Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

Abstract

Genome-wide sequencing in a research setting has the potential to reveal health-related information of personal or clinical utility for the study participant. There is increasing pressure to return research findings to participants that may not be related to the project aims, particularly when these could be used to prevent disease. Such secondary, unsolicited or 'incidental findings' (IFs) may be discovered unintentionally when interpreting sequence data, or as the result of a deliberate opportunistic screen. This cross-sectional, web-based survey investigated attitudes of 6944 individuals from 75 countries towards returning IFs from genome research. Participants included four relevant stakeholder groups: 4961 members of the public, 533 genetic health professionals, 843 non-genetic health professionals and 607 genomic researchers who were invited via traditional media, social media and professional e-mail list-serve. Treatability and perceived utility of incidental results were deemed important with 98% of stakeholders personally interested in learning about preventable life-threatening conditions. Although there was a generic interest in receiving genomic information, stakeholders did not expect researchers to opportunistically screen for IFs in a research setting. On many items, genetic health professionals had significantly more conservative views compared with other stakeholders. This finding demonstrates a disconnect between the views of those handling the findings of research and those participating in research. Exploring, evaluating and ultimately addressing this disconnect should form a priority for researchers and clinicians alike. This social sciences study offers the largest dataset, published to date, of attitudes towards issues surrounding the return of IFs from sequencing research.

Return of individual genomic research results: what do consent forms tell participants?

“…[14][15][16] Researchers have also found support for returning findings from secondary analysis. 17 Current guidelines endorse the return of results that are valid, clinically significant, and provide some measure of benefit to the participant. [18][19][20][21][22] The American College of Medical Genetics and Genomics goes further and argues that there is an ethical and professional obligation to offer sequencing results related to 56 genes that meet their threshold of clinical significance.…”

Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing

“…The identification of such findings poses an ethical and practical dilemma when evaluating an individual's exome or genome. Over the last decade, this topic has been the center of significant investigation and discussion, particularly with regard to which results should be returned (21,38,46,50,62,74,77,112,130). As such, the ACMG has put forth guidelines outlining the types of results that should be reported to patients during clinical genome-scale diagnostic testing (51).…”

Genetics in the 21st Century: Implications for patients, consumers and citizens

“…Such ’Variants of Unknown Significance’ are results where the meaning is unclear and are more likely to be discovered when multiple genes are tested for at once 10 . In addition to the management of uncertainty, patients will be faced with more information options and so it becomes ever more pertinent to ask ‘how much do you really want to know?’ 11 . Given the ability to look at multiple genes within one test, genomic technologies deliver an opportunity to serendipitously explore genes unrelated to the health condition being explored.…”

“…This means that when a patient has their cancer genes looked at it would also be possible, at the same time, to explore their genes linked to heart disease. Such results might be referred to as ‘additional looked for findings’ 3 , ‘secondary or incidental findings’ or an ‘opportunistic screen’ 11 . Indeed, within the NHS’s 100,000 Genomes Project parents of a child who is having genome sequencing can have the opportunity to be tested for ‘additional looked for findings’ related to their own risk of future disease, unrelated to their child’s condition 12 .…”