Abstract
The present study represents an initial step in understanding diverse academic perspectives on the disclosure of secondary findings (SFs) from genetic research conducted in Africa. Using an online survey completed by 674 university students and academic staff in South Africa, we elicited attitudes towards the return of SFs. Latent class analysis (LCA) was performed to classify sub-groups of participants according to their overall attitudes to returning SFs. We did not find substantial differences in attitudes towards the return of findings between staff and students. Overall, respondents were in favour of the return of SFs in genetics research, depending on the type. The majority of survey respondents (80%) indicated that research participants should be given the option of deciding whether to have genetic SFs returned. LCA revealed that the largest group (53%) comprised individuals with more favourable attitudes to the return of SFs in genetics research. Those with less favourable attitudes comprised only 4% of the sample. This study provides important insights that may, together with further empirical evidence, inform the development of research guidelines and policy to assist healthcare professionals and researchers.
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Data availability
The datasets generated during and/or analysed during the current study are not publicly available but are available from the corresponding author on reasonable request.
References
Appelbaum PS, Waldman CR, Fyer A, Klitzman R, Parens E, Martinez J, Price WN II, Chung WK (2014) Informed consent for return of incidental findings in genomic research. Genet Med 16:367–373. https://doi.org/10.1038/gim.2013.145
Bentley AR, Callier S, Rotimi CN (2017) Diversity and inclusion in genomic research: why the uneven progress? J Community Genet 8:255–266. https://doi.org/10.1007/s12687-017-0316-6
Bishop CL, Strong KA, Dimmock DP (2016) Choices of incidental findings of individuals undergoing genome wide sequencing, a single center’s experience. Clin Genet 91:137–140. https://doi.org/10.1111/cge.12829
Boardman F, Hale R (2018) Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings. Mol Genet Genom Med 6:1079–1096. https://doi.org/10.1002/mgg3.485
Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T, Taylor S, van Karnebeek C, Zawati MH, Lauzon J, Armour CM, Canadian College of Medical Geneticists (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. https://doi.org/10.1136/jmedgenet-2015-103144
Buck MJ, Lieb JD (2004) ChIP-chip: Considerations for the design, analysis, and application of genome-wide chromatin immunoprecipitation experiments. Genomics 83:349–360. https://doi.org/10.1016/j.ygeno.2003.11.004
Choudhury A, Aron S, Botigué LR et al (2020) High-depth African genomes inform human migration and health. Nature 586:741–748. https://doi.org/10.1038/s41586-020-2859-7
Christenhusz GM, Devriendt K, Dierickx K (2013a) 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. https://doi.org/10.1038/ejhg.2012.130
Christenhusz GM, Devriendt K, Dierickx K (2013b) Disclosing incidental findings in genetics contexts: a review of the empirical ethical research. Eur J Med Genet 56:529–540. https://doi.org/10.1016/j.ejmg.2013.08.006
Dawkins HJS, Draghia-Akli R, Lasko P, Lau LPL, Jonker AH, Cutillo CM, Rath A, Boycott KM, Baynam G, Lochmüller H, Kaufmann P, le Cam Y, Hivert V, Austin CP, International Rare Diseases Research Consortium (IRDiRC) (2018) Progress in rare diseases research 2010-2016: An IRDiRC perspective. Clin Transl Sci 11:11–20. https://doi.org/10.1111/cts.12501
Ewuoso C (2016) A systematic review of the management of incidental findings in genomic research. BEOnline J West African Bioeth Train Progr 3:1–21. https://doi.org/10.20541/beonline.2016.0006
Formann AK, Kohlmann T (1996) Latent class analysis in medical research. Stat Methods Med Res 5:179–211. https://doi.org/10.1177/096228029600500205
Gourna EG, Armstrong N, Wallace SE (2016) Compare and contrast: a cross-national study across UK, USA and Greek experts regarding return of incidental findings from clinical sequencing. Eur J Hum Genet 24:344–349. https://doi.org/10.1038/ejhg.2015.132
Green ED, Gunter C, Biesecker LG, di Francesco V, Easter CL, Feingold EA, Felsenfeld AL, Kaufman DJ, Ostrander EA, Pavan WJ, Phillippy AM, Wise AL, Dayal JG, Kish BJ, Mandich A, Wellington CR, Wetterstrand KA, Bates SA, Leja D, Vasquez S, Gahl WA, Graham BJ, Kastner DL, Liu P, Rodriguez LL, Solomon BD, Bonham VL, Brody LC, Hutter CM, Manolio TA (2020) Strategic vision for improving human health at The Forefront of Genomics. Nature 586:683–692. https://doi.org/10.1038/s41586-020-2817-4
H3Africa (2018) H3Africa guideline for the return of individual genetic research findings. https://h3africa.org/wp-content/uploads/2018/05/H3AfricaFeedbackofIndividualGeneticResultsPolicy.pdf
Jackson L, Goldsmith L, O’Connor A, Skirton H (2012) Incidental findings in genetic research and clinical diagnostic tests: a systematic review. Am J Med Genet A 158A:3159–3167. https://doi.org/10.1002/ajmg.a.35615
Jackson M, Marks L, May GHW, Wilson JB (2018) The genetic basis of disease. Essays Biochem 62:643–723. https://doi.org/10.1042/EBC20170053
Kalia SS, Adelman K, Bale SJ 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 19:249–255. https://doi.org/10.1038/gim.2016.190
Khoury MJ (2017) No shortcuts on the long road to evidence-based genomic medicine. JAMA 318:27–28. https://doi.org/10.1001/jama.2017.6315
Klitzman R, Appelbaum PS, Fyer A, Martinez J, Buquez B, Wynn J, Waldman CR, Phelan J, Parens E, Chung WK (2013) Researchers’ views on return of incidental genomic research results: qualitative and quantitative findings. Genet Med 15:888–895. https://doi.org/10.1038/gim.2013.87
Lanza ST, Rhoades BL (2013) Latent class analysis: an alternative perspective on subgroup analysis in prevention and treatment. Prev Sci 14:157–168. https://doi.org/10.1007/s11121-011-0201-1
Lemke AA, Bick D, Dimmock D, Simpson P, Veith R (2013) Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study. Clin Genet 84:230–236. https://doi.org/10.1111/cge.12060
Mackley MP, Capps B (2017) Expect the unexpected: screening for secondary findings in clinical genomics research. Br Med Bull 122:109–122. https://doi.org/10.1093/bmb/ldx009
Mackley MP, 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 19:283–293. https://doi.org/10.1038/gim.2016.109
Manolio TA (2017) In Retrospect: A decade of shared genomic associations. Nature 546:360–361. https://doi.org/10.1038/546360a
Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P, EuroGentest, European Society of Human Genetics (2016) Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 24:2–5. https://doi.org/10.1038/ejhg.2015.226
Middleton A, Patch C, Wiggins J et al (2014) Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland). Eur J Hum Genet 22:955–956. https://doi.org/10.1038/ejhg.2013.301
Middleton A, Morley KI, Bragin E et al (2016) Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research. Eur J Hum Genet 24:21–29. https://doi.org/10.1038/ejhg.2015.58
Nielsen R, Akey JM, Jakobsson M, Pritchard JK, Tishkoff S, Willerslev E (2017) Tracing the peopling of the world through genomics. Nature 541:302–310. https://doi.org/10.1038/nature21347
Ormond KE, O’Daniel JM, Kalia SS (2019) Secondary findings: How did we get here, and where are we going? J Genet Couns 28:326–333. https://doi.org/10.1002/jgc4.1098
Saelaert M, Mertes H, Moerenhout T, de Baere E, Devisch I (2019) Criteria for reporting incidental findings in clinical exome sequencing – a focus group study on professional practices and perspectives in Belgian genetic centres. BMC Med Genet 12:123. https://doi.org/10.1186/s12920-019-0561-0
Stadler ZK, Thom P, Robson ME, Weitzel JN, Kauff ND, Hurley KE, Devlin V, Gold B, Klein RJ, Offit K (2010) Genome-wide association studies of cancer. J Clin Oncol 28:4255–4267. https://doi.org/10.1200/JCO.2009.25.7816
Strong KA, Zusevics KL, Bick D, Veith R (2014) Views of primary care providers regarding the return of genome sequencing incidental findings. Clin Genet 86:461–468. https://doi.org/10.1111/cge.12390
Thorogood A, Dalpé G, Knoppers BM (2019) Return of individual genomic research results: are laws and policies keeping step? Eur J Hum Genet 27:535–546. https://doi.org/10.1038/s41431-018-0311-3
Tucci S, Akey JM (2019) The long walk to African genomics. Genome Biol 20:130. https://doi.org/10.1186/s13059-019-1740-1
van El CG, Cornel MC, Borry P et al (2013) Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics. Eur J Hum Genet 21:580–584. https://doi.org/10.1038/ejhg.2013.46
Vears DF, Sénécal K, Clarke AJ, Jackson L, Laberge AM, Lovrecic L, Piton A, van Gassen KLI, Yntema HG, Knoppers BM, Borry P (2018) Points to consider for laboratories reporting results from diagnostic genomic sequencing. Eur J Hum Genet 26:36–43. https://doi.org/10.1038/s41431-017-0043-9
Weiner C (2014) Anticipate and communicate: Ethical management of incidental and secondary findings in the clinical, research, and direct-to-consumer contexts (December 2013 report of the Presidential Commission for the Study of Bioethical Issues). Am J Epidemiol 180:562–564. https://doi.org/10.1093/aje/kwu217
White MJ, Yaspan BL, Veatch OJ, Goddard P, Risse-Adams OS, Contreras MG (2019) Strategies for pathway analysis using GWAS and WGS data. Curr Protoc Hum Genet 100:e79. https://doi.org/10.1002/cphg.79
Wolf SM, Lawrenz FP, Nelson CA, Kahn JP, Cho MK, Clayton EW, Fletcher JG, Georgieff MK, Hammerschmidt D, Hudson K, Illes J, Kapur V, Keane MA, Koenig BA, LeRoy BS, McFarland EG, Paradise J, Parker LS, Terry SF, van Ness B, Wilfond BS (2008) Managing incidental findings in human subjects research: analysis and recommendations. J Law Med Ethics 36:211,219–211,248. https://doi.org/10.1111/j.1748-720X.2008.00266.x
Wright GE, Koornhof PG, Adeyemo AA et al (2013) Ethical and legal implications of whole genome and whole exome sequencing in African populations. BMC Med Ethics 14:21. https://doi.org/10.1186/1472-6939-14-21
Funding
This work was supported by The South African Medical Research Council Flagship Grant (RFA-UFSP-01-2013) through funding received from the South African National Treasury under its Economic Competitiveness and Support Package. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the South African Medical Research Council. In addition, this research was supported by the South African Medical Research Council Genomics of Brain Disorders Extramural Unit and the South African Research Chair in PTSD awarded to S Seedat and hosted by Stellenbosch University, funded by the DST and administered by NRF and the Faculty of Medicine and Health Sciences, and Stellenbosch University (Deputy Dean’s strategic fund for postdoctoral fellows).
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Soraya Seedat and The SHARED ROOTS Group contributed to the study conception and design. Material preparation, data collection, and analysis were performed by Jolynne Mokaya, Jacqui Steadman, Nicole Schuitmaker, Martin Kidd, Sian Hemmings, Helena Kuivaniemi and Georgina Spies. The manuscript was written by Georgina Spies and all authors commented on previous versions of the manuscript. All co-authors (Jolynne Mokaya, Jacqui Steadman, Nicole Schuitmaker, Martin Kidd, Sian Hemmings, Jonathan Carr, Helena Kuivaniemi, and Soraya Seedat read and approved the final manuscript.
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GS, JM, JS, NS, MK, SH, JC and HK have no competing interests to declare. SS has received pharmaceutical sponsorship from Pfizer, Astra Zeneca, Servier and Dr. Reddy’s, speaker’s honoraria from Pfizer and Lundbeck, and honoraria from the Discovery Foundation and Cambridge University Press. She has also received research funding from the National Institutes of Health and the National Research Foundation (https://www.nrf.ac.za/).
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Spies, G., Mokaya, J., Steadman, J. et al. Attitudes among South African university staff and students towards disclosing secondary genetic findings. J Community Genet 12, 171–184 (2021). https://doi.org/10.1007/s12687-020-00494-0
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DOI: https://doi.org/10.1007/s12687-020-00494-0