Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings

Boardman, Felicity K.; Hale, Rachel

doi:10.1002/mgg3.485

Cited by 19 publications

(22 citation statements)

References 49 publications

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“…In line with these rights, non-disclosure of clinically relevant information has been ethically rejected and a patient's right to be informed about (specific) IFs has been acknowledged [8,15]. However, whether this right also installs the professional duty to deliberately pursue additional findings as SFs, is contested.…”

Section: Introductionmentioning

confidence: 99%

Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study

et al. 2020

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Background: Incidental findings (IFs) and secondary findings (SFs), being results that are unrelated to the diagnostic question, are the subject of an important debate in the practice of clinical genomic medicine. Arguments for reporting these results or not doing so typically relate to the principles of autonomy, nonmaleficence and beneficence. However, these principles frequently conflict and are insufficient by themselves to come to a conclusion. This study investigates empirically how ethical principles are considered when actually reporting IFs or SFs and how value conflicts are weighed. Methods: A qualitative focus group study has been undertaken, including a multidisciplinary group of professionals from Belgian centres for medical genetics. The data were analysed thematically. Results: All eight Belgian centres participated in this study. Ethical values were frequently referred to for disclosure policies on IFs and SFs. Participants invoked respect for patient autonomy to support the disclosure of IFs and optout options for IFs and SFs, non-maleficence for the professional delineation of reportable IFs and opt-out options for IFs and SFs and (the particular scope of) beneficence for the mandatory reporting of actionable IFs, the delineation of reportable IFs and a current decline of actively pursued SFs. Professional assumptions about patients' genetic literacy were an important factor in the weighing of values. Conclusions: In line with the traditional bioethical discourse, the mandatory reporting of actionable IFs might be interpreted as a "technological, soft paternalism". Restricting patients' choices might be acceptable, but then its motives should be valid and its beneficent outcomes highly plausible. Hence, the presuppositions of technological, soft paternalism -patients' inability to make informed decisions, normative rationality, the efficacy of beneficent outcomes and the delineated spectrum of beneficence -should be approached critically. Moreover, distributive justice should be considered an important value in the delineation of the current scope of the ethical debate on IFs and SFs. This study of guiding values may stimulate the debate on the ethical grounds for a solid policy on IFs and SFs internationally.

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Section: Introductionmentioning

confidence: 99%

Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study

et al. 2020

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“…Further, when dealing with the emotional responses and problem-based coping of patients discussed in this study, the interviewees used strategies to maximize patient comprehension, encouraged appropriate medical actions by the patient, and helped patients adjust to receiving unexpected health information; all of which can be incorporated when returning SFs in the second category by Boardman and Hale (2018). As described in our study, there were typically two stages of emotional reactions by patients when receiv- (Green et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Experiences and lessons learned by genetic counselors in returning secondary genetic findings to patients

Rost

Dent

Botkin

et al. 2020

Journal of Genetic Counseling

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Few studies have explored the real-world experiences and strategies of genetic counselors involved in the process of returning secondary findings (SFs). This study aimed to describe and categorize the experiences for the return of SFs from clinical sequencing. Semi-structured telephone interviews with 21 genetic counselors representing 56 incidences were conducted. A content analysis was conducted on the transcripts through an iterative, team-based approach. Four common categories emerged across all interviews. These included (a) the importance of pretest counseling for the return of SFs, (b) how primary test results influenced the level of importance placed on the SFs, (c) patients' emotional reactions from receiving SF results, and (d) how returning SFs changed future pretest counseling and consent. This study identified experiences and common practices by genetic counselors who returned SFs. More research is needed to assess how genetic counselors' specific strategies improve patient comprehension and medical actions. K E Y W O R D S genetic counseling, genetic testing, return of results, secondary finding | 1235 ROST eT al. How to cite this article: Rost C, Dent KM, Botkin J, Rothwell E. Experiences and lessons learned by genetic counselors in returning secondary genetic findings to patients.

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“…It must be said that the discovery of IFs in the forensic field implies a reflection on many of the ethical principles and issues that have already been discussed in the literature in the fields of clinical and biomedical research, and forensic experts are often forced to confront these issues [ 23 , 24 , 25 ].…”

Section: Discussionmentioning

confidence: 99%

New Frontiers and Old Challenges: How to Manage Incidental Findings When Forensic Diagnosis Goes Beyond

2020

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Incidental findings (IFs) are well known in medical research and clinical practice as unexpected findings having potential health or reproductive importance for an individual. IFs are discovered under different contexts but do not fall within the aim of a study, and/or are unanticipated or unintentionally revealed, and/or are not the specific focus or target of the particular research or clinical query. Today, in forensic settings, we can consider as incidental findings all the information that is neither related to the cause of death nor to the dynamic of the event or the scope of the forensic investigation. The question whether and how professionals should consider traditional values as guiding notions in the reporting of IFs in the context of forensic assessments is the focus of this article. We propose a descriptive analysis, which focuses on the forensic field, describing forensic situations in which IFs may occur, and whether and to whom they may be disclosed. Some considerations will be provided regarding forensic experts concerning their moral commitment to warn relatives about IFs.

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Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings

Cited by 19 publications

References 49 publications

Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study

Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study

Experiences and lessons learned by genetic counselors in returning secondary genetic findings to patients

New Frontiers and Old Challenges: How to Manage Incidental Findings When Forensic Diagnosis Goes Beyond

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