Patient Autonomy and Incidental Findings in Clinical Genomics

Wolf, Susan M.; Annas, George J.; Elias, Sherman

doi:10.1126/science.1239119

Cited by 246 publications

(156 citation statements)

References 9 publications

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“…In response to the ensuing academic debate and call for revision from numerous genetic professionals and providers , the ACMG guidelines were re-issued the following year and an opt-out policy was recommended for patients who did not want to discover incidental findings [10][11][12][13][14].…”

Section: Though Tumor Sequencing Platforms Vary By Technique Germ-limentioning

confidence: 99%

“…Some in the oncology community suggest that reporting of incidental germ-line variants discovered as part of tumor profiling would substantially increase time expenditure, expense, and complexity of an already burdened clinical setting, and may negatively impact patients to the point where they may opt out from tumor testing altogether [14][15][16]. Others cite the debate as to whether there exists an obligation for laboratories to actively seek and report medically relevant germ-line mutations as outlined by the ACMG, particularly given that most patients undergoing tumor profiling have advanced disease and are themselves unlikely to benefit from the information on heritable diseases [1,9,13].…”

Section: Though Tumor Sequencing Platforms Vary By Technique Germ-limentioning

confidence: 99%

See 1 more Smart Citation

Patient preferences regarding incidental genomic findings discovered during tumor profiling

Yushak

Han

Bouberhan

et al. 2016

Cancer

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Precis: During the process of tumor profiling, there is potential to detect incidental germ-line variants for hereditary cancer syndromes and other major health issues. Amongst a cohort of ambulatory oncology patients, a majority indicated a preference to receive information on these incidental healthrelated findings, but personal preferences for disclosure of different types of incidental findings should be clarified in advance of ordering a tumor profiling test.Keywords: Genomics, genome, germ-line mutation, incidental findings, questionnaire, disclosure Abstract Introduction: During the process of tumor profiling, there is potential to detect germ-line variants.

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Section: Though Tumor Sequencing Platforms Vary By Technique Germ-limentioning

confidence: 99%

Section: Though Tumor Sequencing Platforms Vary By Technique Germ-limentioning

confidence: 99%

Patient preferences regarding incidental genomic findings discovered during tumor profiling

Yushak

Han

Bouberhan

et al. 2016

Cancer

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“…9 ASHG recommends that a list of genes should be investigated and that constitutional variants found in these genes should be reported back. 9 The recommendations have been followed by an intense debate 3,4,[10][11][12] IFs have been discussed in a research setting; 7,[13][14][15][16] both IFs in general, 7 whether one should disclose IFs or not 14 and IFs from a researcher's perspective. 15,16 Klitzman et al 16 interviewed researchers, and the majority believed that research participants should have the option to receive at least some incidental genetic research results.…”

Section: Introductionmentioning

confidence: 99%

Research participants in NGS studies want to know about incidental findings

et al. 2015

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Following the implementation of high-throughput sequencing legal and ethical issues are discussed intensively. The management of incidental findings (IFs) in a research setting have been investigated but there is a lack of literature concerning research participant's perspective. The aim of this study was to investigate whether research participants want disclosure of IFs and what kind of IFs they want to know about. One hundred and twenty-seven research participants in a study of gastrointestinal polyps were informed about whole-exome sequencing and the risk of IFs. They were asked to decide whether they (A) wanted disclosure of IFs no matter whether the variants were associated with a non-treatable or non-preventable condition, (B) wanted disclosure of variants associated with treatable or preventable conditions or (C) wanted no disclosure at all. Participants who wanted disclosure of all the IFs (A) accounted for the majority (n = 78), 45 of the participants only wanted disclosure of variants, which could lead to surveillance or treatment (B) and 4 participants did not want IFs to be disclosed at all (C). The study showed that almost all research participants wanted disclosure of at least some types of IFs.

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“…7,13 However, other commenters, as well as this document, 28 point out that additional findings, beyond the genes analyzed to answer the clinical question that prompted testing, are not evident without significant extra effort directed toward that end. 8,10 The use of the term incidental finding for both types of results is unfortunate, because the two types of findings are fundamentally different, one being unavoidable and the other requiring additional analysis and interpretation.…”

Section: Comparison With Incidental Findings In Other Areas Of Medicinementioning

confidence: 99%

Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective

Hegde

Bale²,

Bayrak-Toydemir

et al. 2015

The Journal of Molecular Diagnostics

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Advances in sequencing technologies have facilitated concurrent testing for many disorders, and the results generated may provide information about a patient's health that is unrelated to the clinical indication, commonly referred to as incidental findings. This is a paradigm shift from traditional genetic testing in which testing and reporting are tailored to a patient's specific clinical condition. Clinical laboratories and physicians are wrestling with this increased complexity in genomic testing and reporting of the incidental findings to patients. An enormous amount of discussion has taken place since the release of a set of recommendations from the American College of Medical Genetics and Genomics. This discussion has largely focused on the content of the incidental findings, but the laboratory perspective and patient autonomy have been overlooked. This report by the Association of Molecular Pathology workgroup discusses the pros and cons of nextgeneration sequencing technology, potential benefits, and harms for reporting of incidental findings, including the effect on both the laboratory and the patient, and compares those with other areas of medicine. The importance of genetic counseling to preserve patient autonomy is also reviewed. The discussion and recommendations presented by the workgroup underline the need for continued research and discussion among all stakeholders to improve our understanding of the effect of different policies on patients, providers, and laboratories. (J Mol Diagn 2015, 17: 107e117; http://dx

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Patient Autonomy and Incidental Findings in Clinical Genomics

Cited by 246 publications

References 9 publications

Patient preferences regarding incidental genomic findings discovered during tumor profiling

Patient preferences regarding incidental genomic findings discovered during tumor profiling

Research participants in NGS studies want to know about incidental findings

Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective

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