The Child in the Paediatric Genetics Clinic

Abstract

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.
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Further Reading

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

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