At the Research-Clinical Interface: Returning Individual Genetic Results to Research Participants

Clin J Am Soc Nephrol. 2020 Aug 7;15(8):1181-1189. doi: 10.2215/CJN.09670819. Epub 2020 Feb 10.


Whether individual results of genetic research studies ought to be disclosed to study participants has been debated in recent decades. Previously, the prevailing expert view discouraged the return of individual research results to participants because of the potential lack of analytic validity, questionable clinical validity and medical actionability, and questions about whether it is the role of research to provide participants with their data. With additional knowledge of participant perspectives and shifting views about the benefits of research and respect for participants, current expert consensus is moving toward support of returning such results. Significant ethical controversies remain, and there are many practical questions left to address, including appropriate procedures for returning results and the potential burden to clinicians when patients seek guidance about the clinical implications of research results. In this review, we describe current views regarding the return of genetic research results, including controversies and practical challenges, and consider the application of these issues to research on apolipoprotein L1 (APOL1), a gene recently associated with health disparities in kidney disease. Although this case is unique, it illustrates the complexities involved in returning results and highlights remaining questions.

Keywords: Kidney Genomics Series; apolipoprotein L1; consensus; disclosure; diseases; ethics; genetic renal disease; genetic research; humans; kidney; knowledge; research results.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Apolipoprotein L1 / genetics*
  • Genetic Counseling* / ethics
  • Genetic Predisposition to Disease
  • Genetic Testing* / ethics
  • Genetic Variation*
  • Humans
  • Kidney Failure, Chronic / diagnosis
  • Kidney Failure, Chronic / genetics*
  • Kidney Failure, Chronic / therapy
  • Phenotype
  • Predictive Value of Tests
  • Prognosis
  • Research Design*
  • Research Subjects*
  • Risk Assessment
  • Risk Factors


  • APOL1 protein, human
  • Apolipoprotein L1