Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland

Abstract

There is an increased pressure to return results from research studies. In Iceland, deCODE Genetics has emphasised the importance of returning results to research participants, particularly the founder pathogenic BRCA2 variant; NM_000059.3:c.771_775del. To do so, they opened the website www.arfgerd.is. Individuals who received positive results via the website were offered genetic counselling (GC) at Landspitali in Reykjavik. At the end of May 2019, over 46.000 (19% of adults of Icelandic origin) had registered at the website and 352 (0.77%) received text message informing them about their positive results. Of those, 195 (55%) contacted the GC unit. Additionally, 129 relatives asked for GC and confirmatory testing, a total of 324 individuals. Various information such as gender and age, prior knowledge of the variant and perceived emotional impact, was collected. Of the BRCA2 positive individuals from the website, 74 (38%) had prior knowledge of the pathogenic variant (PV) in the family. The majority initially stated worries, anxiety or other negative emotion but later in the process many communicated gratitude for the knowledge gained. Males represented 41% of counsellees as opposed to less than 30% in the regular hereditary breast and ovarian (HBOC) clinic. It appears that counselling in clinical settings was more reassuring for worried counsellees. In this article, we describe one-year experience of the GC service to those who received positive results via the website. This experience offers a unique opportunity to study the public response of a successful method of the return of genetic results from research.

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References

  1. 1.

    Saelaert M, Mertes H, De Baere E, Devisch I. Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate. Eur J Hum Genet. 2018;26:1424–31.

    Article  Google Scholar 

  2. 2.

    Thorogood A, Dalpe G, Knoppers BM. Return of individual genomic research results: are laws and policies keeping step? Eur J Hum Genet. 2019;27:535–46.

    Article  Google Scholar 

  3. 3.

    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.

    Article  Google Scholar 

  4. 4.

    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.

    CAS  Article  Google Scholar 

  5. 5.

    Carrieri D, Howard HC, Benjamin C, Clarke AJ, Dheensa S, Doheny S, et al. Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2019;27:169–82.

    Article  Google Scholar 

  6. 6.

    Middleton A, Mendes Á, Benjamin C, Howard H. Direct to consumer genetic testing: Where and how does genetic counselling fit? Personalized Med. 2017;14:249–57. https://doi.org/10.2217/pme-2017-000

    CAS  Article  Google Scholar 

  7. 7.

    Biesecker BB, Lewis KL, Biesecker LG. Web-based platform vs genetic counselors in educating patients about carrier results from exome sequencing-reply. JAMA Intern Med. 2018;178:999.

    Article  Google Scholar 

  8. 8.

    Lewis KL, Umstead KL, Johnston JJ, Miller IM, Thompson LJ, Fishler KP, et al. Outcomes of counseling after education about carrier results: a randomized controlled trial. Am J Hum Genet. 2018;102:540–6.

    CAS  Article  Google Scholar 

  9. 9.

    Stefansson K, Taylor J. Iceland’s genealogy database. Circulation. 2006;114:F103–F4.

    Google Scholar 

  10. 10.

    Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, et al. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet. 1996;13:117–9.

    CAS  Article  Google Scholar 

  11. 11.

    Gudbjartsson DF, Sulem P, Helgason H, Gylfason A, Gudjonsson SA, Zink F, et al. Sequence variants from whole genome sequencing a large group of Icelanders. Sci Data. 2015;2:150011.

    Article  Google Scholar 

  12. 12.

    Kari Stefansson. „Okkur ber skylda til að vara þetta fólk við“. Rætt við Kára Stefánsson um upplýsingavef ÍE um arfgengi BRCA2 stökkbreytingarinnar,. In: Hávar Sigurjónsson, editor. Iceland: Læknablaðið; 2018.

  13. 13.

    Stefansdottir V, Skirton H, Johannsson OT, Olafsdottir H, Olafsdottir GH, Tryggvadottir L, et al. Electronically ascertained extended pedigrees in breast cancer genetic counseling. Fam Cancer. 2019;18:153–60.

    CAS  Article  Google Scholar 

  14. 14.

    Committee on Practice Bulletins-Gynecology CoGSoGO. Practice bulletin no 182: hereditary breast and ovarian cancer syndrome. Obstet Gynecol. 2017;130:e110–e26.

    Article  Google Scholar 

  15. 15.

    Stefansdottir V, Arngrimsson R, Jonsson JJ. Iceland-genetic counseling services. J Genet Couns. 2013;22:907–10.

    Article  Google Scholar 

  16. 16.

    Brakkasamtökin. Opið hús hjá Brakkasamtökunum,. Iceland: www.visir.is; 2019.

  17. 17.

    Stamp MH, Gordon OK, Childers CP, Childers KK. Painting a portrait: Analysis of national health survey data for cancer genetic counseling. Cancer Med. 2019;8:1306–14.

    CAS  Article  Google Scholar 

  18. 18.

    Winchester E, Hodgson SV. Psychosocial and ethical issues relating to genetic testing for BRCA1 and BRCA2 breast cancer susceptibility genes. Women’s Health (Lond). 2006;2:357–73.

    CAS  Article  Google Scholar 

  19. 19.

    Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, et al. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet. 1996;13:117–9. https://doi.org/10.1038/ng0596-117

    CAS  Article  PubMed  Google Scholar 

  20. 20.

    Lynch HT, Snyder C, Stacey M, Olson B, Peterson SK, Buxbaum S, et al. Communication and technology in genetic counseling for familial cancer. Clin Genet. 2014;85:213–22.

    CAS  Article  Google Scholar 

  21. 21.

    Moll, J., Rexhepi, H., Cajander, Å., Grünloh, C., Huvila, I., Hägglund, M., Myreteg, G., Scandurra, I., & Åhlfeldt, R. M. Patients' Experiences of Accessing Their Electronic Health Records: National Patient Survey in Sweden. Journal of medical Internet research, 2018;20:e278. https://doi.org/10.2196/jmir.9492.

  22. 22.

    Fendall NR. Declaration of Alma-Ata. Lancet 1978;2:1308.

    CAS  Article  Google Scholar 

  23. 23.

    Mesko B, Gyorffy Z. The rise of the empowered physician in the digital health era: viewpoint. J Med Internet Res. 2019;21:e12490.

    Article  Google Scholar 

  24. 24.

    Sellberg N, Eltes J. The Swedish Patient Portal and its relation to the National Reference Architecture and the Overall eHealth Infrastructure. In: Aanestad M, Grisot M, Hanseth O, Vassilakopoulou P, editors. Information infrastructures within European health care: working with the installed base. Cham: Springer International Publishing; 2017. p. 225–44.

  25. 25.

    Kilpelainen K, Parikka S, Koponen P, Koskinen S, Rotko T, Koskela T, et al. Finnish experiences of health monitoring: local, regional, and national data sources for policy evaluation. Global Health Action. 2016;9.

  26. 26.

    Grisot M, Vassilakopoulou P, Aanestad M. The Norwegian eHealth Platform: development through cultivation strategies and incremental changes. In: Aanestad M, Grisot M, Hanseth O, Vassilakopoulou P, editors. Information infrastructures within European health care: working with the installed base. Cham: Springer International Publishing; 2017. p. 193–208.

  27. 27.

    Jensen TB, Thorseng AA. Building National Healthcare Infrastructure: the case of the Danish e-Health Portal. In: Aanestad M, Grisot M, Hanseth O, Vassilakopoulou P, editors. Information infrastructures within European health care: working with the installed base. Cham: Springer International Publishing; 2017. p. 209–24.

  28. 28.

    Kristen McAlpine, Krystina B. Lewis, Lyndal J. Trevena, and Dawn Stacey. What Is the Effectiveness of Patient Decision Aids for Cancer-Related Decisions? A Systematic Review Subanalysis (2018). JCO Clinical Cancer Informatics 2018;2:1-13

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Acknowledgements

Acknowledgement for helpful comments: Professor Hans Tomas Björnsson.

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Correspondence to Vigdis Stefansdottir.

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Stefansdottir, V., Thorolfsdottir, E., Hognason, H.B. et al. Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland. Eur J Hum Genet 28, 1656–1661 (2020). https://doi.org/10.1038/s41431-020-0665-1

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