Developments in genetics are rapidly changing the capacity and scope of screening practices. However, people with genetic conditions have been under-represented in the literature exploring their implications. This mixed methods study explores the attitudes of people with Spinal Muscular Atrophy (SMA) towards three different population-level genetic screening programmes for SMA: pre-conception, prenatal and newborn screening. Drawing on qualitative interviews (n = 15) and a survey (n = 82), this study demonstrates that more severely affected individuals with early-onset symptoms (Type II SMA), are less likely to support screening and more likely to view SMA positively than those with milder, later onset and/or fluctuating symptoms (Types III/ IV SMA). Indeed, this clinically milder group were more likely to support all forms of screening and view SMA negatively. This paper highlights that screening is a complex issue for people with genetic conditions, and the nature of impairment experiences plays a critical role in shaping attitudes.
American Congress of Obstetricians and Gynaecologists. (2009). Spinal Muscular Atrophy: ACOG Committee Opinion, 432, http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Spinal-Muscular-Atrophy
Asch, A., & Fine, M. (1988). Introduction: Beyond pedestals. In M. Fine & A. Asch (Eds.), Women with disabilities: Essays in psychology, culture and politics. Philadelphia: Temple University Press.
Barter, B., Hastings, R. P., Williams, R., Huws, J. C. (2016). Perceptions and discourses relating to genetic testing: Interviews with people with down syndrome. Journal of applied research in intellectual disabilities, 30(2), 1–12.
Benjamin, C., Colley, A., Donnai, D., Kingston, H., Harris, R., & Kerzin-Storrar, L. (1993). Neurofibromatosis type 1 (NF1): Knowledge, experience, and reproductive decisions of affected patients and families. The Journal of Gene Medicine, 30, 567–574. CrossRef
Boardman, F. (2013). Screening dilemmas: Disease, disability or something in-between? Bionews, 732http://www.bionews.org.uk/page_365114.asp.
Boardman, F. K. (2014) The expressivist objection to prenatal testing: The experiences of families living with genetic disease. Social Science & Medicine, 107, 18–25
Bury, M. (1982). Chronic illness as biographical disruption. Sociology of Health & Illness, 4(2), 167–181. CrossRef
Butchbatch, M. (2016). Copy number variations in the Survival Motor Neuron genes: Implications for spinal muscular atrophy and other neurodegenerative diseases, Frontiers in molecular biosciences, March 10. doi: 10.3389/fmolb.2016.00007.
Campbell, F., Biggs, K., Aldiss, S., O’Neill, P., Clowes, M., McDonagh, J., While, A., & Gibson, F. (2016). Transition of care for adolescents from paediatric services to adult health services. Cochrane Database of Systematic Reviews, 29, 4.
Cartwright, S. (2012). An evaluation of carrier screening for spinal muscular atrophy against the National Screening Committee Criteria. UK National Screening Committee. https://legacyscreening.phe.org.uk/policydb_download.php?doc=279. Accessed 18 June 2017.
Charmaz, K. (2008). Constructionism and the grounded theory. In J. A. Holstein & J. F. Gubrium (Eds.), Handbook of constructivist research. New York: The Guildford Press.
Cornelis, C., Aad, T., Dondorp, W., Van Haelst, M., Bredenoord, A. L., Knoers, N., Düwell, M., et al. (2016). Whole-exome sequencing in paediatrics- parents’ considerations toward return of unsolicited findings for their child. European Journal of Human Genetics, 24(12), 1618–1687. CrossRef
De Wolfe, P. (2002). Private tragedy in social context? Disability, illness and suffering. Disability & Society, 17(3), 255–267. CrossRef
Dragonas, T. (2001). Whose fault is it? Shame and guilt for the genetic defect. In E. Ettore (Ed.), Before birth: Understanding prenatal screening. Aldershot: Ashgate.
England, G. (2012). The 100,000 Genomes Projecthttps://www.genomicsengland.co.uk/the-100000-genomes-project/.
Glaser, B., & Strauss, A. (1967). The discovery of grounded theory: Strategies for qualitative research. New York: Walter De Gruyter Inc..
Green, J. M., Snowdon, C., & Statham, H. (1993). Pregnant women’s attitudes to abortion and prenatal screening. Journal of Reproductive and Infant Psychology, 11, 3–39. CrossRef
Hahn, H., & Belt, T. (2004). Disability identity and attitudes towards cure in a sample of disability activists. Journal of Health and Social Behaviour, 45, 453–464. CrossRef
Hallowell, N., Arden-Jones, A., Eeles, R., Foster, C., Lucassen, A., Moynihan, C. and M. Watson. 2006. ‘Guilt, Blame and Responsibility: Men’s Understanding of their Role in the Transmission of BRCA1/2 Mutations within their Family’ in Sociology of Health and Illness 28 (7) pp. 969–988.
Hauser-Cram, P., Erickson Warfield, M., Shonkoff, J. P., Wyngaarden Krauss, M., Sayer, A., Christofk Upshur, C., et al. (2001). Children with disabilities: A longitudinal study of child development and parent well-being. Monographs of the Society for Research in Child Development, 66(3), 115–126. CrossRef
Kenen, R. (1994). The human genome project: Creator of the potentially sick, potentially vulnerable and potentially stigmatised? In L. Robinson (Ed.), Life and death under high technology medicine. Manchester: Manchester University Press.
Kruitwagen-van Reenen, E., Wadman, R., Visser-Meiley, J., Van der Berg, L., Schröder, C., & Ludo van der Pol, W. (2016). Correlates of health related quality of life in adult patients with spinal muscular atrophy. Muscle & Nerve. doi: 10.1002/mus.25148.
Leo, M. C., Mcmullen, C., Wilfond, B. S., Lynch, F. L., Reiss, J. A., Gilmore, M. J., Himes, P., et al. (2016). Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing. American Journal of Medical Genetics, 170(3), 574–582. CrossRefPubMedPubMedCentral
Locock, L., Ziebland, S., & Dumelow, C. (2009). Biographical disruption, abruption and repair in the context of motor neurone disease. Sociology of Health & Illness, 31(7), 1043–1058. CrossRef
Maxwell, S. J., Kyne, G., Molster, C., Barker, N. M., Ormsby, J., & O’Leary, P. (2011). Perceptions of population cystic fibrosis prenatal and preconception carrier screening among individuals with cystic fibrosis and their family members. Genetic Testing and Molecular Biomarkers, 15(3), 159–164.
Nuffield Council on Bioethics. (2017). Non-invasive prenatal testing: an ethical review, http://nuffieldbioethics.org/wp-content/uploads/NIPT-ethical-issues-full-report.pdf.
Ottesen, E. (2017). ISS-N1 makes the first FDA-approved drug for spinal muscular atrophy. Translational Neuroscience, 8(1). doi: 10.1515/tnsci-2017-0001.
Parens, E., & Asch, A. (2000). The disability rights critique of prenatal testing: Reflections and recommendations. In E. Parens & A. Asch (Eds.), Prenatal testing and disability rights. Washington: Georgetown University Press.
Pei-Jung, L., Wei-Shi, Y., & Neumann, P. (2017). Willingness to pay for a newborn screening test for spinal muscular atrophy. Pediatric Neurology, 66, 69–75. CrossRef
Plano Clark, V. L., & Creswell, J. (2008). The mixed methods reader. London: Sage.
Plantinga, M., Birnie, E., Abbott, K., Sinke, R., Lucassen, A., Schuurmans, J. et al. (2016). Population-based preconception carrier screening: How potential users from the general population view a test for 50 serious diseases. European Journal of human genetics, 24(10), 1–7.
Pugh, C., Healey, S., Crane, J., & Young, D. (2000). Successful pregnancy and spinal muscular atrophy. Obstetrics and Gynaecology, 95(6), 1034. CrossRef
Reed, K. (2009). ‘It’s them faulty genes again’: Women, men and the gendered nature of genetic responsibility in prenatal blood screening. Sociology of Health & Illness, 31(3), 343–359. CrossRef
Shakespeare, T. (2005). The social context of individual choice, Wasserman, D., Bickenbach, J. Wachbroit, R. (eds) quality of life and human difference: Genetic testing, health care and disability, Cambridge: Cambridge University Press.
Shakespeare, T. (2006). Disability rights and wrongs. London: Routledge.
Shuttleworth, R., Wedgwood, N., & Wilson, N. (2012). The dilemma of disabled masculinity. Men and Masculinities, 15(2), 174–194. CrossRef
Sinason, V. (1992). Mental handicap and the human condition. London: Free Association Books.
Stern, S., Arnos, K., Murrelle, L., Oelrich Welch, K., Nance, W., & Pandya, A. (2002). Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss. The Journal of Gene Medicine, 39, 449–453. CrossRef
Stories, T. (2007). Understandig real life geneticshttp://tellingstories.nhs.uk/.
Sukenik-Halevy, R., Leil-Zoabi, U. A., Peled-Perez, L., Zlotogora, J., & Allon-Shalev, S. (2012). Compliance for genetic screening in the Arab population in Israel. The Israel Medical Association Journal, 14, 538–542. PubMed
UK National Screening Committee. (2013). The UK NSC recommendation on Spinal Muscular Atrophyhttps://legacyscreening.phe.org.uk/sma.
Von Gontard, A., Zerres, K., Backes, M., Laufersweiler-Plass, C., Wendland, C., Melchers, P., Lehmkuhl, G., & Rudnik-Schöneborn, S. (2002). Intelligence and cognitive function in children and adolescents with spinal muscular atrophy. Neuromuscular Disorders, 12(2), 130–136. CrossRef
Watson, N. (2002). ‘well I know this is going to sound very strange to you, but I don’t see myself as a disabled person’: Identity and disability. Disability & Society, 17(5), 509–527. CrossRef
Wells, D., Kaur, K., Griffo, J., Glassner, M., Taylor, J. C., Fragouli, E., & Munne, S. (2014). Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation. Journal of Medical Genetics, 51(8), 553–562. CrossRefPubMedPubMedCentral
Willis, G. B. (2005). Cognitive interviewing: A tool for improving questionnaire design. London: Sage. CrossRef
- Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy
Felicity K. Boardman
Philip J. Young
Frances E. Griffiths
- Springer US