Table 1.

Summary of recommendations in National Academy of Sciences report (3) with application to APOL1

RecommendationsSummary of Main PointsApplication to APOL1
Policies and structures needed
 Institution/investigator level
  Determine the conditions under which individual research results will be returned to participants (Recommendation 1)Investigators and institutions should make decisions regarding whether and how to return individual research results on a study-specific basisStudies involving genetic testing for APOL1 should consider whether and how to return such results
  Incorporate participant needs, preferences, and values in decision making about the return of individual research results (Recommendation 5)Investigators should review relevant literature, consult participant or community advisory boards and advocacy organizationsCurrent literature indicates broad personal value in returning APOL1 research results to individuals (31,33); however, more specific guidance to determine how to do so are needed
Research institutions and sponsors should support research access to community networks, resources, and training
Research sponsors should engage community and participant representatives to develop policy and guidance to bring participant needs, preferences, and values into decision making
  Ensure the high quality of individual research results that are returned to participants (Recommendation 3)Research institutions and IRBs should allow investigators to return results under specific conditions. Specific conditions under which individual research results may be returned center around CLIA compliance, a quality management system, or that the IRB has determined that the balance of benefit and risk to the participant is favorable, the quality is high enough, and the participant will be told the limits to the resultsBudget for confirmation of research results in a CLIA-compliant laboratory can be included in a grant proposal. IRB expertise is needed to review these plans or evaluate an alternative analytic quality approach if CLIA-compliant certification is not feasible
  Develop policies and procedures to the support review of plans regarding the return of individual research results (Recommendation 8)Research institutions and IRBs should develop structures to support assessment of return of results, including expertise on IRBs and resources for research teams to prepare appropriate protocols
 National level
  Develop a quality management system for research laboratories testing human biospecimens (Recommendation 2)The NIH should lead the effort to develop a system to ensure quality standards for research laboratories without CLIA certificationInstitution of research quality standards would increase feasibility of return of APOL1 research results
  Revise and harmonize regulations to support the return of individual research results (Recommendation 12)Regulators and policy makers across agencies should harmonize regulations for return of results, with specific recommendations addressing different federal agenciesHarmonization of federal policies would clarify regulations relevant to return of APOL1 research results
High-quality consent processes
 Ensure transparency regarding return of individual research results in the consent process (Recommendation 9)Investigators should conduct a clearly communicated informed consent process about range of aspects of the return of results processStudies planning to return APOL1 research results should include descriptions of when, why, and how such results may be offered to participants during the informed consent process, allowing individuals to choose whether to receive their results
 Enable understanding of individual research results by research participants (Recommendation 10)Investigators and institutions should ensure understanding of the results and their limitations, additional information and access to provider for questions, and using written formats and health information technology as availableAppropriate communication methods should be developed in collaboration with patients and community members to ensure understanding
Calls for funding
 Ensure adequate resources and infrastructure to generate high-quality research results (Recommendation 4)Research institutions and funding agencies should provide resources and infrastructure (i.e., training on how to meet standards, institutions to adopt standards, or become CLIA certified) to ensure that investigators can meet test quality standardsUntil greater institutional infrastructure exists, investigators can include plans to confirm APOL1 research results in CLIA-compliant laboratories in grant applications
 Include plans for the return of individual research results in research protocols (Recommendation 6)Research sponsors and funders should ensure that return of results plans are in grant applications and budgets and appropriately assessed in the scientific review processStudies planning to return APOL1 research results should include plans for offering results to individuals in grant proposals and budgets. Justification can draw from existing literature, including the NAS report
 Ensure planning for the return of individual research results in applications for funding (Recommendation 7)Investigators should include plans for return of results in their grant proposals and budgets
 Expand the empirical evidence base relevant to the return of individual research results (Recommendation 11)Research sponsors and funders should support additional research on benefits and harms of return of results and factors to develop best practicesAPOL1 provides an instructive case study through which to develop such best practices
Specific results
 Individual research results that should and should not be returned to participants (Box S-4 [ref. 3, p. 21])Obligatory to return: Urgent, clinically actionable results; results that are legal obligations under HIPAAAPOL1 research results do not fall into a category for obligatory return. However, evidence that participants value this information provides a strong rationale to do so if feasible
Discouraged from returning: Results that are not interpreted at the individual level, results that have limited value to participants and high cost or burden to return, results without clinical validity for a life-threatening or sensitive condition, and results with serious questions about analytic validity
  • IRB, institutional review board; CLIA, Clinical Laboratory Improvement Amendments; NIH, National Institutes of Health; NAS, National Academy of Sciences; HIPAA, Health Insurance Portability and Accountability Act.