Skip to main content
SpringerLink
Log in

Acceptability of, and Information Needs Regarding, Next-Generation Sequencing in People Tested for Hereditary Cancer: A Qualitative Study

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Next generation sequencing (NGS) for patients at risk of hereditary cancer syndromes can also identify non-cancer related mutations, as well as variants of unknown significance. This study aimed to determine what benefits and shortcomings patients perceive in relation to NGS, as well as their interest and information preferences in regards to such testing. Eligible patients had previously received inconclusive results from clinical mutation testing for cancer susceptibility. Semi-structured telephone interviews were subjected to qualitative analysis guided by the approach developed by Miles and Huberman. The majority of the 19 participants reported they would be interested in panel/genomic testing. Advantages identified included that it would enable better preparation and allow implementation of individualized preventative strategies, with few disadvantages mentioned. Almost all participants said they would want all results, not just those related to their previous diagnosis. Participants felt that a face-to-face discussion supplemented by an information booklet would be the best way to convey information and achieve informed consent. All participants wanted their information stored and reviewed in accordance with new developments. Although the findings indicate strong interest among these individuals, it seems that the consent process, and the interpretation and communication of results will be areas that will require revision to meet the needs of patients.

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

Similar content being viewed by others

References

  • Allyse, M., & Michie, M. (2013). Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. Trends in Biotechnology, 31(8), 439–441.

    Article  CAS  Google Scholar 

  • Berg, J. S., Khoury, M. J., & Evans, J. P. (2011). Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genetics in Medicine, 13(6), 499–504. doi:https://doi.org/10.1097/GIM.0b013e318220aaba.

    Article  Google Scholar 

  • Berg, J. S., Adams, M., Nassar, N., Bizon, C., Lee, K., Schmitt, C. P., & Evans, J. P. (2013). An informatics approach to analyzing the incidentalome. Genetics in Medicine, 15(1), 36–44. doi:https://doi.org/10.1038/gim.2012.112.

    Article  CAS  Google Scholar 

  • Biesecker, L. G., Mullikin, J. C., Facio, F. M., Turner, C., Cherukuri, P. F., Blakesley, R. B., & Green, E. D. (2009). The ClinSeq project: piloting large-scale genome sequencing for research in genomic medicine. Genome Research, 19, 1665–1674. doi:https://doi.org/10.1101/gr.092841.109.

    Article  CAS  Google Scholar 

  • Bloss, C. S., Ornowski, L., Silver, E., Cargill, M., Vanier, V., Schork, N. J., & Topol, E. J. (2010). Consumer perceptions of direct-to-consumer personalised genomic risk assessments. American Journal of Medical Genetics, 158A, 2519–2525. doi:https://doi.org/10.1097/GIM.0b013e3181eb51c6.

    Google Scholar 

  • Burke, W., Matheny Antommaria, A. H., Bennett, R., Botkin, J., Wright Clayton, E., Henderson, G. E., & Zimmern, R. (2013). Recommendations for returning genomic incidental findings? We need to talk! Genetics in Medicine, 15(11), 854–859. doi:https://doi.org/10.1038/gim.2013.113.

    Article  CAS  Google Scholar 

  • Facio, F. M., Brooks, S., Loewenstein, J., Green, S., Biesecker, L. G., & Biesecker, B. B. (2011). Motivators for participation in a whole-genome sequencing study: implications for translational genomics research. European Journal of Human Genetics, 19, 1213–1217. doi:https://doi.org/10.1038/ejhg.2011.123.

    Article  CAS  Google Scholar 

  • Facio, F. M., Eidem, H., Fisher, T., Brooks, S., Linn, A., Kaphingst, K. A., & Biesecke, B. B. (2013). Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study. European Journal of Human Genetics, 21, 261–265. doi:https://doi.org/10.1038/ejhg.2012.179.

    Article  Google Scholar 

  • Green, R. C., Berg, J. S., Berry, G. T., Biesecker, L. G., Dimmock, D. P., Evans, J. P., & Jacob, H. J. (2012). Exploring concordance and concordance for return of incidental findings from clinical sequencing. Genetics in Medicine, 14(4), 405–410. doi:https://doi.org/10.1038/gim.2012.21.

    Article  CAS  Google Scholar 

  • Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., et al. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15(7), 565–574.

    Article  CAS  Google Scholar 

  • Haga, S. B., O’Daniel, J. M., Tindall, G. M., Lipkus, I. R., & Agans, R. (2011). Survey of US public attitudes toward pharmacogenetic testing. Pharmacogenomics Journal. doi:https://doi.org/10.1038/tpj.2011.1.

    Article  Google Scholar 

  • Haga, S. B., Tindall, G., & O’Daniel, J. M. (2012). Professional perspectives about pharmacogenetic testing and managing ancillary findings. Genetic Testing and Molecular Biomarkers, 16(1), 21–24. doi:https://doi.org/10.1089/gtmb.2011.0045.

    Article  Google Scholar 

  • Hsieh, H. F., & Shannon, S. E. (2005). Three approaches to qualitative content analysis. Qualitative Health Research, 15(9), 1277–1288.

    Article  Google Scholar 

  • Jackson, L., Goldsmith, L., O’Connor, A., & Skirton, H. (2012). Incidental findings in genetic research and clinical diagnostic tests: a systematic review. American Journal of Medical Genetics Part A, 158A, 3159–3167.

    Article  Google Scholar 

  • Junghans, C., Feder, G., Hemingway, H., Timmis, A., & Jones, M. (2005). Recruiting patients to medical research: double blind randomised trial of opt-in versus opt-out strategies. British Medical Journal, 331(7522), 940. doi:https://doi.org/10.1136/bmj.38583.625613.AE.

    Article  Google Scholar 

  • Klee, E. W., Hoppman-Chaney, N. L., & Ferber, M. J. (2011). Expanding DNA diagnostic panel testing: is more better? Expert Review of Molecular Diagnostics, 11(7), 703–709. doi:https://doi.org/10.1586/erm.11.58.

    Article  CAS  Google Scholar 

  • Kohane, I. S., Masys, D. R., & Alunan, R. B. (2006). The incidentalome: a threat to genomic medicine. Journal of the American Medical Association, 296, 212–215. doi:https://doi.org/10.1001/jama.296.12.1466.

    Article  CAS  Google Scholar 

  • Lohn, Z., Adam, S., Birch, P., Townsend, A., & Friedman, J. (2013). Genetics professionals’ perspectives on reporting incidental findings from clinical genome-wide sequencing. American Journal of Medical Genetics Part A, 161A, 542–549. doi:https://doi.org/10.1002/ajmg.a.35794.

    Article  Google Scholar 

  • McBride, C., Koehly, L. M., Sanderson, S. C., & Kaphingst, K. A. (2010). The behavioural response to personalised genetic information: will genetic risk profiles motivate individuals and families to choose more healthful behaviors? Annual Review of Medicine, 31, 89–103. doi:https://doi.org/10.1146/annurev.publhealth.012809.103532.

    Google Scholar 

  • Meiser, B., & Dunn, S. M. (2000). Psychological impact of genetic testing for Huntington disease: an update of the literature for clinicians. Journal of Neurology, Neurosurgery and Psychiatry, 69, 574–578.

    Article  CAS  Google Scholar 

  • Meiser, B., Butow, P., Barratt, A., Suthers, G., Smith, M., Colley, A., & Tucker, K. (2000). Attitudes to genetic testing for breast cancer susceptibility in women at increased risk of developing hereditary breast cancer. Journal of Medical Genetics, 37, 472–476.

    Article  CAS  Google Scholar 

  • Metzker, M. L. (2010). Sequencing technologies- the next generation. Nature Reviews Genetics, 11, 31–46. doi:https://doi.org/10.1038/nrg2626.

    Article  CAS  Google Scholar 

  • Miles, M. B., Huberman, A. M., & Saldana, J. (2014). Qualitative data analysis: A methods sourcebook (3rd ed.). London: Sage.

    Google Scholar 

  • Miller, F. A., Hayeems, R. Z., Bytautas, J. P., Bedard, P. L., Ernst, S., Hirte, H., & Siu, L. L. (2014). Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care. European Journal of Human Genetics, 22, 391–395. doi:https://doi.org/10.1038/ejhg.2013.158.

    Article  Google Scholar 

  • Savage Bennette, C., Brown Trinidad, S., Fullerton, S. M., Patrick, D., Amendola, L., Burke, W., et al. (2013). Return of incidental findings in genomic medicine: measuring what patients value—development of an instrument to measure preferences for information from next-generation testing (IMPRINT). Genetics in Medicine, 15(11), 873–881. doi:https://doi.org/10.1038/gim.2013.63.

    Article  CAS  Google Scholar 

  • Schmidlen, T., Wawak, L., Kasper, R., Garcia-Espana, J., Christman, M., & Gordon, E. (2014). Personalised genomic results: analysis of informational needs. Journal of Genetic Counseling, 23, 578–587. doi:https://doi.org/10.1007/s10897-014-9693-8.

    Article  Google Scholar 

  • Shahmirzadi, L., Chao, E. C., Palmaer, E., Parra, M. C., Tang, S., & Farwell Gonzalez, K. D. (2013). Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing. Genetics in Medicine, 16, 395–399. doi:https://doi.org/10.1038/gim.2013.153.

    Article  Google Scholar 

  • Smith, S., Dixon, A., Trevena, L., Nutbeam, D., & McCaffery, K. (2009). Exploring patient involvement in healthcare decision making across different education and functional health literacy groups. Social Science and Medicine, 69, 1805–1812. doi:https://doi.org/10.1016/j.socscimed.2009.09.056.

    Article  Google Scholar 

  • Tercyak, K., O’Neill, S., Roter, D., & McBride, C. (2012). Bridging the communication divide: a role for health psychology in the genomic era. Professional Psychology: Research and Practice, 43(6), 568–575. doi:https://doi.org/10.1037/a0028971.

    Article  Google Scholar 

  • Townsend, A., Adam, S., Birch, P. H., Lohn, Z., Rousseau, F., & Friedman, J. M. (2012). “I want to know what’s in Pandora’s box”: comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing. American Journal of Medical Genetics Part A, 158A, 2519–2525. doi:https://doi.org/10.1002/ajmg.a.35554.

    Article  Google Scholar 

  • Wolf, S., Lawrence, F. P., Nelson, C. A., Kahn, J. P., Cho, M. K., Wright Clayton, E., & Wilfond, B. S. (2008). Managing incidental findings in human subjects research: Analysis and recommendations. Journal of Law, Medicine & Ethics, 36(2), 1–40. doi:https://doi.org/10.1111/j.1748-720X.2008.00266.x.

    Google Scholar 

Download references

Acknowledgments

We thank the participants who shared their views with us. We are very grateful to Dr Tony Roscioli and Associate Professor Kristine Barlow-Stewart for granting permission to use their ‘Information sheet on genomic testing’ (Online Resource 1); please request these authors’ permission prior to using the information sheet (tony.roscioli@sesiahs.health.nsw.gov.au). We also wish to thank Irena Kotchetkova for assistance with identifying eligible participants. Bettina Meiser was supported by a Cancer Institute New South Wales Career Development Fellowship and a Career Development Award Level 2 from the National Health and Medical Research Council. This study was supported with funding from the University of New South Wales Australia.

Conflict of Interest Statement

The authors declare no conflict of interest.

Human Studies and Informed Consent

Ethical approval for the study was obtained through the relevant Institutional Review Board, and informesd consent was obtained from all participants.

Animal Studies

No animal studies were carried out by the authors for this article.

Author information

Authors and Affiliations

  1. Psychosocial Research Group, Prince of Wales Clinical School, University of New South Wales Hospital, Low Cancer Research Building, C25, Level 4, Sydney, NSW, 2052, Australia

    Bettina Meiser, Ben Storey, Veronica Quinn & Belinda Rahman

  2. Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, NSW, 2031, Australia

    Lesley Andrews

Authors
  1. Bettina Meiser
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ben Storey
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Veronica Quinn
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Belinda Rahman
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Lesley Andrews
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Bettina Meiser.

Electronic supplementary material

Below is the link to the electronic supplementary material.

ESM 1

(DOC 149 kb)

ESM 2

(DOC 78 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Meiser, B., Storey, B., Quinn, V. et al. Acceptability of, and Information Needs Regarding, Next-Generation Sequencing in People Tested for Hereditary Cancer: A Qualitative Study. J Genet Counsel 25, 218–227 (2016). https://doi.org/10.1007/s10897-015-9861-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10897-015-9861-5

Keywords

Search

Navigation