Skip to main navigation menu Skip to main content Skip to site footer
##common.pageHeaderLogo.altText##

Original article

Vol. 147 No. 4142 (2017)

High participation rate among 25 721 patients with broad age range in a hospital-based research project involving whole-genome sequencing – the Lausanne Institutional Biobank

  • Murielle Bochud
  • Christine Currat
  • Laurence Chapatte
  • Cindy Roth
  • Vincent Mooser
DOI
https://doi.org/10.4414/smw.2017.14528
Cite this as:
Swiss Med Wkly. 2017;147:w14528
Published
20.10.2017

Summary

AIMS

We aimed to evaluate the interest of adult inpatients and selected outpatients in engaging in a large, real-life, hospital-based, genomic medicine research project and in receiving clinically actionable incidental findings.

METHODS

Within the framework of the cross-sectional Institutional Biobank of Lausanne, Switzerland, a total of 25 721 patients of the CHUV University Hospital were systematically invited to grant researchers access to their biomedical data and to donate blood for future analyses, including whole-genome sequencing. Multivariable logistic regression analysis was used to identify personal factors, including age, gender, religion, ethnicity, citizenship, education level and mode of admission, associated with willingness to participate in this genomic research project and with interest in receiving clinically actionable incidental findings.

RESULTS

The overall participation rate was 79% (20 343/25 721). Participation rate declined progressively with age, averaging 83%, 75%, 67% and 62% in patients aged <64 years (n = 13 108), ≥64 years (n = 12 613), ≥80 years (n = 4557) and ≥90 years (n = 1050), respectively. Factors associated with participation substantially differed between age strata. Patients less likely to participate included women (odds ratio 0.86, [95% confidence interval 0.79–0.95] and 0.78 [0.71–0.85] before and after age 64, respectively), non-Swiss (0.81 [0.74–0.90] and 0.58 [0.52–0.65]) and those admitted through the emergency ward (0.88 [0.79–0.98] and 0.66 [0.60–0.73]). Religion and marital status were associated with participation among patients aged <64 years. A total of 19 018 (93%) participants were willing to be re-contacted for incidental findings. A high education level was associated with higher participation rate, but not with higher willingness to receive incidental findings within the population who had agreed to participate.

CONCLUSION

A large proportion of adult patients, even among the elderly, are willing to actively participate and receive incidental findings in this systematic hospital-based precision and genomic medicine research program with broad consent.

References

  1. Collins FS, Varmus H. A new initiative on precision medicine. N Engl J Med. 2015;372(9):793–5. doi:.https://doi.org/10.1056/NEJMp1500523
  2. Muñoz M, Pong-Wong R, Canela-Xandri O, Rawlik K, Haley CS, Tenesa A. Evaluating the contribution of genetics and familial shared environment to common disease using the UK Biobank. Nat Genet. 2016;48(9):980–3. doi:.https://doi.org/10.1038/ng.3618
  3. Leitsalu L, Alavere H, Tammesoo ML, Leego E, Metspalu A. Linking a population biobank with national health registries-the estonian experience. J Pers Med. 2015;5(2):96–106. doi:.https://doi.org/10.3390/jpm5020096
  4. Ashley EA. The precision medicine initiative: a new national effort. JAMA. 2015;313(21):2119–20. doi:.https://doi.org/10.1001/jama.2015.3595
  5. Kaiser J. NIH plots million-person megastudy. Science. 2015;347(6224):817. doi:.https://doi.org/10.1126/science.347.6224.817
  6. Mosley JD, Van Driest SL, Weeke PE, Delaney JT, Wells QS, Bastarache L, et al. Integrating EMR-linked and in vivo functional genetic data to identify new genotype-phenotype associations. PLoS One. 2014;9(6):e100322. doi:.https://doi.org/10.1371/journal.pone.0100322
  7. Relling MV, Evans WE. Pharmacogenomics in the clinic. Nature. 2015;526(7573):343–50. doi:.https://doi.org/10.1038/nature15817
  8. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al.; American College of Medical Genetics and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15(7):565–74. doi:.https://doi.org/10.1038/gim.2013.73
  9. Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, et al. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study. Science. 2016;354(6319):aaf6814. doi:.https://doi.org/10.1126/science.aaf6814
  10. Hu Y, Li L, Ehm MG, Bing N, Song K, Nelson MR, et al. The benefits of using genetic information to design prevention trials. Am J Hum Genet. 2013;92(4):547–57. doi:.https://doi.org/10.1016/j.ajhg.2013.03.003
  11. Bush WS, Oetjens MT, Crawford DC. Unravelling the human genome-phenome relationship using phenome-wide association studies. Nat Rev Genet. 2016;17(3):129–45. doi:.https://doi.org/10.1038/nrg.2015.36
  12. Storr CL, Or F, Eaton WW, Ialongo N. Genetic research participation in a young adult community sample. J Community Genet. 2014;5(4):363–75. doi:.https://doi.org/10.1007/s12687-014-0191-3
  13. McVeigh TP, Sweeney KJ, Kerin MJ, Gallagher DJ. A qualitative analysis of the attitudes of Irish patients towards participation in genetic-based research. Ir J Med Sci. 2016;185(4):825–31. doi:.https://doi.org/10.1007/s11845-015-1373-7
  14. Groth SW, Dozier A, Demment M, Li D, Fernandez ID, Chang J, et al. Participation in Genetic Research: Amazon’s Mechanical Turk Workforce in the United States and India. Public Health Genomics. 2016;19(6):325–35. doi:.https://doi.org/10.1159/000452094
  15. Critchley C, Nicol D, Otlowski M. The impact of commercialisation and genetic data sharing arrangements on public trust and the intention to participate in biobank research. Public Health Genomics. 2015;18(3):160–72. doi:.https://doi.org/10.1159/000375441
  16. Porteri C, Pasqualetti P, Togni E, Parker M. Public’s attitudes on participation in a biobank for research: an Italian survey. BMC Med Ethics. 2014;15(1):81. doi:.https://doi.org/10.1186/1472-6939-15-81
  17. Platt T, Platt J, Thiel DB, Fisher N, Kardia SL. ‘Cool! and creepy’: engaging with college student stakeholders in Michigan’s biobank. J Community Genet. 2014;5(4):349–62. doi:.https://doi.org/10.1007/s12687-014-0190-4
  18. Murphy Bollinger J, Bridges JF, Mohamed A, Kaufman D. Public preferences for the return of research results in genetic research: a conjoint analysis. Genet Med. 2014;16(12):932–9. doi:.https://doi.org/10.1038/gim.2014.50
  19. Mählmann L, Röcke C, Brand A, Hafen E, Vayena E. Attitudes towards personal genomics among older Swiss adults: An exploratory study. Appl Transl Genomics. 2016;8:9–15. doi:.https://doi.org/10.1016/j.atg.2016.01.009
  20. Amiri L, Cassidy-Bushrow AE, Dakki H, Li J, Wells K, Oliveria SA, et al. Patient characteristics and participation in a genetic study: a type 2 diabetes cohort. J Investig Med. 2014;62(1):26–32. doi:.https://doi.org/10.2310/JIM.0000000000000022
  21. Freeman BD, Butler K, Bolcic-Jankovic D, Clarridge BR, Kennedy CR, LeBlanc J, et al. Surrogate receptivity to participation in critical illness genetic research: aligning research oversight and stakeholder concerns. Chest. 2015;147(4):979–88. doi:.https://doi.org/10.1378/chest.14-0797
  22. Richards JE, Bane E, Fullerton SM, Ludman EJ, Jarvik G. Allocation of Resources to Communication of Research Result Summaries: Biobank Participant Perspectives. J Empir Res Hum Res Ethics. 2016;11(4):364–9. doi:.https://doi.org/10.1177/1556264616667126
  23. Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, et al.; DDD study. Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research. Eur J Hum Genet. 2016;24(1):21–9. doi:.https://doi.org/10.1038/ejhg.2015.58
  24. Allen NL, Karlson EW, Malspeis S, Lu B, Seidman CE, Lehmann LS. Biobank participants’ preferences for disclosure of genetic research results: perspectives from the OurGenes, OurHealth, OurCommunity project. Mayo Clin Proc. 2014;89(6):738–46. doi:.https://doi.org/10.1016/j.mayocp.2014.03.015
  25. Ahram M, Othman A, Shahrouri M, Mustafa E. Factors influencing public participation in biobanking. Eur J Hum Genet. 2014;22(4):445–51. doi:.https://doi.org/10.1038/ejhg.2013.174
  26. Bollinger JM, Scott J, Dvoskin R, Kaufman D. Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study. Genet Med. 2012;14(4):451–7. doi:.https://doi.org/10.1038/gim.2011.66
  27. Dye T, Li D, Demment M, Groth S, Fernandez D, Dozier A, et al. Sociocultural variation in attitudes toward use of genetic information and participation in genetic research by race in the United States: implications for precision medicine. J Am Med Inform Assoc. 2016;23(4):782–6. doi:.https://doi.org/10.1093/jamia/ocv214
  28. Mooser V, Currat C. The Lausanne Institutional Biobank: a new resource to catalyse research in personalised medicine and pharmaceutical sciences. Swiss Med Wkly. 2014;144:w14033. https://smw.ch/en/article/doi/smw.2014.14033/
  29. Maurer F, Pradervand S, Guilleret I, Nanchen D, Maghraoui A, Chapatte L, et al. Identification and molecular characterisation of Lausanne Institutional Biobank participants with familial hypercholesterolaemia - a proof-of-concept study. Swiss Med Wkly. 2016;146:w14326. https://smw.ch/en/article/doi/smw.2016.14326/
  30. Maggo SD, Savage RL, Kennedy MA. Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. Clin Pharmacokinet. 2016;55(4):419–36. doi:. Correction in: Clin Pharmacokinet. 2016;55(4):437. https://doi.org/10.1007/s40262-015-0324-9
  31. Trevisan C, Veronese N, Maggi S, Baggio G, Toffanello ED, Zambon S, et al. Factors Influencing Transitions Between Frailty States in Elderly Adults: The Progetto Veneto Anziani Longitudinal Study. J Am Geriatr Soc. 2017;65(1):179–84. doi:.https://doi.org/10.1111/jgs.14515
  32. Bledsoe MJ, Clayton EW, McGuire AL, Grizzle WE, O’Rourke PP, Zeps N. Return of research results from genomic biobanks: cost matters. Genet Med. 2013;15(2):103–5. doi:.https://doi.org/10.1038/gim.2012.105
  33. Burke W, Evans BJ, Jarvik GP. Return of results: ethical and legal distinctions between research and clinical care. Am J Med Genet C Semin Med Genet. 2014;166(1):105–11. doi:.https://doi.org/10.1002/ajmg.c.31393
  34. Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, et al.; eMERGE Act-ROR Committee and CERC Committee; CSER Act-ROR Working Group. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 2014;94(6):818–26. doi:.https://doi.org/10.1016/j.ajhg.2014.04.009
  35. Shkedi-Rafid S, Dheensa S, Crawford G, Fenwick A, Lucassen A. Defining and managing incidental findings in genetic and genomic practice. J Med Genet. 2014;51(11):715–23. doi:.https://doi.org/10.1136/jmedgenet-2014-102435

Most read articles by the same author(s)