Client-centred clinical genetic diagnostics
| DOI | https://doi.org/10.1108/AMHID-06-2017-0025 |
| Published date | 02 January 2018 |
| Date | 02 January 2018 |
| Pages | 1-10 |
| Author | Maarten Otter,Constance Stumpel,Therese van Amelsvoort |
| Subject Matter | Health & social care,Learning & intellectual disabilities |
Client-centred clinical genetic diagnostics
Maarten Otter, Constance Stumpel and Therese van Amelsvoort
Abstract
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.
Keywords Quality of life, Shared decision-making, Behavioural phenotype of genetic syndromes,
Clinical genetic diagnostics, Destigmatization, Physical examination in developmental delay
Paper type Conceptual paper
Introduction
We use the term “clinical genetic diagnostics”to include the spectrum of medical investigations
that are carried out in order to arrive at an aetiological diagnosis (causative, explanatory, etc.) in
people with a congenital abnormality or developmental delay such as a degree of intellectual
disability (ID) (Miller et al., 2010; Moeschler et al., 2014). The cause of ID could lie with genetic
factors such as trisomy 21 in Down syndrome or in environmental factors such as exposure to
alcohol in utero in foetal alcohol syndrome and prenatal viral infection. There is also the possibility
of a combination of genetic and environmental factors; finally, in some cases the underlying
cause is unknown.
The value of clinical genetic diagnostics is often –in our experience here in the Netherlands –an
agenda item discussed during multidisciplinary (child and adolescent) psychiatry consultations
(Hare et al., 2016)or during visits with the parents of a child (whomay be adolescent or adult) with
an ID (Makela et al., 2009). It may also come into question during sessions with married couples
with IDs who want to havechildren and who have been invited to talkabout the potential heritability
of their own intellectual disabilities. Questioning the value of these diagnostics could potentially
stem from the issue of whether the result would be relevant for the doctor, the patient, or both.
Received 20 June 2017
Revised 7 November 2017
Accepted 10 November 2017
© Maarten Otter,
Constance Stumpel and
Therese van Amelsvoort.
This Work has been published
previously in its current or
substantially similar form, I warrant
that I am the copyright holder of
the previously published Work,
and that the previously published
Work is fully attributed and
referenced.
This paper is adapted from
Client-centred klinisch-genetische
diagnostiek (Client-Centred Clinical
Genetic Diagnostics) by M. Otter,
C. Stumpel, and
T. van Amelsvoort In: Didden R.,
Troost P.W., Moonen X.M.,
Groen W.B. (Eds) Handboek
psychiatrie en lichte verstandelijke
beperking (Handbook of
Psychiatry and Mild Intellectual
Impairment), Utrecht: De
Tijdstroom; 2016. pp. 331-42.
The authors would like to thank
the Editor-in-chief and the
publishers for their cooperation.
The authors would also like to
thank T. van den Hazel (Clinical
Psychologist/Psychotherapist) and
J. Enserink (Psychotherapist/
Healthcare Psychologist) for
critically reading this paper.
The authors affiliations can be
found at the end of this article.
DOI 10.1108/AMHID-06-2017-0025 VOL. 12 NO. 1 2018, pp.1-10, Emerald Publishing Limited, ISSN 2044-1282
j
ADVANCESIN MENTAL HEALTH AND INTELLECTUAL DISABILITIES
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