Skip to main content
SpringerLink
Log in

Public interest in unexpected genomic findings: a survey study identifying aspects of sequencing attitudes that influence preferences

  • Original Article
  • Published:
Journal of Community Genetics Aims and scope Submit manuscript

Abstract

We describe public preferences for unexpected genomic findings and explore predictors of preferences using an online survey in an Eastern Canadian province. Items measuring attitudes toward features of unexpected findings and genomic sequencing concerns were entered in logistic regression models predicting interest in unexpected findings. Very high levels of interest were observed in unexpected findings for treatable disorders and carrier results, with lesser interest in unexpected findings for non-treatable disorders and unclassified variants. Respondents who endorsed items measuring features of patient control and choice over their genomic data and testing options were 3–5 times more likely to be very interested in receiving unexpected findings. Respondents with high genomic sequencing concerns were less interested in the return of any unexpected result. Self-reported history of a genetic condition was significantly related to interest in receiving most categories of unexpected genomic information, while prior use of direct-to-consumer testing was significantly related only to interest in the return of unexpected genomic findings for disorders not currently treatable. Findings highlight the need for specific elements of information and transparency regarding the return of unexpected findings and can inform the development of patient-centered materials and return of results policies.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

Availability of data and material

A copy of the online survey is available by email from the corresponding author.

Code availability

Not applicable.

References

  • Abhyankar S, Etchegary H (2019) Rolling out genomic screening: the Newfoundland and Labrador public advisory council on genomics (PACG). BMJ Partnership in Practice Series. https://blogs.bmj.com/bmj/2019/12/17/rolling-out-genomic-screening/

  • Berg J, Khoury M, Evans J (2011) Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet Med 6:499–504

    Article  Google Scholar 

  • Biesecker L, Green R (2014) Diagnostic clinical genome and exome sequencing. N Eng J Med 370:2418–2425

    Article  Google Scholar 

  • Bijlsma RM, Wessels H, Wouters RHP et al (2018) Cancer patients’ intentions towards receiving unsolicited genetic information obtained using next-generation sequencing. Fam Cancer 17(2):309–316

    Article  CAS  Google Scholar 

  • Boardman F, Hale R (2015) Responsibility, identity and genomic sequencing: a comparison of published recommendations and patient perspectives on accepting or declining incidental findings. Mol Genet Genomic Med 6:1079–1096

    Article  Google Scholar 

  • Boycott K, Hartley T, Adam S et al (2015) The clinical application of genome-wide sequencing for monogenic diseases in Canada: position statement of the Canadian College of Medical Geneticists. J Med Genet 52:431–437

    Article  CAS  Google Scholar 

  • Brothers K, East K, Kelley et al (2017) Eliciting preferences on secondary findings: the preferences instrument for genomic secondary results. Genet Med 19(3):337–344

    Article  Google Scholar 

  • Bujang M, Saat N, Sidik T, Joo L (2018) Sample size guidelines for logistic regression from observational studies with large population: emphasis on the accuracy between statistics and parameters based on real life clinical data. Malays J Med Sci 25(4):122–130

    PubMed  PubMed Central  Google Scholar 

  • Burke W, Antommaria A, Bennett R et al (2013) Recommendations for returning genomic incidental findings? We need to talk! Genet Med 15:854–859

    Article  CAS  Google Scholar 

  • Clift K, Halverson C, Fiksdal A, Kumbamu A, Sharp R, McCormick J (2015) Patients’ views on incidental findings from clinical exome sequencing. Appl Transl Genomics 4:38–43

    Article  Google Scholar 

  • Dodson D, Goldenberg A, Davis M, Singer D, Tarini B (2015) Parent and public interest in whole-genome sequencing. Public Health Genomics 18(3):151–159

    Article  Google Scholar 

  • Etchegary H, Wilson B, Rahman P, Simmonds C, Pullman D (2020) Public interest in whole genome sequencing and information needs: an online survey study. Personal Med 17(4):136–146

    Article  Google Scholar 

  • Etchegary H, Winsor M, Power A, Simmonds C (2021) Public engagement with genomic medicine: a summary of town hall discussions. J Comm Genet 12(1):27–35

    Article  Google Scholar 

  • Genetic Alliance UK (2015) Genome sequencing: what do patients think? Patient Charter. https://www.geneticalliance.org.uk/media/1924/patient-charter-genome-sequencing-what-do-patients-think.pdf. Accessed 4 Nov 2021

  • Genome England (n.d.) What is a genome? https://www.genomicsengland.co.uk/the-100000-genomes-project/understanding-genomics/what-is-a-genome/ Accessed 3 November 2021

  • Goodman D, Bowen D, Wenzel et al (2018) The research participant perspective related to the conduct of genomic cohort studies: a systematic review of the quantitative literature. Trans Beh Med 8:119–129

    Article  Google Scholar 

  • Haga S, Burke W, Agans R (2013) Primary care physicians’ access to genetic specialists: an impediment to the routine use of genomic medicine? Genet Med 15(7):513–514

    Article  Google Scholar 

  • Hoell C, Wynn J, Rasmussen L, Marsolo K, Aufox S, Chung W et al (2020) Participant choices for return of genomic results in the eMERGE network. Genet Med 22:1821–1829

    Article  Google Scholar 

  • Kalia S, Adelman K, Bale S, Chung W, Eng C, Evans J, Herman G et al (2017) 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 19(2):249–55

    Article  Google Scholar 

  • Kaphingst K, Ivanovich J, Lyons S et al (2018) Preferences for learning different types of genome sequencing results among young breast cancer patients: role of psychological and clinical factors. Trans Beh Med 8:71–79

    Article  Google Scholar 

  • Mackley M, Fletcher B, Parker M, Watkins H, Ormondroyd E (2017) Stakeholder views on secondary findings in whole genome and whole exome sequencing: a systematic review of quantitative and qualitative studies. Genet Med 19(3):283–293

    Article  Google Scholar 

  • Mackley M, Blair E, Parker M, Taylor J, Watkins H, Ormondroyd E (2018) Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study. Eur J Hum Genet 26:652–659

    Article  Google Scholar 

  • McGuire AL, Oliver JM, Slashinski MJ et al (2011) To share or not to share: a randomized trial of consent for data sharing in genome research. Genet Med 13(11):948–955

    Article  CAS  Google Scholar 

  • McGuire A, Joffe S, Koenig B et al (2013) Point-counterpoint. Ethics and genomic incidental findings. Science 340:1047–1048

    Article  CAS  Google Scholar 

  • Miller DT, Lee K, Chung WK et al (2021) ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 23:1381–1390

    Article  Google Scholar 

  • National Human Genome Research Institute (n.d.) Frequently asked questions about pharmacogenomics https://www.genome.gov/27530645/faq-about-pharmacogenomics/ Accessed 11 Nov 2020

  • Nycum G, Avard D, Knoppers B (2009) Factors influencing intrafamilial communication of hereditary breast and ovarian cancer genetic information. Eur J Hum Genet 17(7):872–880

    Article  Google Scholar 

  • O’Daniel J, Haga S (2011) Public perspectives on returning genetic and genomic research results. Public Health Genomics 14(6):346–355

    Article  Google Scholar 

  • Ploug T, Holm S (2017) Clinical genome sequencing and population preferences for information about incidental findings – from medically actionable genes to patient actionable genes. PLOS One 12(7):e0179935

    Article  Google Scholar 

  • Sabour L, Sabour M, Ghorbian S (2017) Clinical applications of next-generation sequencing in cancer diagnosis. Pathol Oncol Res 23(2):225–234

    Article  CAS  Google Scholar 

  • Statista (2018) Frequency of Use of Facebook Products and Services in Canada as of March 2018, by Region https://www.statista.com/statistics/822150/canada-facebook-products-services-use-by-region/ Accessed 11 Nov 2020

  • Townsend A, Adam S, Birch PH, Lohn Z, Rousseau F, Friedman JM (2012) “I want to know what’s in Pandora’s box”: comparing stakeholder perspectives on incidental findings in clinical whole genome sequencing. Am J Med Genet 158A(10):2519–2525

    Article  Google Scholar 

  • Van EICG, Cornel M, Borry P et al (2013) ESHG public and professional policy committee. Whole genome sequencing in healthcare. Recommendations of the European Society of Human Genetics. Eur J Hum Genet 31(suppl 1):S1–S5

    Google Scholar 

  • Wolf S, Annas G, Elias S (2013) Point-counterpoint. Patient autonomy and incidental findings in clinical genomics. Science 340:1047–1048

    Article  Google Scholar 

  • Yu J, Crouch J, Jamal S, Tabor H, Bamshad M (2013) Attitudes of African Americans toward return of results from exome and whole genome sequencing. Am J Med Genet A 161A(5):1064–1072

    Article  Google Scholar 

  • Zhang SC, Bruce C, Hayden M, Rieder MJ (2014) Public perceptions of pharmacogenetics. Pediatrics 133(5):e1258–e1267

    Article  Google Scholar 

  • Zhang H, Klareskog L, Matussek A, Pfister M, Benson M (2019) Translating genomic medicine to the clinic: challenges and opportunities. Genome Med 11:9

    Article  Google Scholar 

  • Zoltick ES, Linderman MD, McGinniss MA et al (2019) Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium. Genome Med 11(1):10

    Article  Google Scholar 

Download references

Acknowledgements

We thank the survey respondents for their time and responses. We are also grateful to Dr. Brenda Wilson, Professor, Community Health and Humanities, Faculty of Medicine, Memorial University, for input on the survey design and content.

Funding

This research was supported by the Atlantic Canada Opportunities Agency, Business Development Program, St. John’s, NL, Canada, through a grant to Rahman.

Author information

Authors and Affiliations

  1. Faculty of Medicine, Memorial University, 300 Price Phillip Parkway, Craig L. Dobbin Centre for Genetics, Rm 4M210, St. John’s, NL, A1B 3V6, Canada

    Holly Etchegary

  2. Faculty of Medicine, Memorial University, 300 Price Phillip Parkway, Craig L. Dobbin Centre for Genetics, Rm 4M211, St. John’s, NL, A1B 3V6, Canada

    Daryl Pullman

  3. Health Research Unit, Faculty of Medicine, Memorial University, 300 Price Phillip Parkway, Craig L. Dobbin Centre for Genetics, 4M137, St. John’s, NL, A1B 3V6, Canada

    Charlene Simmonds

  4. Eastern Regional Health Authority, Memorial University and Rheumatologist, 300 Price Phillip Parkway, Craig L. Dobbin Centre for Genetics, Rm 4M205A, St. John’s, NL, A1B 3V6, Canada

    Proton Rahman

Authors
  1. Holly Etchegary
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Daryl Pullman
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Charlene Simmonds
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Proton Rahman
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

All authors contributed to the design and multiple reviews of the online survey, and all gave approval for the final version. All authors contributed to online survey advertising for recruitment. Data collection and analysis were performed by Holly Etchegary and Charlene Simmonds. The first draft of the manuscript was written by Holly Etchegary, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Holly Etchegary.

Ethics declarations

Ethics approval

This ethics approval was granted from the provincial Health Research Ethics Board in St. John’s, NL, Canada. (Ref # 2018.221). All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

Consent to participate

Informed consent was obtained from all respondents at the beginning of the online survey. Respondents could not begin the survey before reading the consent pages and ticking an appropriate check box. Consent was implied if respondents ticked the box and submitted a survey.

Consent for publication

Not applicable.

Conflict of interest

The authors declare no competing interests.

Additional information

Publisher's note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Etchegary, H., Pullman, D., Simmonds, C. et al. Public interest in unexpected genomic findings: a survey study identifying aspects of sequencing attitudes that influence preferences. J Community Genet 13, 235–245 (2022). https://doi.org/10.1007/s12687-022-00577-0

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12687-022-00577-0

Keywords

Search

Navigation