Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues: Table 1

Hallowell, Nina; Hall, Alison; Alberg, Corinna; Zimmern, Ron

doi:10.1136/medethics-2013-101996

Cited by 40 publications

(34 citation statements)

References 21 publications

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“…Efforts can be made to tailor disclosure of results. Strategies should vary with the degree of medical relevance and the type of test 1 20. In order to maximise utility and augment positive influence of DTC tests by matching customers' needs with technical support from test providers, behavioural economics-oriented approaches can be implemented in the disclosure procedures.…”

Section: Alternative Account Of Personal Utility and Related Policy Imentioning

confidence: 99%

Personal utility is inherent to direct-to-consumer genomic testing

Chung

2016

J Med Ethics

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People for and against direct-to-consumer (DTC) genomic tests are arguing around two issues: first, on whether an autonomy-based account can justify the tests; second, on whether the tests bring any personal utility. Bunnik et al, in an article published in this journal, were doubtful on the latter, especially in clinically irrelevant and uninterpretable sequences, and how far this claim could go in the justification. Here we argue that personal utility is inherent to DTC genomic tests and their results. We discuss Bunnik et al's account of personal utility and identify problems in its motivation and application. We then explore concepts like utility and entertainment which suggest that DTC genomic tests bring personal utility to their consumers, both in the motivation and the content of the tests. This points to an alternative account of personal utility which entails that entertainment value alone is adequate to justify DTC genomic tests, given appropriate strategies to communicate tests results with the consumers. It supports the autonomy-based justification of the test by showing that DTC genomic test itself stands as a valuable option and facilitates meaningful choice of the people.

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Section: Alternative Account Of Personal Utility and Related Policy Imentioning

confidence: 99%

Personal utility is inherent to direct-to-consumer genomic testing

Chung

2016

J Med Ethics

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“…37 Patients must be counseled regarding this possibility prior to testing and provided the opportunity to decide whether they would wish to know such results if any are found. 38 It is important to note that although this technology is capable of finding unexpected genetic mutations, due to multiple issues such as the variability associated with gene expressivity and penetrance, as well as ethical considerations, there is currently no clinical indication to perform exome sequencing as an elective screening test for assessing the risk of future disease in asymptomatic healthy individuals in the absence of other concerns.…”

mentioning

confidence: 99%

Clinical exome sequencing in neurologic disease

Fogel

Satya‐Murti²,

Cohen

2016

Neur Clin Pract

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Purpose of review: The landscape of genetic diagnostic testing has changed dramatically with the introduction of next-generation clinical exome sequencing (CES), which provides an unbiased analysis of all protein-coding sequences in the roughly 21,000 genes in the human genome. Use of this testing, however, is currently limited in clinical neurologic practice by the lack of a framework for appropriate use and payer coverage. Recent findings: CES can be cost-effective due to its high diagnostic yield in comparison to other genetic tests in current use and should be utilized as a routine diagnostic test in patients with heterogeneous neurologic phenotypes facing a broad genetic differential diagnosis. CES can eliminate the need for escalating sequences of conventional neurodiagnostic tests. Summary: This review discusses the role of clinical exome sequencing in neurologic disease, including its benefits to patients, limitations, appropriate use, and billing. We also provide a reference template policy for payer use when considering testing requests. Neurol Clin Pract 2016;6:164-176

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“…For the time being, the rate of turnaround of biochemical tests is far less than that of WES analysis, and the cost of the TIDE first tier is still less than that of WES on singleton and considerably less than on a trio. Further, biochemical tests carry a much smaller risk of incidental genetic findings [32]. Finally, biochemical tests have proven sensitive and reliable whereas WES may suffer from inconsistent coverage of certain regions [33].…”

Section: Considerationsmentioning

confidence: 98%