Challenges in Disclosure of Secondary Findings in Genomic Medicine in Rare Diseases: A Nationwide Survey of Japanese Institutions Outsourcing Comprehensive Genetic Testing
Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, et al. Successful application of genome sequencing in a diagnostic context: 1007 index cases from a clinically heterogeneous cohort. Eur J Hum Genet. 2021;29:141–53.
Ross JP, Dion PA, Roll GA. Exome sequencing in genetic diseases: recent advances and considerations. F1000Res. 2020;9:F1000 https://doi.org/10.12688/f1000research.19444.1. Faculty Rev-336.
Takahashi Y, Mizusawa H. Rare and Undiagnosed Diseases Initiative in Japan. JMA J. 2021;4:112–8.
Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, et al. Recommendations for reporting secondary outcomes in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a position statement from the American College of Medical Genetics and Genomics. Genet Med. 2017;19:249–55. [published correction appears in Genet Med. 2017;19:484].
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG Recommendations for Reporting Incidental Findings in Clinical Exome and Genome Sequencing. Genet Med. 2013;15:565–74. [published correction appears in Genet Med. 2017;19:606].
de Wert G, Dondorp W, Clarke A, Dequeker EMC, Cordier C, Deans Z, et al. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2021;29:365–77.
van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, et al. Whole genome sequencing in healthcare. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2013;21:580–4.
Kou T, Kanai M, Yamamoto Y, Kamada M, Nakatsui M, Sakuma T, et al. Clinical sequencing using next-generation sequencing-based multiplex genetic testing in patients with advanced solid tumors. Cancer Sci. 2017;108:1440–6.
Mukai Y, Ueno H. Creation and implementation of genomic cancer medicine in Japan. Cancer Sci. 2021;112:970–7.
Tsuchiya M, Yamada T, Akaishi R, Hamanoue H, Hirasawa A, Hyodo M, et al. Attitudes toward and current status of next-generation sequencing secondary outcome disclosure: a nationwide survey of clinical genetics professionals in Japan. J Hum Genet. 2020;65:1045–53.
Genomic Medicine Reporting Process Proposal: Comprehensive Tumor Genomic Profile Analysis and Comprehensive Germline/Genome Sequencing Analysis [First edition] http://sph.med.kyoto-u.ac.jp/gccrc/pdf/a10_teigen_20180321.pdf (in Japanese).
Guidelines for the communication process in genomic medicine. Part 2: Specific Principles of Full Germline Genetic Analysis Using Next Generation Sequencing [Revised 2nd edition] k103E_guidelines_part2_210908.pdf (kyoto-u.ac.jp).
Miller DT, Lee K, Chung WK, Gordon AS, Herman GE, Klein TE, et al. ACMG SF v3.0 checklist for reporting secondary findings in clinical exome and genome sequencing: a policy statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23:1381–90. [published correction appears in Genet Med. 2021; 23:1582–4]
Delanne J, Nambot S, Chassagne A, Putois O, Pelissier A, Peyron C, et al. Secondary outcomes of whole exome/genome sequencing assessing stakeholder perspectives. A review of the literature. Eur J Med Genet. 2019;62:103529.
Richer J, Laberge AM. Next Generation Sequencing Secondary Outcomes: What Does Actionable in Childhood Really Mean? Genet Med. 2019;21:124–32.
Wilfond BS, Fernandez CV, Green RC. Disclose the secondary results of pediatric sequencing to families: consider the “benefit for families”. J Law Med Ethics. 2015;43:552–8.
Barajas M, Ross LF. Attitudes of pediatric professionals towards secondary outcomes of genomic sequencing of children. J Pediatrician. 2015;166:1276–82.e7.
Bernhardt BA, Roche MI, Perry DL, Scollon SR, Tomlinson AN, Skinner D. Experiences in obtaining informed consent for genomic sequencing. Am J Med Genet A. 2015;167A:2635–46.
Rost C, Dent KM, Botkin J, Rothwell E. Experiences and lessons learned by genetic counselors in returning secondary genetic results to patients. J Genet Consulting. 2020;29:1234–44.
Smith LA, Douglas J, Braxton AA, Kramer K. Reporting incidental findings in clinical whole-exome sequencing: incorporation of 2013 ACMG recommendations into current genetic counseling practice. J Genet Consulting. 2015;24:654–62.
Downing NR, Williams JK, Daack-Hirsch S, Driessnack M, Simon CM. Genetics perspectives on the disclosure of incidental findings in genomics in the clinical setting. Patient education tips. 2013;90:133–8.
Townsend A, Adam S, Birch PH, Lohn Z, Rousseau F, Friedman JM. “I Want to Know What’s in Pandora’s Box”: Comparing Stakeholder Views on Incidental Findings in Clinical Whole Genome Sequencing. Am J Med Genet A. 2012;158A:2519–25.
Vornanen M, Aktan-Collan K, Hallowell N, Konttinen H, Kääriäinen H, Haukkala A. “I’d like to discuss this more with an expert”: a focus group study of Finnish adults’ perspectives on secondary genetic outcomes. J Genet community. 2018;9:305–14.
Kawame H, Fukushima A, Fuse N, Nagami F, Suzuki Y, Sakurai-Yageta M, et al. Returning Individual Genomic Results to Research Participants: Design and Pilot Study of the Tohoku Medical Megabank Project. J Hum Genet. 2022;67:9–17.
Veenstra DL, Roth JA, Garrison LP Jr, Ramsey SD, Burke W. A formal risk-benefit framework for genomic testing: facilitating the appropriate translation of genomics into clinical practice. Genet Med. 2010;12:686–93.
Christenhusz GM, Devriendt K, Peeters H, Van Esch H, Dierickx K. The communication of secondary variants: interviews with parents whose children underwent matrix-CGH testing. Clin Genet. 2014;86:207–16.
Shimada S, Yamada T, Iwakuma M, Kosugi S. Physicians’ perceptions of factors influencing secondary outcome disclosure in genomic tumor profiling in Japan: a qualitative study. Eur J Hum Genet. 2022;30:88–94.
Wu AC, McMahon P, Lu C. Ending the diagnostic odyssey – is whole genome sequencing the answer? JAMA Pediatrician. 2020;174:821–2.
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