Essay About European Society Of Human Genetics And Genetic Testing

Genetic Testing in Asymptomatic Minors
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POLICY
Genetic testing in asymptomatic minors
Pascal Borry*,1, Gerry Evers-Kiebooms2, Martina C Cornel3, Angus Clarke4 and
Kris Dierickx1 on behalf of the Public and Professional Policy Committee (PPPC) of the
European Society of Human Genetics (ESHG)
1Research Fund Flanders, Centre for Biomedical Ethics and Law, Faculty of Medicine, Katholieke Universiteit Leuven,
Belgium; 2Psychosocial Genetics Unit University Hospitals, Center for Human Genetics, Katholieke Universiteit Leuven,
Belgium; 3Community Genetics, Department of Clinical Genetics/EMGO Institute, VU University Medical Center,
Amsterdam, The Netherlands; 4Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park,
Cardiff CF14 4XN, Wales, UK
Although various guidelines and position papers have discussed, in the past, the ethical aspects of genetic
testing in asymptomatic minors, the European Society of Human Genetics had not earlier endorsed any set
of guidelines exclusively focused on this issue. This paper has served as a background document in
preparation of the development of the policy recommendations of the Public and Professional Committee
of the European Society of Human Genetics. This background paper first discusses some general
considerations with regard to the provision of genetic tests to minors. It discusses the concept of best
interests, participation of minors in health-care decisions, parents responsibilities to share genetic
information, the role of clinical genetics and the health-care system in communication within the family.
Second, it discusses, respectively, the presymptomatic and predictive genetic testing for adult-onset
disorders, childhood-onset disorders and carrier testing.
European Journal of Human Genetics advance online publication, 11 March 2009; doi:10.1038/ejhg.2009.25
Although various guidelines and position papers have
discussed, in the past, the ethical aspects of genetic testing
in asymptomatic minors,1,2 the European Society of
Human Genetics had not earlier endorsed any set of
guidelines exclusively focused on this issue. This background
paper was preceded by an in-depth research on
the topic by Eurogentest.3 Eurogentest (
eurogentest.org) aims to develop the necessary infrastructure,
tools, resources, guidelines and procedures that will
structure, harmonize and improve the overall quality of
all the EU genetic services at the molecular, cytogenetic,
biochemical and clinical level.4 Attention has also been
paid to the provision of appropriate counselling related
to genetic testing, the education of patients and professionals,
as well as to the ethical, legal and social issues
surrounding testing. The focus of the ethics unit of
Eurogentest was oriented towards the study of the ethical
issues related to genetic testing in minors. This work
was the starting point for this background paper, which
has been prepared and supported by different types of
evidence. First, research has been performed on the
existing recommendations regarding predictive
genetic testing in minors1 and carrier testing,2 with the
intention of identifying areas of agreement and disagreement.
Second, the literature on medico-ethical and
medico-legal aspects of predictive genetic testing in
minors,5 carrier testing,6,7 the position of minors8 and
patient rights9 was studied. Third, a systematic literature
review was performed to gather information regarding the
attitudes of the different stakeholders (minors, health-care
professionals, parents and relatives of the affected
individuals) towards genetic testing in asymptomatic
minors.10,11 Fourth, the attitudes of European clinical
geneticists regarding genetic testing in asymptomatic
minors were gathered.12 – 14
*Correspondence: Dr P Borry, Research Fund Flanders, Centre for
Biomedical Ethics and Law, Faculty of Medicine, Katholieke Universiteit
Leuven, Kapucijnenvoer 35/3, 3000 Leuven, Belgium.
E-mail: [email protected]
European Journal of Human Genetics (2009), 1 – 9
& 2009 Macmillan Publishers Limited All rights reserved 1018-4813/09 $32.00
www.nature.com/ejhg
In 2007, contacts were made with the Public and
Professional Policy Committee of the European Society of
Human Genetics with the aim of developing policy
recommendations on the issue. On the basis of a decision
of the PPPC meeting during the ESHG conference in Nice
(June 2007), an ad hoc committee, consisting of Pascal
Borry (Eurogentest), Kris Dierickx (Eurogentest), Angus