Disclosure of incidental findings in cancer genomic research: investigators' perceptions on obligations and barriers

Kleiderman, Erika; Avard, Denise; Besso, A.; Ali‐Khan, Sarah E.; Sauvageau, Guy; Hébert, Julie

doi:10.1111/cge.12540

Cited by 20 publications

(26 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Most researchers agreed that participants have a “right” to their data and that researchers have an ethical obligation to align return practices with participants' preferences. These findings support other studies of stakeholder's perspectives about RoR in genetics research generally (Kleiderman et al, ; Klitzman et al, ; Middleton et al, ). According to studies examining attitudes toward RoR in psychiatric genetics in particular (Sundby et al, ), stakeholders favored the return of both pertinent and incidental findings to individual research participants, mirroring opinions of our researcher respondents.…”

Section: Discussionsupporting

confidence: 88%

“…Another study found that 74% of a general public sample would like to receive genetics research results if they participated in a study (Kaufman, Baker, Milner, Devaney, & Hudson, ). A qualitative study by Kleiderman et al () suggested that genetics researchers believe a “one‐size‐fits‐all” approach to returning incidental findings is inappropriate and that context needs to be considered.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Psychiatric genetics researchers' views on offering return of results to individual participants

Kostick

Brannan

Pereira

et al. 2018

American J of Med Genetics Pt B

View full text Add to dashboard Cite

In the middle of growing consensus that genomics researchers should offer to return clinically valid, medically relevant, and medically actionable findings identified in the course of research, psychiatric genetics researchers face new challenges. As they uncover the genetic architecture of psychiatric disorders through genome-wide association studies and integrate whole genome and whole exome sequencing to their research, there is a pressing need for examining these researchers' views regarding the return of results (RoR) and the unique challenges for offering RoR from psychiatric genetics research. Based on qualitative interviews with 39 psychiatric genetics researchers from different countries operating at the forefront of their field, we provide an insider's view of researchers' practices regarding RoR and the most contentious issues in psychiatry researchers' decision-making around RoR, including what are the strongest ethical, scientific, and practical arguments for and against offering RoR from this research. Notably, findings suggest that psychiatric genetics researchers (85%) overwhelmingly favor offering RoR of at least some findings, but only 22% of researchers are returning results. Researchers identified a number of scientific and practical concerns about RoR, and about how to return results in a responsible way to patients diagnosed with a severe psychiatric disorder. Furthermore, findings help highlight areas for further discussion and resolution of conflicts in the practice of RoR in psychiatric genetics research. As the pace of discovery in psychiatric genetics continues to surge, resolution of these uncertainties gains greater urgency to avoid ethical pitfalls and to maximize the positive impact of RoR. K E Y W O R D S attitudes, empirical, genetic, psychiatry, qualitative

show abstract

Section: Discussionsupporting

confidence: 88%

Section: Introductionmentioning

confidence: 99%

Psychiatric genetics researchers' views on offering return of results to individual participants

Kostick

Brannan

Pereira

et al. 2018

American J of Med Genetics Pt B

View full text Add to dashboard Cite

show abstract

“…5 Guidelines exist to help direct discussions on germline genetic testing 6 ; however, with the exception of incidental findings (IFs) directives, there are no established guidelines for informational and results-oriented discussions about tumor molecular testing. [7][8][9][10][11][12][13] For example, in the recently updated American Society of Clinical Oncology (ASCO) guidelines for genetic and genomic testing for cancer susceptibility, 14 the discussion of somatic molecular testing focuses on the discovery of incidental hereditary findings. Guideline development committees usually consist of experts, physicians, stakeholders, and patient advocates.…”

Section: Introductionmentioning

confidence: 99%

Discussing molecular testing in oncology care: Comparing patient and physician information preferences

Pinheiro

Pocock

Switchenko

et al. 2017

Cancer

View full text Add to dashboard Cite

Background Molecular testing to inform treatment and clinical trial choices is now standard of care in several types of cancer. However, no established guidelines exist for the type of information physicians should cover during discussions with the patient about the test or its results. The objectives of this study were to identify physician and patient information preferences, as well as their preferences on who should communicate this information and how, to inform guidelines for these conversations. Methods Physicians and patients that participate in discussions regarding molecular testing were asked to choose 8 topics of most relevance out of a list of 18. McNemar's test was used to determine their top preferences. Patients were asked who/what should inform them and physicians were asked to identify the best aid to communication. Results Sixty-six patients identified 12 preferred topics: benefits of testing(88%); how testing determines treatment(88%); implications for family(71%), if test shows seriousness of disease(68%), purpose(64%), incidental findings(56%); explanation of cancer genetics(53%), how the test is done(46%), limitations(44%), explanation of biomarker(42%), risks(42%), and uninformative result(38%). Physicians added cost(59%). Patients preferred receiving information about molecular testing from their nurse or physician(85%) and physicians preferred using a pamphlet(67%) to augment communication. Conclusion The topics identified as important to discuss can inform future guidelines as well as contribute to effective communication regarding molecular testing.

show abstract

“…Briefly, considerations which have been previously raised regarding the return of results include: benefit to research participants if the findings are not clinically valid or actionable, 27,28 health care providers not being sufficiently trained for the disclosure 29 and infrastructure requirements and costs. 30,31…”

Section: Discussionmentioning

confidence: 99%

Implementation of genomics in medical practice to deliver precision medicine for an Asian population

et al. 2019

View full text Add to dashboard Cite

Whilst the underlying principles of precision medicine are comparable across the globe, genomic references, health practices, costs and discrimination policies differ in Asian settings compared to the reported initiatives involving European-derived populations. We have addressed these variables by developing an evolving reference base of genomic and phenotypic data and a framework to return medically significant variants to consenting research participants applicable for the Asian context. Targeting 10,000 participants, over 2000 Singaporeans, with no known pre-existing health conditions, have consented to an extensive clinical health screen, family health history collection, genome sequencing and ongoing follow-up. Genomic variants in a subset of genes associated with Mendelian disorders and drug responses are analysed using an in-house bioinformatics pipeline. A multidisciplinary team reviews the classification of variants and a research report is generated. Medically significant variants are returned to consenting participants through a bespoke return-of-result genomics clinic. Variant validation and subsequent clinical referral are advised as appropriate. The design and implementation of this flexible learning framework enables a cohort of detailed phenotyping and genotyping of healthy Singaporeans to be established and the frequency of disease-causing variants in this population to be determined. Our findings will contribute to international precision medicine initiatives, bridging gaps with ethnic-specific data and insights from this understudied population.

show abstract

Disclosure of incidental findings in cancer genomic research: investigators' perceptions on obligations and barriers

Cited by 20 publications

References 29 publications

Psychiatric genetics researchers' views on offering return of results to individual participants

Psychiatric genetics researchers' views on offering return of results to individual participants

Discussing molecular testing in oncology care: Comparing patient and physician information preferences

Implementation of genomics in medical practice to deliver precision medicine for an Asian population

Contact Info

Product

Resources

About