Abstract
Lowered costs of genomic sequencing facilitate analyzing large segments of genetic data. Ethical debate has focused on whether and what kind of incidental or secondary findings (SFs) to report, and how to obtain valid informed consent. However, people’s support needs after receiving SFs have received less attention. We explored Finnish adults’ perspectives on reporting genetic SFs. In this qualitative study which included four focus group discussions (N = 23) we used four vignette letters, each reporting a genetic SF predisposing to a different disease: familial hypercholesterolemia, long QT syndrome, Lynch syndrome, and Li-Fraumeni syndrome. Transcribed focus group discussions were analyzed using inductive thematic analysis. Major themes were immediate shock, dealing with worry and heightened risk, fear of being left alone to deal with SFs, disclosing to family, and identified support needs. Despite their willingness to receive SFs, participants were concerned about being left alone to deal with them. Empathetic expert support and timely access to preventive care were seen as essential to coping with shock and worry, and disclosing SFs to family. Discussion around SFs needs to concern not only which findings to report, but also how healthcare systems need to prepare for providing timely access to preventive care and support for individuals and families.
Similar content being viewed by others
References
Aktan-Collan K, Haukkala A, Pylvänäinen K, Järvinen HJ, Aaltonen LA, Peltomäki P, Rantanen E, Kääriäinen H, Mecklin J-P (2007) Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing. J Med Genet 44:732–738
Aktan-Collan K, Kääriäinen H, Järvinen H, Peltomäki P, Pylvänäinen K, Mecklin J-P, Haukkala A (2013) Psychosocial consequences of predictive genetic testing for lynch syndrome and associations to surveillance behaviour in a 7-year follow-up study. Familial Cancer 12:639–646
Aktan-Collan KI, Kääriäinen HA, Kolttola EM, Pylvänäinen K, Järvinen HJ, Haukkala AH, Mecklin J-P (2011) Sharing genetic risk with next generation: mutation-positive parents’ communication with their offspring in Lynch syndrome. Familial Cancer 10:43–50
Barbour R (2008) Doing focus groups. Sage, Newcastle
Bollinger JM, Scott J, Dvoskin R, Kaufman D (2012) Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study. Genet Med 14:451–457
Braun V, Clarke V (2006) Using thematic analysis in psychology. Qual Res Psychol 3:77–101
Christenhusz GM, Devriendt K, Dierickx K (2013) To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts. Eur J Hum Genet 21:248–255
Christenhusz GM, Devriendt K, Peeters H, Van Esch H, Dierickx K (2014) The communication of secondary variants: interviews with parents whose children have undergone array-CGH testing. Clin Genet 86:207–216
Daack-Hirsch S, Driessnack M, Hanish A, Johnson VA, Shah LL, Simon CM, Williams JK (2013) ‘Information is information’: a public perspective on incidental findings in clinical and research genome-based testing. Clin Genet 84:11–18
van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, Howard HC, Cambon-Thomsen A, Knoppers BM, Meijers-Heijboer H et al (2013) Whole-genome sequencing in health care. Eur J Hum Genet 21:S1–S5
Facio FM, Eidem H, Fisher T, Brooks S, Linn A, Kaphingst KA, Biesecker LG, Biesecker BB (2013) Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study. Eur J Hum Genet 21:261–265
Fried TR (2016) Shared decision making—finding the sweet spot. N Engl J Med 374:104–106
Gaff CL, Clarke AJ, Atkinson P, Sivell S, Elwyn G, Iredale R, Thornton H, Dundon J, Shaw C, Edwards A (2007) Process and outcome in communication of genetic information within families: a systematic review. Eur J Hum Genet 15:999–1011
Gourna EG (2016) A cross-national investigation of professionals’ attitudes regarding clinical sequencing and incidental findings. Department of Health Sciences
Hallowell N, Foster C, Eeles R, Ardern-Jones A, Murday V, Watson M (2003) Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information. J Med Ethics 29:74–79
Hallowell N, Alsop K, Gleeson M, Crook A, Plunkett L, Bowtell D, Mitchell G (2013) The responses of research participants and their next of kin to receiving feedback of genetic test results following participation in the Australian Ovarian Cancer Study. Genet Med 15:458–465
Hallowell N, Hall A, Alberg C, Zimmern R (2015) Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues. J Med Ethics 41:317–321
Haukkala A, Kujala E, Alha P, Salomaa V, Koskinen S, Swan H, Kääriäinen H (2013) The return of unexpected research results in a biobank study and referral to health care for heritable long QT syndrome. Public Health Genomics 16:241–250
Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, et al (2016) 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
Knoppers BM, Ma’n HZ, Sénécal K (2015) Return of genetic testing results in the era of whole-genome sequencing. Nat Rev Genet 16:553–559
Lahti E (2013) Above and beyond perseverance: an exploration of sisu
Lahtinen AM, Havulinna AS, Jula A, Salomaa V, Kontula K (2015) Prevalence and clinical correlates of familial hypercholesterolemia founder mutations in the general population. Atherosclerosis 238:64–69
Lewis KL, Hooker GW, Connors PD, Hyams TC, Wright MF, Caldwell S, Biesecker LG, and Biesecker BB (2016) Participant use and communication of findings from exome sequencing: a mixed methods study. Genet Med Off J Am Coll Med Genet
Lohn Z, Adam S, Birch PH, Friedman JM (2014) Incidental findings from clinical genome-wide sequencing: a review. J Genet Couns 23:463–473
Loud JT, Bremer RC, Mai PL, Peters JA, Giri N, Stewart DR, Greene MH, Alter BP, and Savage SA (2016) Research participant interest in primary, secondary, and incidental genomic findings. Genet Med
Mackley MP, Fletcher B, Parker M, Watkins H, and Ormondroyd E (2016) Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies. Genet Med
McBride KA, Hallowell N, Tattersall MH, Kirk J, Ballinger ML, Thomas DM, Mitchell G, Young M-A (2016) Timing and context: important considerations in the return of genetic results to research participants. J Community Genet 7:11–20
Newson AJ, Leonard SJ, Hall A, Gaff CL (2016) Known unknowns: building an ethics of uncertainty into genomic medicine. BMC Med Genet 9:57
van Oostrom I, Meijers-Heijboer H, Lodder LN, Duivenvoorden HJ, van Gool AR, Seynaeve C, van der Meer CA, Klijn JG, van Geel BN, Burger CW et al (2003) Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. J Clin Oncol 21:3867–3874
Ormondroyd E, Moynihan C, Watson M, Foster C, Davolls S, Ardern-Jones A, Eeles R (2007) Disclosure of genetics research results after the death of the patient participant: a qualitative study of the impact on relatives. J Genet Couns 16:527–538
Persky S, Kaphingst KA, Condit CM, McBride CM (2007) Assessing hypothetical scenario methodology in genetic susceptibility testing analog studies: a quantitative review. Genet Med 9:727–738
Press N, Fishman JR, Koenig BA (2000) Collective fear, individualized risk: the social and cultural context of genetic testing forbreast cancer. Nurs Ethics 7:237–249
Richards MPM, Ponder M, Pharoah P, Everest S, Mackay J (2003) Issues of consent and feedback in a genetic epidemiological study of women with breast cancer. J Med Ethics 29:93–96
Sanderson SC, Linderman MD, Suckiel SA, Diaz GA, Zinberg RE, Ferryman K, Wasserstein M, Kasarskis A, and Schadt EE (2015) Motivations, concerns and preferences of personal genome sequencing research participants: baseline findings from the HealthSeq project. Eur J Hum Genet
Sanderson SC, Linderman MD, Suckiel SA, Zinberg R, Wasserstein M, Kasarskis A, Diaz GA, Schadt EE (2017) Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project. Eur J Hum Genet 25:280–292
Schneider K, Zelley K, Nichols KE, Garber J (1993) Li-Fraumeni syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Ledbetter N, Mefford HC, Smith RJ et al (eds) GeneReviews(®). University of Washington, Seattle, Seattle
Shkedi-Rafid S, Dheensa S, Crawford G, Fenwick A, and Lucassen A (2014) Defining and managing incidental findings in genetic and genomic practice. J Med Genet. jmedgenet–2014
Vavolizza RD, Kalia I, Aaron KE, Silverstein LB, Barlevy D, Wasserman D, Walsh C, Marion RW, Dolan SM (2015) Disclosing genetic information to family members about inherited cardiac arrhythmias: an obligation or a choice? J Genet Couns 24:608–615
Wolf SM (2013) Return of individual research results & incidental findings: facing the challenges of translational science. Annu Rev Genomics Hum Genet 14:557
Wright MF, Lewis KL, Fisher TC, Hooker GW, Emanuel TE, Biesecker LG, Biesecker BB (2014) Preferences for results delivery from exome sequencing/genome sequencing: genome results preferences. Genet Med Off J Am Coll Med Genet 16:442
Funding
This study was funded by the Academy of Finland (grant 275033 to AH). Funding source had no involvement in study design, data collection, analysis, or interpretation, in writing the report, or in decision to submit the article for publication.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
Marleena Vornanen, Katja Aktan-Collan, Nina Hallowell, Hanna Konttinen, and Ari Haukkala declare that they have no conflict of interest. Helena Kääriäinen works part time as Clinical Geneticist in Docrates Clinic (a private cancer clinic), and as a Clinical Consultant in Blueprint Genetics laboratory. Helena Kääriäinen has received (September 2016) an honorarium from Orion Pharma (a presentation in a Symposium for Gynaecologists; the topic was genetic testing).
Ethical approval
All procedures followed the Declaration of Helsinki ethical guidelines on research with human participants. Informed consent was obtained from all participants for being included in the study. Study protocols were approved by the University of Helsinki Ethical Review Board in the Humanities and Social and Behavioural Sciences.
Rights and permissions
About this article
Cite this article
Vornanen, M., Aktan-Collan, K., Hallowell, N. et al. “I would like to discuss it further with an expert”: a focus group study of Finnish adults’ perspectives on genetic secondary findings. J Community Genet 9, 305–314 (2018). https://doi.org/10.1007/s12687-018-0356-6
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12687-018-0356-6