Research Ethics Recommendations for Whole-Genome Research: Consensus Statement

Caulfield, Timothy; McGuire, Amy L.; Cho, Mildred; Buchanan, Janet A.; Burgess, Michael; Danilczyk, Ursula; Diaz, Christina M.; Fryer‐Edwards, Kelly; Green, Shane K.; Hodosh, Marc A.; Juengst, Eric T.; Kaye, Jane; Kedes, Laurence H.; Knoppers, Bartha Maria; Lemmens, Trudo; Meslin, Eric M.; Murphy, Juli; Nussbaum, Robert L.; Otlowski, Margaret; Pullman, Daryl; Ray, Peter N.; Sugarman, Jeremy; Timmons, Michael

doi:10.1371/journal.pbio.0060073

Cited by 212 publications

(182 citation statements)

References 13 publications

Supporting

Mentioning

177

Contrasting

Unclassified

Order By: Relevance

“…27 This is one reason that some authors advocate the use of filtering systems or various governing structures to relieve professionals and subjects from the burden of information overload. 11,12,22 Some degree of filtering is applied in any case in genetic sequencing, so that only the most likely disease-causing variants are analyzed. 28,29 These filtering systems could also be set up to automatically filter out results known to be insignificant or not actionable, depending on the context.…”

Section: Discussionmentioning

confidence: 99%

“…8,12,18,19,22,23 This can justifiably be called the strongest reason, because all of the other reasons we identified in the literature, either for or against disclosure or offering caution, present themselves either in accord with or in contrast to confirmed clinical utility and the possibility of treatment or prevention. Interestingly, only the articles dealing with research mention this reason.…”

Section: Reasons In Favor Of the Disclosure Of Ifsmentioning

confidence: 93%

“…The full texts of the resulting 35 articles were read, and eventually 13 articles were accepted for systematic review (Figure 1). Of these 13, 9 came from the original electronic databases searches, 3,8,12,[16][17][18][19][20][21] 4 from the 'snowballing method' , 11,13,22,23 and none from electronic updates between December 2010 and September 2011 from Pubmed and Web of Science.…”

Section: Electronic Database Searchesmentioning

confidence: 99%

“…11,16 A second reason for caution is that IFs, especially those arising from genetic testing, can have implications for close family members and for the community and relevant population groups. 3,11,12,17,20,22,23 These implications could be to the advantage or disadvantage of third parties. For example, it would be to the advantage of other family members to learn that they may be susceptible to a severe drug reaction, 17 while it would be to the disadvantage of all those with a particular genetic condition if an IF found during research and related to that specific condition led to discrimination and stigmatization.…”

Section: Ethical Reflections On Ifs Arising In Genetics Gm Christenhumentioning

confidence: 99%

See 3 more Smart Citations

To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts

2012

View full text Add to dashboard Cite

Any test that produces visual images or digital or genetic sequences will tend to produce incidental findings because more will be visible than what was originally sought. We conducted a systematic review of the ethical reasons presented in the literature for and against the disclosure of incidental findings arising in clinical and research genetics contexts. A search of electronic databases resulted in 13 articles included for systematic review. Articles presented reasons for and against disclosure, and reasons for proceeding with caution when making decisions about disclosure. One major recommendation of the reviewed articles is in favor of qualified disclosure: incidental findings with confirmed clinical utility where there is the possibility of treatment or prevention should be disclosed, with exceptions. A second type of recommendation is that disclosure should proceed with caution, especially in the context of new genetic technologies and genetic testing involving minors. It is also recommended that the number of possible incidental findings be limited even before genetic testing is carried out. Such a policy, which we advocate, would show preference for non-disclosure.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Reasons In Favor Of the Disclosure Of Ifsmentioning

confidence: 93%

Section: Electronic Database Searchesmentioning

confidence: 99%

Section: Ethical Reflections On Ifs Arising In Genetics Gm Christenhumentioning

confidence: 99%

See 2 more Smart Citations

To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts

2012

View full text Add to dashboard Cite

show abstract

“…Does the answer change if we identify a risk for disease with clear screening or treatment interventions as opposed to 1 that simply conveys prognostic information? 39 The clinical validity and relevance of the information, the specifics described in the process of informed consent, and the preferences of the research participant are all important considerations. [69][70][71] The purpose of research is not to provide results to individual participants but to advance science.…”

Section: Issue 4: Previously Unidentified Health Risks Uncovered As Amentioning

confidence: 99%

Ethical aspects of participation in the Database of Genotypes and Phenotypes of the National Center for Biotechnology Information

Peppercorn

Shapira

Deshields

et al. 2012

Cancer

View full text Add to dashboard Cite

BACKGROUND: The rapid pace of genetics research, coupled with evolving standards for informed consent, can create ethical challenges regarding future use of tissue or information from completed clinical trials. The Cancer and Leukemia Group B (CALGB) Oncology Cooperative Group was faced with an ethical dilemma regarding sharing genetic data from a completed genome‐wide association study (GWAS) that was conducted as part of a large, multicenter breast cancer clinical trial with a national database: the Database of Genotypes and Phenotypes National Center for Biotechnology Information (dbGaP). METHODS: The CALGB Ethics Committee conducted a series of multidisciplinary meetings and teleconferences involving patient advocates, bioethicists, clinical researchers, and clinical oncologists to evaluate the ethical issues raised by this case and to identify lessons for improving informed consent to future genetics research in oncology trials. RESULTS: The Ethics Committee recommended that GWAS data be provided to dbGaP consistent with documented consent for future use of tissue among trial participants. Ethical issues, including adequacy of informed consent to future research, limitations of privacy in modern genetics research, the potential impact of population‐based genetics research on health disparities, and recontact of research participants for clinical care or further research, were identified as major ethical considerations in this area. CONCLUSIONS: Although modern standards for informed consent should not prohibit research or sharing of data consistent with participant's intent and the public interest, there is an urgent need for national consensus on the appropriate use of archived tissue and standardized informed consent for future research among cancer clinical trial participants. Cancer 2012. © 2012 American Cancer Society.

show abstract

Informed Consent in Genetics

Knoppers

Avard

Thorogood

2012

Encyclopedia of Life Sciences

View full text Add to dashboard Cite

This chapter discusses the important role that informed consent plays in healthcare and medical research involving genetic testing. The requirement of informed consent for treatment and research poses additional difficulties for certain populations. The ethical challenges posed by the informed consent process for newborns, children, adolescents and incompetent adults are each addressed separately. This chapter also highlights two recent developments that have implications for informed consent: next‐generation genetic sequencing technologies and biobanking. These developments increase uncertainty over the predictive value of genetic test results. They also raise ethical concerns about the disclosure of the results of genetic tests to individuals and families, and the storage and future use of samples and data. In order to protect the interests of patients and research participants, these issues need to be addressed in the informed consent process. Key Concepts: Informed consent must be obtained before medical treatment or participation in medical research. Parental consent is generally required for research involving children and adolescents. Parental consent must be exercised in the best interests of the child or adolescent. In some circumstances, adolescents may be authorised to consent themselves for medical care or research. Whenever possible, assent from the child should be obtained according to his or her level of development and capacities. Research involving children and adolescents should present no more than minimal risk, unless there is a prospect of direct benefit. Explicit parental consent is not required for newborn screening since it is traditionally justified by the right of the child to receive the potential health benefits from screening. The storage of newborn bloodspots has increased the demand that newborn screening samples be made available for research. Biobanking involving children or newborn bloodspots has the potential to generate new medical knowledge but poses ethical challenges. The volume of data produced by next‐generation sequencing poses new challenges for informed consent, especially because of the possibility of discovery of incidental findings. The return of results in paediatric genetic studies raises complex issues for the use of next‐generation sequencing where incidental findings are revealed. Genetic research and diagnostic testing can also pose challenges for competent adults given the familial nature of genetic information. Research on incompetent adults is now allowed if it provides at least an indirect benefit to the related population, but few guidelines exist to allow legal representatives to make decisions about such participation. Biobanking involves the storage of biological samples, often for future research of an uncertain nature. Broad consent has been used to address this issue. Re‐consent of participants may be necessary if the research framework changes.

show abstract

Research Ethics Recommendations for Whole-Genome Research: Consensus Statement

Abstract: Interest in whole-genome research has grown substantially over the past few months. This article explores the challenging ethics issues associated with this work.

Cited by 212 publications

References 13 publications

To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts

To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts

Ethical aspects of participation in the Database of Genotypes and Phenotypes of the National Center for Biotechnology Information

Informed Consent in Genetics

Contact Info

Product

Resources

About