The ‘thousand-dollar genome’: an ethical exploration

Dondorp, Wybo; Wert, G.M.W.R. de

doi:10.1038/ejhg.2013.73

Cited by 65 publications

(61 citation statements)

References 71 publications

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“…While the rhetoric of precision medicine and the vision of population genomic screening advertised by direct-to-consumer firms have encouraged participation, we note that the value and benefit of genetic risk screening in a healthy population remains largely hypothetical. 91 We also note that use of DTC genetic testing in children conflicts with clinical and professional guidelines and recommendations, which focus on the best interest of the child and recommend limiting testing to clinical contexts and for conditions that manifest during childhood. 14, 85, 92 While counseling and follow-up on results would almost certainly require assistance from a clinician who can examine the infant or with whom they have an ongoing care relationship, those services are generally not built into the direct-to-consumer experience.…”

Section: Clinicians Should Counsel Parents Against Direct-to-consumermentioning

confidence: 98%

Sequencing Newborns:A Call for Nuanced Use of Genomic Technologies

Johnston¹,

Lantos²,

Goldenberg³

et al. 2018

Hastings Center Report

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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. We disagree. Given the pragmatic challenges associated with determining what sequencing data mean for the health of individuals, the economic costs associated with interpreting and acting on such data, and the psychosocial costs of predicting one's own or one's child's future life plans based on uncertain testing results, we think this hope and optimism deserve to be tempered. In the analysis that follows, we distinguish between two reasons for using sequencing: to diagnose individual infants who have been identified as sick and to screen populations of infants who appear to be healthy. We also distinguish among three contexts in which sequencing for either diagnosis or screening could be deployed: in clinical medicine, in public health programs, and as a direct-to-consumer service. Each of these contexts comes with different professional norms, policy considerations, and public expectations. Finally, we distinguish between two main types of genome sequencing: targeted sequencing, where only specific genes are sequenced or analyzed, and whole-exome or whole-genome sequencing, where all the DNA or all the coding segments of all genes are sequenced and analyzed. In a symptomatic newborn, targeted or genome-wide sequencing can help guide other tests for diagnosis or for specific treatment that is urgently needed. Clinicians use the infant's symptoms (or phenotype) to interrogate the sequencing data. These same complexities and uncertainties, however, limit the usefulness of genome-wide sequencing as a population screening tool. While we recognize considerable benefit in using targeted sequencing to screen for or detect specific conditions that meet the criteria for inclusion in newborn screening panels, use of genome-wide sequencing as a sole screening tool for newborns is at best premature. We conclude that sequencing technology can be beneficially used in newborns when that use is nuanced and attentive to context.

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Section: Clinicians Should Counsel Parents Against Direct-to-consumermentioning

confidence: 98%

Sequencing Newborns:A Call for Nuanced Use of Genomic Technologies

Johnston¹,

Lantos²,

Goldenberg³

et al. 2018

Hastings Center Report

View full text Add to dashboard Cite

show abstract

“…While the potential benefits of newborn genome sequencing are obvious, especially the potential to increase the number of identified disorders, the generalization of its practice raises a number of important ethical issues. These issues have raised public debate and have been discussed thoroughly in previous communications (see for example Berg et al, 2011;Biesecker, 2012;Dondorp & de Wert, 2013;Botkin et al, 2014;Burke & Dimmock, 2014;Feero, 2014;Beckmann, 2015). In this short article I argue that there are medical, psychological, ethical and economic reasons why widespread dissemination of this practice in newborn screening is still premature.…”

Section: Discussionmentioning

confidence: 92%

Challenges of using next generation sequencing in newborn screening

Reinstein

2015

Genet. Res.

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SummaryWhole-genome and whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. The term newborn screening refers to public health programs designed to screen newborns for various treatable metabolic conditions, by measuring levels of circulating blood metabolites. The availability and significant decrease in sequencing costs has raised the question of whether metabolic newborn screening should be replaced by whole-genome or whole-exome sequencing. While newborn genome sequencing can potentially increase the number of disorders identified by newborn screening, the generalization of its practice raises a number of important ethical issues. This short article argues that there are medical, psychological, ethical and economic reasons why widespread dissemination of newborn screening is still premature.

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“…These questions have generated a fair amout of discussion in Europe and the USA recently 61,62,k and some of the answers, which are currently straightforward for standard medical tests, might require additional pondering in the case of genetic tests. [63][64][65] Nonetheless, according to relevant legal norms, the informed consent paradigm and the principle of patient autonomy, patients have a right to decide what to be and not to be tested for. Furthermore, they also have a right to know and a right not to know.…”

Section: Prevention and Diagnosis: Genetic Testsmentioning

confidence: 99%

Ethical and legal challenges of personalized medicine: Paradigmatic examples of research, prevention, diagnosis and treatment

Cordeiro

2014

Revista Portuguesa de Saúde Pública

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The ‘thousand-dollar genome’: an ethical exploration

Cited by 65 publications

References 71 publications

Sequencing Newborns:A Call for Nuanced Use of Genomic Technologies

Sequencing Newborns:A Call for Nuanced Use of Genomic Technologies

Challenges of using next generation sequencing in newborn screening

Ethical and legal challenges of personalized medicine: Paradigmatic examples of research, prevention, diagnosis and treatment

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