Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group

Abstract

The routine use of genomic sequencing in clinical medicine has the potential to dramatically alter patient care and medical outcomes. To fully understand the psychosocial and behavioral impact of sequencing integration into clinical practice, it is imperative that we identify the factors that influence sequencing-related decision making and patient outcomes. In an effort to develop a collaborative and conceptually grounded approach to studying sequencing adoption, members of the National Human Genome Research Institute's Clinical Sequencing Exploratory Research Consortium formed the Outcomes and Measures Working Group. Here we highlight the priority areas of investigation and psychosocial and behavioral outcomes identified by the Working Group. We also review some of the anticipated challenges to measurement in social and behavioral research related to genomic sequencing; opportunities for instrument development; and the importance of qualitative, quantitative, and mixed-method approaches. This work represents the early, shared efforts of multiple research teams as we strive to understand individuals' experiences with genomic sequencing. The resulting body of knowledge will guide recommendations for the optimal use of sequencing in clinical practice.

Exploring the Potential Emotional and Behavioural Impact of Providing Personalised Genomic Risk Information to the Public: A Focus Group Study

“…A study by Sanderson et al [22] found that hypothetical interest in genetic testing only modestly reflects future testing behaviour. Other studies have shown that expressed preferences for receiving genetic risk information and intentions to modify behaviour are not necessarily predictive of future preferences and behaviour change [4,6]. Therefore, participants' views in our study may differ to the actual implementation of the proposed intervention.…”

“…Our focus group participants believed that a negative emotional or psychological response would be more likely if the recipient misunderstood the personalised genomic risk information. An analysis of social and behavioural research related to delivery of genomic sequencing results in clinical practice found that most studies demonstrated either no change or a decrease in negative emotions such as anxiety or depression compared to prior levels after receipt of genetic risk information, even when individuals receive results reporting increased disease susceptibility [6]. A Cochrane systematic review [4] also found no evidence that communicating DNA-based disease risk had detrimental psychological effects, however the quality of included studies was generally poor.…”

“…Most common diseases such as cancer have complex multi-factorial causes influenced more frequently by multiple genetic and environmental factors rather than by single gene mutations [8]. Potential effects of returning risk information based on common variants across multiple genes ('genomic risk') to the wider population remain largely unexplored [1,2], and may differ to the impact of single-gene 'genetic risk' information because genomic risk is based on multiple probabilities and is not easily explained using family history [6].…”

“…Additionally, improvements in cancer screening have been demonstrated after receiving genetic test results [3]. However, it is difficult to draw inferences about the potential impact of genomic risk information based on existing studies [3], as they have mainly focussed on rare high-penetrance gene mutations in families with a strong family history [4], or on common variants in a single gene [3,6]. Most common diseases such as cancer have complex multi-factorial causes influenced more frequently by multiple genetic and environmental factors rather than by single gene mutations [8].…”

“…A recent review [6] found that most studies evaluating the impact of communicating genetic risk information have revealed either no change or a decrease in participants' negative emotions after receiving risk information. Additionally, improvements in cancer screening have been demonstrated after receiving genetic test results [3].…”