Client-centred clinical genetic diagnostics

Maarten Otter*, Constance Stumpel, Therese van Amelsvoort

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Purpose - The purpose of this paper is to establish the value of clinical genetic diagnostics in the lives of people with an intellectual disability (ID), their families, and their primary and professional caregivers. It has been shown that psychologists are more likely to make use of the opportunities offered by clinical genetic diagnostics if they have seen the psychological benefits in their own practice. Moreover, this paper aims to promote the practice of informing people with ID, their families, and other caregivers regarding the current technological advances in genetic diagnostics, thereby allowing these patients to decide for themselves whether to utilise these opportunities. Design/methodology/approach - The authors report four case studies in which the psychosocial value to each patient is pivotal. Findings - In these four cases, it is clear the medical model can augment the social model by providing an interpretation of its meaningfulness in the lives of the people concerned. Research limitations/implications - Case studies alone can have limited scientific significance. This approach examining the significance of clinical genetic diagnosis should be studied further in larger groups. Practical implications - It is hoped that psychologists and other professional caregivers will become enthused about the value of clinical genetic diagnostics and will choose to discuss the option of referral for clinical genetic diagnostics with their patients more often. Social implications - People with an ID who are seeking mental health care, and their caregivers, should be given the opportunity to take part in the decision regarding whether to use clinical genetic diagnostics, which may even have a destigmatising effect. Originality/value - Quality of life may improve for people with an ID seeking mental healthcare and for their caregivers as well by opening up discussion regarding the opportunities presented by clinical genetic diagnostics. The fact that people are able to make their own choices based on their own considerations can have a destigmatising effect.
Original languageEnglish
Pages (from-to)1-10
Number of pages10
JournalAdvances in Mental Health and Intellectual Disabilities
Issue number1
Publication statusPublished - 1 Jan 2018


  • Quality of life
  • Shared decision-making
  • Behavioural phenotype of genetic syndromes
  • Clinical genetic diagnostics
  • Destigmatization
  • Physical examination in developmental delay
  • 47,XXY

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