A systematic approach to the disclosure of genomic findings in clinical practice and research: a proposed framework with colored matrix and decision-making pathways

Kenji Matsui,Tomohide Ibuki,Shimon Tashiro,Keiichiro Yamamoto

doi:10.1186/s12910-021-00738-9

Kenji Matsui, Tomohide Ibuki + Show 2 more

Open Access

https://doi.org/10.1186/s12910-021-00738-9

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Abstract

BackgroundWhether and how to disclose genomic findings obtained in the course of genomic clinical practice and medical research has been a controversial global bioethical issue over the past two decades. Although several recommendations and judgment tools for the disclosure of genomic findings have been proposed, none are sufficiently systematic or inclusive or even consistent with each other. In order to approach the disclosure/non-disclosure practice in an ethical manner, optimal and easy-to-use tools for supporting the judgment of physicians/researchers in genomic medicine are necessary.MethodsThe bioethics literature on this topic was analyzed to parse and deconstruct the somewhat overlapping and therefore ill-defined key concepts of genomic findings, such as incidental, primary, secondary, and other findings. Based on the deconstruction and conceptual analyses of these findings, we then defined key parameters from which to identify the strength of duty to disclose (SDD) for a genomic finding. These analyses were then applied to develop a framework with the SDD matrix and systematic decision-making pathways for the disclosure of genomic findings.ResultsThe following six major parameters (axes), along with sub-axes, were identified: Axis 1 (settings and institutions where findings emerge); Axis 2 (presence or absence of intention and anticipatability in discovery); Axis 3 (maximal actionability at the time of discovery); Axis 4 (net medical importance); Axis 5 (expertise of treating physician/researcher); and Axis 6 (preferences of individual patients/research subjects for disclosure). For Axes 1 to 4, a colored SDD matrix for genomic findings was developed in which levels of obligation for disclosing a finding can be categorized. For Axes 5 and 6, systematic decision-making pathways were developed via the SDD matrix.ConclusionWe analyzed the SDD of genomic findings and developed subsequent systematic decision-making pathways of whether and how to disclose genomic findings to patients/research subjects and their relatives in an ethical manner. Our comprehensive framework may help physicians and researchers in genomic medicine make consistent ethical judgments regarding the disclosure of genomic findings.

Highlights

In parallel with rapid developments and practical implementation in genomic technology, ethical questions with respect to genomic studies in medical research and clinical practice have been discussed on a global level over the past two decades
In determining the strength of duty to disclose (SDD) category of each cell, we applied first and foremost “had better to be disclosed” to the category of those cells of Primary finding (PF) obtained in the clinical practice which have high net medical importance and have either the treatment/prevention option or the diagnosis option, because we considered no one would disagree with this categorization for those specific cells
Based on the conceptual analyses of genomic results including PFs, Secondary finding (SF), and Incidental finding (IF) (AUFs and Unanticipatable unintentional finding (UUF)), we studied the SDD of those findings, and the subsequent systematic decision-making pathway of whether and how to disclose them ethically to patients/subjects and their blood relatives

Summary

Introduction

In parallel with rapid developments and practical implementation in genomic technology, ethical questions with respect to genomic studies in medical research and clinical practice have been discussed on a global level over the past two decades. In 2013, the American College of Medical Genetics and Genomics (ACMG) listed 56 genes which they thought should be actively screened for and, if found, disclosed in clinical settings as “incidental findings” (IFs) [2]. Despite extensive debate and policy-making efforts, no international consensus on the disclosure of individual genomic findings has been reached in research or clinical contexts [6]. Whether and how to disclose genomic findings obtained in the course of genomic clinical practice and medical research has been a controversial global bioethical issue over the past two decades. In order to approach the disclosure/non-disclosure practice in an ethical manner, optimal and easy-to-use tools for supporting the judgment of physicians/researchers in genomic medicine are necessary

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