Genome sequencing can be used to actively search for genetic variants unrelated to the initial clinical question. While such ‘opportunistic genomic screening’ (OGS) has been proposed in the USA, a European discussion on the ethics of OGS is only starting. Should testing for selected ‘secondary findings’ be offered to patients who need genetic sequencing? Using focus groups and interviews, we explored views on OGS in adults and minors from three perspectives: policy experts (n = 9), health professionals (n = 8) and patient representatives (n = 7). A thematic approach was used to analyze the data. There was consensus that OGS should be evaluated in terms of the classical ‘screening’ framework, rather than as a form of ‘good patient care’. Accordingly, stakeholders agreed that professionals do not have a ‘fiduciary duty’ to look for secondary findings. Adding screening to clinical care was only conceivable with the patient’s informed consent. In general, stakeholders were reluctant towards OGS. Arguments for regarding OGS being premature included lack of evidence regarding its clinical utility, also in view of uncertainties regarding general population penetrance, and concerns about both its psychosocial impact and respect for autonomy. All groups agreed that OGS means unequal access, which was seen as problematic. Yet, despite their concerns, stakeholders felt that offering screening for certain actionable pathogenic variants with known high penetrance could potentially be valuable in certain contexts for both adults and minors. Pharmacogenetic variants were regarded as a category by itself, for which OGS could potentially be beneficial.
Subscribe to Journal
Get full journal access for 1 year
only $33.25 per issue
All prices are NET prices.
VAT will be added later in the checkout.
Tax calculation will be finalised during checkout.
Rent or Buy article
Get time limited or full article access on ReadCube.
All prices are NET prices.
Hayden E. Is the 1000 dollar genome for real? Nature News. 2014.
Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med. 2014;370:2418–25.
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.
Pujol P, Vande Perre P, Faivre L, Sanlaville D, Corsini C, Baertschi B, et al. Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations. Eur J Hum Genet. 2018;26:1732–42.
Isidor B, Julia S, Saugier-Veber P, Weil-Dubuc P-L, Bézieau S, Bieth E, et al. Searching for secondary findings: considering actionability and preserving the right not to know. Eur J Hum Genet. 2019;27:1481–4.
van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, et al. Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2013;21:580–4.
de Wert G, Dondorp W, Clarke A, Dequeker E, Cordier C, Deans Z, et al. Opportunistic genomic screening. recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2020. https://doi.org/10.1038/s41431-020-00758-w
Turner H, Jackson L. Evidence for penetrance in patients without a family history of disease: a systematic review. Eur J Hum Genet. 2020;28:539–50.
Green T, Thorogood N. Qualitative methods for health research. 2nd ed. London: SAGE; 2011.
VSOP. VSOP: voor zeldzame en genetische aandoeningen 2020. Available from: https://vsop.nl/.
Andermann A, Blancquaert I, Beauchamp S, Déry V. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ. 2008;86:317–9.
De Wert G, Dondorp W. Opportunistic genomic screening: ethical exploration. In: Tibben A, Biesecker B, editors. Clinical genome sequencing. Psychological considerations. London: Elsevier/AP; 2019:203–24.
Fereday J, Muir-Cochrane E. Demonstrating rigor using thematic analysis: a hybrid approach of inductive and deductive coding and theme development. Int J Qual Methods. 2006;103:358–366.
Wilson J, Jungner G. Principles and practice of screening for disease. World Health Organisation; 1968.
Houdayer F, Putois O, Babonneau ML, Chaumet H, Joly L, Juif C, et al. Secondary findings from next generation sequencing: psychological and ethical issues. Family and patient perspectives. Eur J Med Genet. 2019;62:103711.
Recommandations données additionnelles. Agence de la biomédicine; 2020.
Berg JS, Khoury MJ, Evans JP. Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet Med. 2011;13:499–504.
Saelaert M, Mertes H, Moerenhout T, De Baere E, Devisch I. Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study. BMC Med Ethics. 2020;21:9.
Mackley MP, Capps B. Expect the unexpected: screening for secondary findings in clinical genomics research. Br Med Bull. 2017;122:109–22.
Mackley MP, Fletcher B, Parker M, Watkins H, Ormondroyd E. Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies. Genet Med. 2017;19:283–93.
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.
The National Academies Collection: reports funded by National Institutes of Health. Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop. Washington (DC): National Academies Press (US).
Ethical and Legal Issues of Personalized Medicine (ELSI-PM) consortium. ZonMw project number 846003102.
Conflict of interest
The authors declare no competing interests.
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
About this article
Cite this article
Woudstra, A., Dondorp, W. & de Wert, G. Stakeholder views on opportunistic genomic screening in the Netherlands: a qualitative study. Eur J Hum Genet (2021). https://doi.org/10.1038/s41431-021-00828-7