initial biochemical test suggests that a baby might have a condition related to that gene. The experiences of state public health departments with individual-gene sequencing illustrate both the usefulness of the technology and its complexities...
July 2018: Hastings Center Report
(no author information available yet)
No abstract text is available yet for this article.
July 2018: Hastings Center Report
Josephine Johnston, Eric Juengst
As new parents quickly learn, parenting always involves choosing your battles. Ideally, parents have the freedom to make those moral choices without the prejudice of an unreasonable or premature inflicted ought. Resolving the predictive uncertainties of genomic information is the professional responsibility of the biomedical community, just as clarifying the impact of global warming or assessing the risks of rising multidrug resistance is the responsibility of similar specialists. Until sequencing can give parents clear and meaningful information that they can use to protect their children without also burdening parents with uncertain findings about which little if anything can be done, it makes no sense to impute an obligation for them to seek it out...
July 2018: Hastings Center Report
Rachel L Zacharias, Monica E Smith, Jaime S King
The possible integration of genomic sequencing (including whole-genome and whole-exome sequencing) into the three contexts addressed in this special report-state-mandated screening programs, clinical care, and direct-to-consumer services-raises related but distinct legal issues. This essay will outline the legal issues surrounding the integration of genomic sequencing into state newborn screening programs, parental rights to refuse and access sequencing for their newborns in clinical and direct-to-consumer care, and privacy-related legal issues attending the use of sequencing in newborns...
July 2018: Hastings Center Report
Megan A Lewis, Natasha Bonhomme, Cinnamon S Bloss
As next-generation genomic sequencing, including whole-genome sequencing information, becomes more common in research, clinical, and public health contexts, there is a need for comprehensive communication strategies and education approaches to prepare patients and clinicians to manage this information and make informed decisions about its use, and nowhere is that imperative more pronounced than when genomic sequencing is applied to newborns. Unfortunately, in-person counseling is unlikely to be applicable or cost-effective when parents obtain genomic risk information directly via the Internet...
July 2018: Hastings Center Report
(no author information available yet)
No abstract text is available yet for this article.
July 2018: Hastings Center Report
Cynthia M Powell
Massively parallel sequencing, also known as next-generation sequencing, has the potential to significantly improve newborn screening programs in the United States and around the world. Compared to genetic tests whose use is well established, sequencing allows for the analysis of large amounts of DNA, providing more comprehensive and rapid results at a lower cost. It is already being used in limited ways by some public health newborn screening laboratories in the United States and other countries-and it is under study for broader and more widespread use, including as a core part of newborn screening programs...
July 2018: Hastings Center Report
Stacey Pereira, Ellen Wright Clayton
While the NSIGHT program was driven by a desire to define and gather data about both the benefits and harms of introducing genomic sequencing into the care of newborns, it remains to be seen how much influence these data will have in shaping the use of this technology in newborns. Ultimately, three additional forces-commercial interests, the technological imperative, and advocates-may play a significant role in shaping the use of sequencing in newborns. Policy-makers and clinicians should be aware of the effects of these additional forces when considering the appropriate use of this technology in clinical practice and public health screening programs...
July 2018: Hastings Center Report
Josephine Johnston, John D Lantos, Aaron Goldenberg, Flavia Chen, Erik Parens, Barbara A Koenig
Many scientists and doctors hope that affordable genome sequencing will lead to more personalized medical care and improve public health in ways that will benefit children, families, and society more broadly. One hope in particular is that all newborns could be sequenced at birth, thereby setting the stage for a lifetime of medical care and self-directed preventive actions tailored to each child's genome. Indeed, commentators often suggest that universal genome sequencing is inevitable. Such optimism can come with the presumption that discussing the potential limits, cost, and downsides of widespread application of genomic technologies is pointless, excessively pessimistic, or overly cautious...
July 2018: Hastings Center Report
Rachel Grob, Scott Roberts, Stefan Timmermans
Debates about expanding newborn screening with whole genome sequencing are fueled by data about public perception, public opinion, and the positions taken by public advocates and advocacy groups. One form of evidence that merits attention as we consider possible uses of whole-genome sequencing during the newborn period is parents' (and children's) diverse experiences with existing expanded screening protocols. What do we know about this experience base? And what implications might these data have for decisions about how we use whole genome sequencing and how we assess its impact in the future? Although the broader literature on genetic susceptibility testing suggests that testing usually does not have adverse effects on children's psychosocial well-being, certain newborn screening results have been demonstrated to cause distress, alter behavior, and even to influence the formation of new parental and family identities...
July 2018: Hastings Center Report
Michael Hauskeller
In Phenomenological Bioethics: Medical Technologies, Human Suffering, and the Meaning of Being Alive, the Swedish philosopher Fredrik Svenaeus aims to show how the continental tradition of phenomenology can enrich bioethical debates by adding important but often-ignored perspectives, namely, that of lived experience. Phenomenology focuses not on supposedly objective, scientifically validated facts, but on the "life world" of the individuals affected by a situation. Individuals' life worlds consist of their experience of their own lived bodies (or Leiber) and the meaning structures of their everyday worlds...
May 21, 2018: Hastings Center Report
Carolyn P Neuhaus
When President Obama laid out his vision for the U.S. Precision Medicine Initiative in a 2016 Boston Globe op-ed, he cautioned, "[I]t only works if we collect enough information first." "Collecting information" is an apt way to describe the subject of both books reviewed here. Jenny Reardon's The Postgenomic Condition: Ethics, Justice, and Knowledge after the Genome traces the history of the Human Genome Project and efforts around the globe to obtain blood samples to extract not only genetic data but also meaning from them...
May 2018: Hastings Center Report
(no author information available yet)
No abstract text is available yet for this article.
May 2018: Hastings Center Report
Jason Adam Wasserman, Mark Christopher Navin
When a patient lacks decision-making capacity, then according to standard clinical ethics practice in the United States, the health care team should seek guidance from a surrogate decision-maker, either previously selected by the patient or appointed by the courts. If there are no surrogates willing or able to exercise substituted judgment, then the team is to choose interventions that promote a patient's best interests. We argue that, even when there is input from a surrogate, patient preferences should be an additional source of guidance for decisions about patients who lack decision-making capacity...
May 2018: Hastings Center Report
Alex John London
Following a boom in investment and overinflated expectations in the 1980s, artificial intelligence entered a period of retrenchment known as the "AI winter." With advances in the field of machine learning and the availability of large datasets for training various types of artificial neural networks, AI is in another cycle of halcyon days. Although medicine is particularly recalcitrant to change, applications of AI in health care have professionals in fields like radiology worried about the future of their careers and have the public tittering about the prospect of soulless machines making life-and-death decisions...
May 2018: Hastings Center Report
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