Genetic Testing in Asymptomatic Minors

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 (http://www.

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: Pascal.Borry@med.kuleuven.be

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