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Clinical Genomic Screening Informed Consent Concepts and Strategies: A Rapid Scoping Review

Health Services and Implementation
  • Primary Categories:
    • ElSI Ethics Legal and Social Issues
  • Secondary Categories:
    • ElSI Ethics Legal and Social Issues
Introduction:
Genomic screening – screening unselected individuals for genomic variants that increase disease risk – has expanded rapidly. Recent publications demonstrate that research genomic screening programs are effective at identifying patients with hereditary cardiovascular and cancer conditions, many of whom would be otherwise unaware of their risk given the low detection rates of these conditions in clinical care. Furthermore, these patients often receive a related clinical diagnosis after disclosure of the genomic screening result. Most current genomic screening programs are research projects with informed consent overseen by institutional review board requirements, which may be more than is necessary for clinical consent. However, existing diagnostic genetic testing consent recommendations may not be applicable to clinical genomic screening, either, given that, unlike genomic screening, this testing is prompted by a patient’s personal or family history and is often accompanied by a genetics specialty visit. As genomic screening will likely expand from research projects into clinical care, our team completed a rapid scoping review to explore literature related to consent for clinical genomic screening. The goal of the scoping review was to identify existing informed consent concepts and strategies relevant to population genomic screening and gaps in the literature.

Methods:
This study followed the PRISMA-ScR (Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews) methodology to complete a rapid scoping review. Studies published in English related to informed consent for population genomic screening were included. A medical librarian developed the search strategy to identify relevant literature. A preliminary search of PubMed/MEDLINE was completed to identify relevant subject headings and keywords, with search string translated for Embase. Following the literature search, two independent reviewers screened titles and abstracts for inclusion, with discrepancies resolved through consensus discussions. Full text screening of remaining articles for final inclusion was completed in the same manner. Data extraction utilized a standardized template to capture specific details (e.g., year of publication, journal, study design, population). Additionally, content relevant to informed consent concepts (what topics are covered during consent) and approaches (how consent is obtained) was extracted. Thematic analysis was applied to categorize the concepts and strategies.

Results:
Of the 735 articles of potential relevance, 18 met inclusion criteria. Of these, only five discussed consent for genomic screening in a clinical context, while 13 discussed informed consent for participation in a genomic screening research study with return of clinically actionable results. No articles included the perspectives of patients or non-genetics clinicians, and most provided only theoretical frameworks for considering genomic screening consent strategies. Furthermore, some articles had conflicting recommendations for what content to include in informed consent for genomic screening. Many strategies for obtaining consent were described, from written documents only, to online interactive dynamic consent, to full pre-test genetic counseling.  

 

Conclusion:
We identified three key knowledge gaps in this literature on consent for population genomic screening: 1) there are conflicting recommendations for content to include in pre-test clinical genomic screening discussions, 2) there is a lack of specific strategies to implement consent conversations for clinical population genomic screening, and 3) the articles were from the perspective of experts in genetics and bioethics without input from patients or non-genetic clinicians. Given existing lower levels of engagement, access, and trust in genomic medicine for historically underserved populations, it is possible that as genomic screening expands, some individuals will be left behind. An equitable approach to informed decision-making for genomic screening must incorporate perspectives from diverse patient populations to address disparities. Future research should obtain input from diverse patient and clinician constituents to determine content and approaches for offering genomic screening in a clinical context.

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