The Child in the Paediatric Genetics Clinic


Children with unexplained problems in their development can be referred to genetics clinics; the number having such referrals is increasing as new technologies enhance the number of genetic variations that can be identified. From the perspective of the child and their family, this raises a number of issues social science research can help us to understand. In particular, issues such as understandings of kinship; feelings of parental responsibility; the uncertainties involved in diagnosis and the different ways the child is visualised through the stages of diagnosis. As new‐generation sequencing enters the clinic, it is important to consider how what happens to children and their families may both change and stay the same.

Key Concepts

  • Kinship can have both social and biological meaning.
  • Parents seek a genetic diagnosis to resolve social as well as medical problems.
  • A diagnosis that does not provide an answer to what the future holds for a child, or how they should be cared for, may not be seen by parents as a diagnosis.
  • Geneticists deploy both interpretative and communicative skills in their interactions with children and their families.
  • As new‐generation sequencing (NGS) enters clinical practice, it will generate social and ethical issues.
  • A small number of studies of NGS in clinical practice indicate some continuity in the challenges of managing diagnostic uncertainty for both geneticists and families.

Keywords: genetics; kinship; diagnosis; inheritance; visualisation; new‐generation sequencing

Figure 1. An example of the front cover of a journal made by a young child (aged 9) who had been referred to a genetics clinic due to developmental delay.


ACMG (2015) Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genetics in Medicine 17: 505–507.

Anderson JA, Meyn MS, Shuman C, et al. (2017) Parents perspectives on whole genome sequencing for their children: qualified enthusiasm? Journal of Medical Ethics 43 (8): 535–539.

Atkinson P, Parsons E and Featherstone K (2001) Professional constructions of family and kinship in medical genetics. New Genetics and Society 20 (1): 5–24.

Biesecker LG and Green RC (2014) Diagnostic clinical genome and exome sequencing. New England Journal of Medicine 370 (25): 2418–2425.

Buchbinder M and Timmermans S (2011) Medical technologies and the dream of the perfect newborn. Medical Anthropology 30 (1): 56–80.

Bush L (2014) In the best interest of the child: psychological and ethical reflections on traditions, contexts, and perspectives in pediatric clinical genomics. American Journal of Bioethics 14 (3): 16–18.

Carsten J (2004) After Kinship. Cambridge, UK: Cambridge University Press.

Carsten J (ed) (2000) Cultures of Relatedness. Cambridge, UK: Cambridge University Press.

Dimond R (2014a) Negotiating blame and responsibility in the context of a “de novo” mutation. New Genetics and Society 33 (2): 149–166.

Dimond R (2014b) Negotiating identity at the intersection of paediatric genetic medicine: the parent as facilitator, narrator and patient. Sociology of Health & Illness 36 (1): 1–14.

Featherstone K, Latimer J, Atkinson P, et al. (2005) Dysmorphology and the spectacle of the clinic. Sociology of Health & Illness 27 (5): 551–574.

Featherstone K, Atkinson P, Bharadwaj A, et al. (2006a) Risky Relations: Family Kinship and the New Genetics. Oxford, UK: Berg.

Featherstone K, Gregory M and Atkinson P (2006b) The moral and sentimental work of the clinic. In: Atkinson P, Glasner P and Greenslade H (eds) New Genetics, New Identities, pp. 101–119. London: Routledge.

Finkler K (2001) The kin in the gene ‐ the medicalization of family and kinship in American society. Current Anthropology 42 (2): 235–263.

Fitzgerald R (2008) Biological citizenship at the periphery: parenting children with genetic disorders. New Genetics and Society 27 (3): 251–266.

Foucault M (1975) The Birth of the Clinic. New York, NY: Vintage Books.

Kleiderman E, Knoppers BM, Fernandez CV, et al. (2014) Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases. Journal of Medical Ethics 40 (10): 691–696.

Latimer J (2007) Diagnosis, dysmorphology, and the family: knowledge, motility, choice. Medical Anthropology 26 (2): 97–138.

Latimer J (2013) The Gene, The Clinic and the Family. London: Routledge.

McKeever P and Miller KL (2004) Mothering children who have disabilities: a Bourdieusian interpretation of maternal practices. Social Science & Medicine 59 (6): 1177–1191.

McLaughlin J, Goodley D, Clavering EK, et al. (2008) Families Raising Disabled Children: Enabling Care and Social Justice. Basingstoke: Palgrave Macmillan.

McLaughlin J and Clavering EK (2011) Questions of kinship and inheritance in pediatric genetics: substance and responsibility. New Genetics and Society 30 (4): 399–413.

McLaughlin J and Clavering EK (2012) Visualising difference, similarity and belonging in paediatric genetics. Sociology of Health & Illness 34 (3): 459–474.

McLaughlin J (2014) Digital imagery and child embodiment in paediatric genetics: sources and relationships of meaning. Sociology 48 (2): 216–232.

McLaughlin J (2015) Family ties in genes and stories: the importance of value and recognition in the narratives people tell of family. The Sociological Review 63 (3): 626–643.

Morgan D (1996) Family Connections. Cambridge, UK: Polity Press.

Navon D (2011) Genomic designation: how genetics can delineate new, phenotypically diffuse medical categories. Social Studies of Science 41 (2): 203–226.

Novas C and Rose N (2000) Genetic risk and the birth of the somatic individual. Economy and Society 29 (4): 485–513.

PHG Foundation (2011) Next Steps in the Sequence: The Implications of Whole Genome Sequencing for Health in the UK. Cambridge, UK: PHG Foundation.

Raspberry K and Skinner D (2007) Experiencing the genetic body: parents' encounters with pediatric clinical genetics. Medical Anthropology 26 (4): 355–391.

Sabatello M and Appelbaum PS (2015) Honey, I sequenced the kids: preventive genomics and the complexities of adolescence. American Journal of Bioethics 15 (7): 19–21.

Skinner D, Raspberry KA and King M (2016) The nuanced negative: meanings of a negative diagnostic result in clinical exome sequencing. Sociology of Health & Illness 38 (8): 1303–1317.

Stivers T and Timmermans S (2017) The actionability of exome sequencing testing results. Sociology of Health & Illness 39 (8): 1542–1556.

Verhoeff B (2012) What is this thing called autism? A critical analysis of the tenacious search for autism's essence. BioSocieties 7 (4): 410–432.

Weeks J, Heaphy B and Donovan C (2001) Same Sex Intimacies: Families of Choice and Other Life Experiments. London: Routledge.

Whitmarsh I, Davis AM, Skinner D and Bailey DB (2007) A place for genetic uncertainty: parents valuing an unknown in the meaning of disease. Social Science & Medicine 65: 1082–1093.

Wouters RHP, Cornelis C, Newson AJ, et al. (2017) Scanning the body, sequencing the genome: dealing with unsolicited findings. Bioethics 31 (9): 648–656.

Further Reading

Blum LM (2007) Mother‐blame in the prozac nation ‐ raising kids with invisible disabilities. Gender & Society 21 (2): 202–226.

Cox SM and McKellin W (1999) ‘There's this thing in our family’: predictive testing and the construction of risk for Huntington Disease. Sociology of Health & Illness 21 (5): 622–646.

Franklin S and McKinnon S (eds) (2001) Relative Values: Reconfiguring Kinship Studies. Durham, NC: Duke University Press.

McLaughlin J (2005) Exploring diagnostic processes: social science perspectives. Archives of Disease in Childhood 90 (3): 284–287.

Rose N (2006) The Politics of Life Itself: Biomedicine, Power, and Subjectivity in the Twenty‐First Century. Princeton, NJ: Princeton University Press.

Smart C (2011) Families, secrets and memories. Sociology 45 (4): 539–553.

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
McLaughlin, Janice(May 2018) The Child in the Paediatric Genetics Clinic. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0028017]