Abstract
Large-scale, low-cost genome analysis has become possible with next-generation sequencing technology, which is currently used in research and clinical practice. Many attempts of returning individual genomic results have commenced not only in clinical practice, but also in research settings of several countries. In Japan, the government guidelines include a section on the disclosure of genetic information regarding genome analysis in research. However, no practical guidance for the return of individual genomic results in research settings (ROGRR) currently exists. We propose practical guidance regarding ROGRR in Japan based on extensive research, including a literature review of related previous studies, an examination of the relevant legislation in Japan, and interviews with stakeholders. The guidance we developed consists of “Points to consider” and “Issues for further discussion and consideration.” The “Points to consider” were divided into five parts, from preliminary review before discussion of policy, to the actual return and follow-up process, in the order of the assumed ROGRR process. It is anticipated that a situation will arise where numerous research projects will consider ROGRR carefully and realistically in the future, and in the process of drafting such practical guidance, various issues requiring continuous discussion will emerge. The necessities of continuous discussion concerning ROGRR in Japan’s context is increasing, particularly in terms of the ethical, legal, and social implications. We believe such discussions and considerations may contribute to creating a new system that will increase availability of personalized medicine and prevention using genetic information, allowing them to become useful to the broader population.
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References
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15:565–74.
Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19:249–55.
Burke W, Antommaria AH, Bennett R, Botkin J, Clayton EW, Henderson GE, et al. Recommendations for returning genomic incidental findings? We need to talk! Genet Med. 2013;15:854–9.
Scheuner MT, Peredo J, Benkendorf J, Bowdish B, Feldman G, Fleisher L, et al. Reporting genomic secondary findings: ACMG members weigh in. Genet Med. 2015;17:27–35.
McGuire AL, Joffe S, Koenig BA, Biesecker BB, McCullough LB, Blumenthal-Barby JS, et al. Point-counterpoint. Ethics and genomic incidental findings. Science. 2013;340:1047–8.
National Academies of Sciences, Engineering, and Medicine. Returning individual research results to participants: guidance for a new research paradigm. Washington D.C.: National Academies Press; 2018.
Wolf SM, Crock BN, Van Ness B, Lawrenz F, Kahn JP, Beskow LM, et al. Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genet Med. 2012;14:361–84.
Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, et al. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 2014;94:818–26.
Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, et al. A model for genome-first care: returning secondary genomic findings to participants and their healthcare providers in a large research cohort. Am J Hum Genet. 2018;103:328–37.
Smith LA, Douglas J, Braxton AA, Kramer K. Reporting incidental findings in clinical whole exome sequencing: incorporation of the 2013 ACMG recommendations into current practices of genetic counseling. J Genet Couns. 2015;24:654–62.
Alver M, Palover M, Saar A, Lall K, Zekavat SM, Tonisson N, et al. Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia. Genet Med. 2019;21:1173–80.
Ormondroyd E, Mackley MP, Blair E, Craft J, Knight JC, Taylor JC, et al. “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project. Genet Med. 2018;20:320–8.
Ministry of Education, Culture, Sports, Science and Technology, Ministry of Health, Labour and Welfare, Ministry of Economy, Trade and Industry. Ethical guidelines for human genome/gene analysis research 2001 (Latest revision: 2017). https://www.mhlw.go.jp/file/06-Seisakujouhou-10600000-Daijinkanboukouseikagakuka/0000153405.pdf.
The Japanese Association of Medical Sciences. Guidelines for genetic tests and diagnoses in medical practice 2011. http://jams.med.or.jp/guideline/genetics-diagnosis_e.pdf.
Leading the way to Genomic Medicine by ELSI Research Program. Return of individual genomic results in research settings; a proposal on the points to consider and the discussion agenda for the future. https://www.amed.go.jp/content/000048196.pdf
Tohoku University Tohoku Medical Megabank Organization. Return of genomic results to cohort study participants. https://www.megabank.tohoku.ac.jp/english/research/cohortbiobank/ror/.
Kiyozumi Y, Horiuchi Y, Nishimura S, Kado N, Mizuguchi M, Shimoda Y, et al. Examination of the returning genomic results of secondary findings and genetic counseling systems in clinical genome study—Practice in Shizuoka Cancer Center Project HOPE. Jpn J Genet Couns. 2018;39:129–38.
Ministry of Health, Labour and Welfare. Overview of Medical Service Regime in Japan. https://www.mhlw.go.jp/bunya/iryouhoken/iryouhoken01/dl/01_eng.pdf.
Sapp JC, Johnston JJ, Driscoll K, Heidlebaugh AR, Miren Sagardia A, Dogbe DN, et al. Evaluation of recipients of positive and negative secondary findings evaluations in a hybrid CLIA-research sequencing pilot. Am J Hum Genet. 2018;103:358–66.
Acknowledgements
The authors thank all the interviewees who led the Japanese genome studies and were involved in genomic medicine. The work is supported by the Japan Agency for Medical Research and Development (grant number 18km0405301). FN and YA are supported by the Tohoku Medical Megabank Project through the Ministry of Education, Culture, Sports, Science and Technology, Japan; by the Reconstruction Agency, Japan; by Japan Agency for Medical Research and the Development; grant numbers JP19km0105001 and JP19km0105002. Authors also thanked all members of the Tohoku Medical Megabank Organization, Tohoku University, and the Department of Biomedical Ethics and Public Policy, at Osaka University.
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Aizawa, Y., Nagami, F., Ohashi, N. et al. A proposal on the first Japanese practical guidance for the return of individual genomic results in research settings. J Hum Genet 65, 251–261 (2020). https://doi.org/10.1038/s10038-019-0697-y
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DOI: https://doi.org/10.1038/s10038-019-0697-y
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