Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies

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Abstract

As exome and genome sequencing (ES, GS) enters the clinic, there is an urgent need to understand the psychological effects of test result disclosure. Through a Clinical Sequencing Exploratory Research (CSER), phase 1 (CSER1) consortium collaboration, we evaluated participants’ psychological outcomes across multiple clinical settings. We conducted a random effects meta-analysis of state anxiety (Hospital Anxiety and Depression Scale (HADS)/ Generalized Anxiety Disorder-7 item), depressive symptoms (HADS/ Personal Health Questionnaire-9 item), and multi-dimensional impact (i.e., test-related distress, uncertainty and positive impact: modified Multidimensional Impact of Cancer Risk Assessment/ Feelings About Genomic Testing Results scale). Anxiety and depression did not increase significantly following test result disclosure. Meta-analyses examining mean differences from pre- to post-disclosure revealed an overall trend for a decrease in participants’ anxiety. We observed low levels of test-related distress and perceptions of uncertainty in some populations (e.g., pediatric patients) and a wide range of positive responses. Our findings across multiple clinical settings suggest no clinically significant psychological harms from the return of ES/GS results. Some populations may experience low levels of test-related distress or greater positive psychological effects. Future research should further investigate the reasons for test-related psychological response variation.

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The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations

Laura M Amendola, Jonathan S Berg, Carol Horowitz … (2018)

The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its second funding cycle, is investigating the effectiveness of integrating genomic (exome or genome) sequencing into the clinical care of diverse and medically underserved individuals in a variety of healthcare settings and disease states. The consortium comprises a coordinating center, six funded extramural clinical projects, and an ongoing National Human Genome Research Institute (NHGRI) intramural project. Collectively, these projects aim to enroll and sequence over 6,100 participants in four years. At least 60% of participants will be of non-European ancestry or from underserved settings, with the goal of diversifying the populations that are providing an evidence base for genomic medicine. Five of the six clinical projects are enrolling pediatric patients with various phenotypes. One of these five projects is also enrolling couples whose fetus has a structural anomaly, and the sixth project is enrolling adults at risk for hereditary cancer. The ongoing NHGRI intramural project has enrolled primarily healthy adults. Goals of the consortium include assessing the clinical utility of genomic sequencing, exploring medical follow up and cascade testing of relatives, and evaluating patient-provider-laboratory level interactions that influence the use of this technology. The findings from the CSER consortium will offer patients, healthcare systems, and policymakers a clearer understanding of the opportunities and challenges of providing genomic medicine in diverse populations and settings, and contribute evidence toward developing best practices for the delivery of clinically useful and cost-effective genomic sequencing in diverse healthcare settings.

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Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study.

Rachel Dvoskin, Jarrod Scott, J. Bollinger … (2012)

People are interested in receiving their individual research results in exchange for participating in genetic research. However, it is unclear whether the public understands the nature and limitations of these results and whether they would want information with unknown clinical utility. We conducted 10 focus groups in three US cities to examine the types of results people would want and the perceived value of different types of individual research results. Nearly all focus group participants said they would want at least some individual research results returned. Priority was placed on results that are well understood. Less important to participants were the magnitude of the risk conferred and actionability of the result. In addition to helping treat or prevent disease, participants identified several other potential health-related and personal reasons for wanting individual research results. Many believed that researchers have an obligation to return individual research results. Although most people would prefer to receive as much information as possible, many would accept the return of a limited set of results. Participants understood the nuances and limitations of individual research results. Researchers deciding the value of returning a given result should consider using a broader definition of clinical utility as well as the possible personal utility of the information.