European Journal of Human Genetics (2009), 1 – 9& 2009 Macmillan Publishers Limited All rights reserved 1018-4813/09 $32.00
www.nature.com/ejhg

POLICY

Genetic testing in asymptomatic minors
Pascal Borry*,1, Gerry Evers-Kiebooms2, Martina C Cornel3, Angus Clarke4 andKris Dierickx1 on behalf of the Public and Professional Policy Committee (PPPC) of theEuropean Society of Human Genetics (ESHG)
1

Research 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 Committeeof the European Society of Human Genetics. This background paper first discusses some generalconsiderations with regard to the provision of genetic tests to minors. It discusses the concept of bestinterests, 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 havediscussed, in the past, the ethical aspects of genetic testingin 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*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.besurrounding testing. The focus of the ethics unit ofEurogentest was oriented towards the study of the ethicalissues 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 ofevidence. First, research has been performed on theexisting
recommendations
regardingpredictive
genetic testing in minors1 and carrier testing,2 with theintention of identifying areas of agreement and disagreement. Second, the literature on medico – ethical andmedico – legal aspects of predictive genetic testing inminors,5 carrier testing,6,7 the position of minors8 andpatient rights9 was studied. Third, a systematic literature
review was performed to gather information regarding theattitudes of the different stakeholders (minors, health-care
professionals, parents and relatives of the affectedindividuals) towards genetic testing in asymptomaticminors.10,11 Fourth, the attitudes of European clinicalgeneticists regarding genetic testing in asymptomaticminors were gathered.12 – 14

Genetic testing in asymptomatic minors
P Borry et al

2
In 2007, contacts were made with the Public andProfessional Policy Committee of the European Society of
Human Genetics with the aim of developing policy
recommendations on the issue. On the basis of a decisionof the PPPC meeting during the ESHG conference in Nice
(June 2007), an ad hoc committee, consisting of Pascal
Borry (Eurogentest), Kris Dierickx (Eurogentest), Angus
Clarke, Gerry Evers-Kiebooms (PPPC) and Martina Cornel(PPPC), was created. This ad hoc committee met on 15
November 2007 to discuss a first draft of a background
paper and recommendations that were prepared by Pascal
Borry under the supervision of Kris Dierickx. A revised
version was discussed during a PPPC meeting in
Amsterdam (April 2008) and Barcelona (June 2008).
In order not to repeat issues that have been discussed
elsewhere, reference will often be made to the abovereferenced publications.

General considerations
The concept of ‘best interests’
It is a well-known rule of biomedical ethics that treatment
may only be carried out after a patient has been informedof the purpose, nature, risks and consequences of theintervention, and has freely consented to it.15
When talking about health-care decisions involving
children, the concept of ‘best interests’ takes a more central
position than the concept of informed consent. Parents are
responsible for their children and have the authority
to make decisions on their behalf. This is not different
from the context in which parents make decisions
regarding genetic testing of asymptomatic minors. This
responsibility includes the moral and legal right to makedecisions regarding the health of their children. In mostcases, as parents are those who care the most about
their children and know them best, they are expected tomake the best decisions for their children, guided by thestandard of ‘the best interest of the child’ (‘acting
to promote the good of the individual to the maximum
extent’).16 This concept is frequently used in the
ethical literature17 – 21 and in international documents,22,23
and it has been argued that it should be a standard in
health-care decisions involving children, even if themore general character of the concept often creates
difficulties in interpretation when applied to concrete
cases.24,25 (eg, the distinction between benefit in termsof physical gains or in terms of social, psychological andemotional gains is often a reason for conflict). Article 3.1 of
the Convention on the Rights of the Child stipulated
that ‘in all actions concerning children, whether
undertaken by public or private social welfare institutions,courts of law, administrative authorities or legislative
bodies, the best interests of the child shall be a primaryconsideration.’26
European Journal of Human Genetics

Participation of minors in health-care decisions
Although the ‘best interest standard’ is important in cases
in which children cannot participate in the decisionmaking process, this standard is becoming less adequate,
as children acquire more intellectual and psychosocial
capacities and can take part in decisions regarding theirhealth. Most medical – ethical literature27 on the subject
emphasizes that as soon as children are able to communicate and participate in decisions that affect them, theyshould be encouraged to participate in all aspects ofthe decision-making process. They should be properly
informed about the medical issues that affect them, shouldbe able to express their views, ask questions or communicate their worries.28 It is clear that during their development, children acquire cognitive, social and emotional
skills. However, intellectual capacity and emotional understanding do not necessarily develop in the same way. Thereis a huge individual and societal variation regarding the
moment when particular levels of competence areachieved. As a consequence from an ethical perspective, arule about competence that is solely based on age cannot
be satisfactory. When assessing competence, it is important
not to assess general competence, but to assess a patient’s
level of understanding in relation to a specific choice thathas to be made. ‘The nature and complexity of the decisionor task, the person’s ability to understand, at the time thedecision is made, the nature of the decision required andits implications, are all relevant. Thus the graver the impactof the decision, the commensurately greater the competence needed to make it.’29 Moreover, in the context ofgenetic testing, the opinion of minors should be taken into
consideration, as an increasingly determining factor inproportion to his or her age and degree of maturity. All
children do not develop in the same way. Children of thesame age may have a different level of development or
maturity. Therefore, the competence of children should beassessed on a case-by-case basis in order to take this reality
into consideration. Decision-making should include, to thegreatest extent possible, the assent or consent of the minor
who is involved. For ‘assent’, we understand that healthcare professionals should help ‘the patient achieve adevelopmentally appropriate awareness of the nature of
his or her condition’; ‘tell the patient what he or she can
expect with tests and treatment(s)’; make a ‘clinicalassessment of the patients understanding of the situationand the factors influencing how he or she is responding(including whether there is inappropriate pressure toaccept testing or therapy)’; and solicit ‘an expression of
the patient’s willingness to accept the proposed care.’30 As
children develop, they should gradually become theprimary guardians of personal health and the primarypartners in medical decision-making. Thus, they should be
able to provide consent themselves. This should include
from the health-care professionals, a ‘provision of information: patients should have explanations, in understandable

Genetic testing in asymptomatic minors
P Borry et al3language, of the nature of the ailment or condition; thenature of proposed diagnostic steps and/or treatment(s)and the probability of their success; the existence andnature of the risks involved; and the existence, potential
benefits, and risks of recommended alternative treatments(including the choice of no treatment)’; the ‘assessment of
the patient’s understanding of the above information’; the‘assessment, if only tacit, of the capacity of the patient or
surrogate to make the necessary decision(s)’; and the‘assurance, insofar as is possible, that the patient has the
freedom to choose among the medical alternatives without
coercion or manipulation.’30
The European legislation with regard to the legal
position of minors related to interventions in the healthfield is different in the various European nations.8 However, at the European level, the European Convention on
Human Rights and Biomedicine of the Council of Europe31
contains a specific provision – Article 6 – related to theprotection of persons who are unable to consent.
Paragraph 2 of this article, furthermore, stipulates: ‘Where,according to law, a minor does not have the capacity toconsent to an intervention, the intervention may only be
carried out with the authorisation of his or her representative or an authority or a person or body provided for bylaw. The opinion of the minor shall be taken into
consideration as an increasingly determining factor inproportion to his or her age and degree of maturity.’ Inview of the preservation of the autonomy of persons withregard to interventions affecting their health, the Explanatory Report, furthermore, states that ‘in certain situations which take account of the nature and seriousness of
the intervention as well as the minor’s age and ability tounderstand, the minor’s opinion should increasingly carry
more weight in the final decision’. According to the
Explanatory Report in some cases, it could therefore evenbe concluded that, the consent of a minor should benecessary, or at least sufficient for some interventions. In
this respect, a reference is made to Article 12 of the United
Nations Convention on the Rights of the Child, which
stipulates that ‘States Parties shall assure the child, who iscapable of forming his or her own views the right toexpress those views freely in all matters affecting the child,the views of the child being given due weight inaccordance with the age and maturity of the child’.
Therefore, in the context of genetic tests that can easily
be postponed until the minor can participate in thedecision-making process, this should be carried out asmuch as possible in order to enable the minor to realize his
decision-making capacities.

Parents’ responsibility to share genetic information:
prerequisites and difficulties
The communication of genetic information is often adifficult issue. It has been reported that the desire not tocause anxiety or alarm, geographical distances, family

conflicts, relational ruptures, adoption, generational gaps
or complex family relations have been reported as issues
that might make it more difficult to convey information torelatives or children.32 Moreover, the decision not toprovide relevant genetic information to relatives might
be based on, the one hand, a the deliberate choice of aperson not to disclose results33 or, on the other hand, theinability to communicate genetic risk information. In
addition, several empirical studies have shown that adults
may encounter difficulties in understanding and assessing
genetic risk,34,35 as well as in understanding the recessive
patterns of inheritance.36,37 Several studies38 – 40 havereported that parents may experience difficulties in theretention of test results, and other studies39,41 – 44 haveobserved a low recall of residual risk after a negative test in
the long term in spite of post-test counselling. Although amajority of the studies understand the concept andrelevance of carrier status, almost all studies report thatsome individuals experience difficulties in understanding
carrier status. Furthermore, different studies45 observedthat some parents continue to have difficulties regarding
information about the carrier status of their children.36,46
Mischler et al47 reported that a few families did notunderstand the meaning of being a carrier, and seemed tobelieve that their carrier children might develop cystic
fibrosis. Another study found that 1 year after the
carrier detection, through neonatal screening, 15% of thefamilies were not sure whether carrier status implied healthdifficulties.48 It is more than likely that these parents will
not be able to transmit accurate information totheir offspring regarding their genetic risk. Children inthese families might make the same erroneous assumptions
and believe that they are or will become sick. Parents might
initiate a socialization of the child into a sick role.36
Some evidence suggests that although parents are the bestplaced to inform their children of their genetic risk, someof them decline to tell their children or family
members,49 – 53 defer disclosure of genetic risk,49 encounter
difficulties in telling their children or family members54,55
or share the information in a way that results in manyfamily members not being fully aware of their risk ofbeing a carrier.37 Therefore, parents have an important
obligation to make a reasonable effort to understand thenature and implications of genetic information, toprovide appropriate information to their children and toshare their concerns and needs.56 They may assist theirchildren in contacting genetic services later for further
information and genetic counselling. In general, clinicalgenetic services and the health-care system may have an
important role in this communication process. Although
genetic services are not currently set up to recontact
individuals regarding genetic test results at a later age,57
they have a responsibility towards supporting parents inthe communication of genetic risk information to theirchildren.
European Journal of Human Genetics

Genetic testing in asymptomatic minors
P Borry et al

4
The role of clinical genetics and the health-care systemin the communication within the family
The role of genetic counselling in genetic services is mainly
to support, insofar as possible, decisions regarding genetic
testing. It has been emphasized that the goal of genetic
counselling is to provide accurate, full and unbiased
information to individuals and families. Non-directive
counselling does not mean just presenting informationand letting people make their own decisions without any
help or support. The counselling sessions should beoriented to empower individuals and families to maketheir own decisions. It should guide and help people towork towards their own decisions, a priori with regard to
reproductive decisions, and if adequate preventative interventions or therapies are not immediately available. It islinked to the original intent of genetic counselling torespect the profoundly personal nature of decisionmaking.58 It is clear that the counsellor is not completely
unbiased, but he should be aware of his personal values
and should not attempt to impose them on individuals orfamilies.59,60 However, genetic counsellors and clinicalgeneticists cannot be obliged to perform actions that are
opposed to good clinical practice. On the one hand, they
can refuse actions that are not in the best interests of achild (eg, childhood genetic testing for adult-onset disorders, see below). On the other hand, if parents refuse
genetic testing and eventually therapeutic actions or
preventive measures aimed at therapeutic interventions
that might be life saving for a child, health professionals
have the responsibility to use all means for promoting thebenefit of the child. Preliminary results of a recent
research61 showed that parents and children often felt thatminors were not engaged sufficiently in the decisionmaking process by suitably trained professionals. Parents
and children often felt their needs as a family were notconsidered, not only in relation to genetic testing but also
in dealing and coping with the outcomes. Parents were
often present during consultation about a minor, andparents and children were aware that parental anxieties
and concerns were more focused on by the health-care
professional than the child’s. This suggests that there is
probably a need for developing skills and expertise of
specialist health-care professionals in working specificallywith young people about making these decisions.

Presymptomatic and predictive genetic testing
Presymptomatic and predictive genetic testing makes it
possible to provide information regarding future healthrisks in asymptomatic persons. As presymptomatic or
predictive genetic testing may have far-reaching consequences for test applicants, their family members andsociety,62 concerns have always been raised about the
pre-test and post-test counselling process, the provisionof adequate information, the private and confidential
European Journal of Human Genetics

character of the test result, the psychosocial impact of atest63 and the responsibility towards blood relatives.64 – 66
An even more cautious approach has been envisaged when
considering such testing in children and adolescents. Thisoriginates from the fear that testing in childhood oradolescence could create devastating social, emotional,
psychosocial and educational consequences in the child orin the adolescent.67 – 69

Presymptomatic and predictive genetic testing for
adult-onset disorders
In the past, presymptomatic and predictive genetic testingin minors has been the subject of up to 27 guidelines andposition papers.1 Despite the extensive number of guidelines published and the variety of guideline developers, agreat unanimity has been observed with regard to the issue
of predictive genetic testing for adult-onset disorders. They
all clearly suggested that, when talking specifically about
predictive and presymptomatic tests for late-onset
disorders, such testing is only recommended when ‘established, effective, and important medical treatment’2,70 canbe offered or when testing ‘provides scope for treatment
which to any essential degree prevents, defers or alleviates
the onset of disease or the consequences of the development of the disease.’71 In a similar way, they emphasizethat presymptomatic and predictive genetic testing should
be delayed until adulthood, except for disorders for which
preventive actions (preventive surgery or early detection
strategies aimed at therapeutic interventions) could beinitiated before that time. A similar attitude was reported
in a recent survey of European clinical geneticists.14
Considering that minors do not have any prospect ofeffective treatment to benefit from in this case, it has beenquestioned whether non-medical benefits might provide
convincing arguments in favour of predictive genetic
testing in minors with adult-onset disorders.72 First, it has
been argued73 that persons who undergo genetic testing
and receive ‘good news’ may learn definitively, or with ahigh probability, that they will not develop the disease andthat those individuals who have inherited the mutation areable to anticipate the future and plan their lives. However,various concerns have been raised. It has been reported
that receiving good news may also lead to psychologicaland social distress and troubling family relations.74 A study
also showed that receiving such DNA results did not always
reassure the parents about the health situation of theirchildren.75 Even receiving favourable news and reassurance
might affect people’s self-image and the family dynamics.76
Second, it has been argued77 that by testing early in life,
this ‘information becomes part of personal identity. Whena child learns personal genetic information early in life, it
can be absorbed and accommodated into their identity.
When the information is disclosed later in life, it canconflict with their self-image and be very hard tointernalize and accept.’78 Studies have indeed shown that

Genetic testing in asymptomatic minors
P Borry et al5‘it is easier for a young person to deal with the news of risk
than it would be at an older age’79 However, it has beenemphasized that there is a difference between being told to
be at risk for a disease that exists within a family on the one
hand, and performing a genetic test for an adult-onset
disorder on the other.72 Third, various studies80 – 82 haveshown that parents might believe that detection in childhood might help prepare their children and themselves
psychologically for the future. Various parents who havebeen tested for a specific disease and who know that theirchildren are at risk, might argue that the uncertainty of notknowing is more burdensome than receiving a negative or
positive test result. Therefore, some parents consider thatthey should be able to consent to genetic testing in theirchildren for diseases that only have their onset in
adulthood. However, the risk to relatives, the absence ofan effective cure, the potential loss of health insurance,
the financial costs of testing and the inability to ‘undo’ theknowledge have been identified as reasons why adults
decide not to undergo predictive genetic tests for adultonset disorders.76 Considering that minors, far more thantheir parents, will be living with the repercussions of thetest results, there are good reasons that they should be able
to decide about the participation in such a genetic test.83
The presence of severe anxieties and uncertainties inparents about a potential genetic mutation might be anindication for further psychological support in order toaddress these emotions rather than a clear indication for
testing.

Presymptomatic and predictive genetic testing forpreventable or treatable childhood-onset disorders
In an earlier study,1 it has been reported that professionalguidelines and position papers recommended that thepresence of medical benefit should be the primary
justification of genetic testing in children and adolescents.
Therefore, from an ethical point of view, in the case of
preventable or treatable childhood-onset disorders, themost crucial question is not whether the test should bedone, but when it should be done. In this context,
various other guidelines have referred to the fact that
testing should be recommended when the results are of‘immediate’ relevance84,85 for their health or may offer‘timely’86 – 89 medical benefit.
Presymptomatic and predictive genetic testing forunpreventable or untreatable childhood-onset
disorders
Various positions have been advanced regarding the issue
of predictive genetic testing for unpreventable or untreatable childhood-onset disorders.1 On the basis of a medical
benefit argumentation, some66,70 have argued that theabsence of measures to prevent the disease or its complications or to treat the disease is a reason not to perform thistest. Although still acknowledging the importanceof medical benefit as a justification for predictive
genetic testing, it has been recognized that there arecircumstances in which not testing might create more
harm than testing.89 – 93 Therefore, it has been advanced
that ‘parents should have discretion to decide about
genetic testing for childhood diseases that are unpreventable and untreatable.’89 ‘Since, with unpreventable anduntreatable genetic diseases, there are both benefits andrisks to genetic testing, and neither the benefits or risks
clearly outweigh the other, parents generally should beallowed to decide about testing for their children.’89 For
these guidelines, testing is considered appropriate on
condition that ‘testing would be in the child’s bestinterests’.89 As best interests cannot be understood in thiscontext as a medical benefit, it should be understood here
as a psychological or social benefit.

Carrier testing
Borry et al2 reported that professional recommendations
were in agreement that carrier testing of minors in families
affected by autosomal recessive or X-linked disorders or bybalanced chromosomal rearrangements, ideally should be
deferred. As carrier testing has the potential of affecting thefuture reproductive prospects of a child, the studied
guidelines emphasized that the decision to test should bemade by the child when he reaches the age of maturity.
This view is based on the basic ethical principle ofinformed consent, by which an individual can freely andvoluntarily give, without external pressure, his consent tobe tested after being informed of the benefits, risks,
procedures and other pertinent information relating to
the carrier test. As carrier testing performed during childhood only affects the future of that child, not that of his
parents or guardians, the guidelines stated that it is wiser todefer testing until the child himself is able to give proper
informed consent, than to acquiesce to the wishes of his
parents or guardians to go forward with testing. The child’s
personal consent takes precedence over the wishes of third
parties, including parents, either to carry out or to refuse
genetic testing. Knowledge of carrier status critically
impacts future decisions regarding reproduction (eg, carrier
testing of partner, prenatal diagnosis, artificial insemination, pre-implantation genetic diagnosis, adoption, not tohave children). Some guidelines suggested that carrier
testing performed during childhood also denies the childof confidentiality, a right he would expect if tested as anadult. The majority of European clinical geneticists also
supports this position.12 This stance holds for autosomal
recessive disorders, in which the risk for offspring would
generally be o1%, and also for the X-linked disorders andbalanced chromosomal rearrangements carrier, in whichrisks for the offspring can be much higher (25% for
X-linked disorders, for instance).
European Journal of Human Genetics

Genetic testing in asymptomatic minors
P Borry et al

6However, various studies11 have shown that an important group of parents are in favour of carrier testing intheir children before the age of legal majority and someparents are even in favour of testing in early childhood.94
Arguments in favour of carrier testing on parental
request concentrate on the issues that learning one’s
carrier status while young may help their children adapt
to the carrier status, reduce the uncertainty about thecarrier status, avoid resentment from children later inlife and may be in accordance with the conviction thatparents have the right and the ability to make decisions
regarding their children’s health.95 An importantparental concern is that their children become aware of
their genetic risk before becoming sexually active andthat their child is able to chose a partner, informed of his
carrier status. Some parents consider that a good parent
should know as much as possible about their children, andthat it is to the emotional benefit of the child to grow up
knowing his or her carrier status before becoming sexuallyactive.96
A recent development that challenges the governing
professional recommendation is that DNA testing becomes more and more integrated in newborn screening
programmes. This recent development offers ethicalchallenges that were not present in the context of the
traditionally used biochemical testing methods for detecting inherited disorders. The use of DNA mutation analysis
might, in addition to identifying affected infants, also
inadvertently identify mutation carriers who will be
unaffected, but at risk of having children with the disorder
for which they underwent the screening. In the past,various newborn screening programmes often did notreport the identification of the detected carriers.97 Moreover, professional guidelines from the American Medical
Association and the German Society of Human Genetics
recommended that this information should not be disclosed to parents or to third parties. Rather, they recommended that this information should be discussed withthe child when he or she reaches reproductive age. The
guidelines from the American Medical Association provided instructions for maintaining the confidentiality ofthis genetic information, stating that this privileged
information should be kept in a separate portion of apatient’s medical record to prevent accidental disclosure.
However, no clear instructions are offered as to at what age
and by whom this information should be given. However,new screening programmes98,99 seem to orient practicemore and more into the direction that parents should be
told about this possibility before the test, and that results
should be given to the parents together with adequate
counselling by a health-care professional. This is in linewith recommendations offered by the British Medical
Association and by the American Academy of Pediatrics,
who had earlier already defended the concept that carrier
status results obtained incidentally (eg, after screening orEuropean Journal of Human Genetics

prenatal diagnosis) should be conveyed to the parents.
Therefore, it was reported that rigid and diametrically
opposed recommendations regarding the disclosure ofcarrier status in two different settings (ie, clinical setting
and screening context) is conflicting, and should beharmonized.7 Incidental discovery of carrier status in aparent may occur when investigating whether a possible
pathogenic finding in a child is a de novo occurrence, whenusing array-based genome investigations for CNVs. An
accidental discovery that a woman has a deletion affecting,eg, DMD or BRCA1 might occur. At present, it may notpossible to counsel all parents about this possibility
beforehand. With the increasing use of high-throughput
technology and the decreasing prices of genomic information, the problem of incidental findings needs to be
discussed urgently. For practical purposes, and before
consensus is reached on the reporting of incidental
findings, it may be advisable to ignore data that are not
relevant for the pathology in the patient.

Conclusions
Recent developments in genetics have created expanding
possibilities for genetic testing. Similar to many other fields
of human activity, larger choice means a larger responsibility. Genetic testing offers the possibility to know theindividual risk for a genetic disorder. When adult relativesof an affected individual are at risk for a disorder, they can
decide for themselves whether to undergo a genetic test. In
this background paper, we described that those health-caredecisions that affect minors should be considered withspecial caution. A great unanimity has been reported insituations, in which predictive genetic testing might leadto an established and effective medical treatment orprovides the possibility of preventive actions that can beinitiated before the onset of the disorder. As soon as
minors, in proportion to their age and degree of maturity,
are able to participate in the decision-making, theiropinion should be taken increasingly into consideration.
In respect of national legislation, minors should be able todecide personally regarding a genetic test when they are
well informed, have an adequate understanding of the test
and its potential consequences, have the capacity to makethis decision, are not exposed to external pressure and have
had appropriate counselling. This background paper
concisely reviews the major discussions with regard to
predictive genetic testing for adult-onset disorders, preventable or treatable childhood-onset disorders, unpreventable or untreatable childhood-onset disorders and carrier
testing.

Acknowledgements
Part of this contribution was supported by the Eurogentest Network of
Excellence of the EU, FP6-512148.

Genetic testing in asymptomatic minors
P Borry et al

7Members of the PPPC in 2007 – 2008 were:
Martina Cornel, chair, MD, Epidemiologist, Professor ofCommunity Genetics and Public Health Genomics, Departmentof Clinical Genetics/EMGO Institute, VU University Medical
Center, Amsterdam, The Netherlands; Gerry Evers-Kiebooms
PhD, Psychologist, Psychosocial Genetics Unit University Hospitals, Katholieke Universiteit Leuven, Belgium; Ségolène Aymé
MD, Medical Geneticist and Epidemiologist, Project Leader of
ORPHANET, INSERM, Paris, France; Suzanne Braga MD, Medical
Geneticist, Psychotherapist, Family therapist and counselor,
SGMG/SSGM, Bern, Switzerland; Franca Dagna Bricarelli Professor, Human Genetics Laboratory, Galliera Hospital, Genoa, Italy;
Shirley Hodgson Professor of Cancer Genetics, Honorary Consultant in Clinical Genetics, Department of Clinical Genetics, St
George’s Hospital, University of London, London, UK; Gyorgy
Kosztolany Professor, Director of the Department of Medical
Genetics, University of Pécs, Hungary; Jan Lubinski, MD, PhD,
Professor, Department of Genetics and Pathology, International
Hereditary Cancer Center, Pomeranian Medical University,
Szczecin, Poland; Meral Özgüc, Professor, Department of Medical
Biology, Faculty of Medicine, Hacettepe University Ankara,
Turkey; Christine Patch PhD, RN, Consultant Genetic Counsellor
and Manager, Guys and St Thomas’ NHS Foundation Trust,
London, UK; Jorge Sequeiros MD, Professor in Medical Genetics,
Head of the Department of Human Genetics, University of Porto,
Porto, Portugal; Lisbeth Tranebjaerg MD, PhD, Professor in
Genetic Audiology, Department of Audiology, H:S Bispebjerg
Hospital and Wilhelm Johannsen Centre of Functional
Genomics, University of Copenhagen, Denmark; Veronica van
Heyningen Dphil, FRS, FRSE, FMedSci, Honorary Professor of
Edinburgh University, MRC Human Genetics Unit, Western
General Hospital, Edinburgh, UK

References
1 Borry P, Stultiens L, Nys H, Cassiman JJ, Dierickx K: Presymptomatic and predictive genetic testing in minors: a systematic
review of guidelines and position papers. Clin Genet 2006; 70:
374 – 381.
2 Borry P, Schotsmans P, Fryns JP, Dierickx K: Carrier testing inminors: a systematic review of guidelines and positions statements. Eur J Hum Genet 2006; 14: 133 – 138.
3 Hayhurst R, Cassiman JJ: EuroGentest standing up to scrutiny first year demonstrates good progress harmonizing community
approaches. J Appl Genet 2006; 47: 5 – 7.
4 Cassiman JJ: EuroGentest - a European Network of Excellence
aimed at harmonizing genetic testing services. Eur J Hum Genet
2005; 13: 1103 – 1105.
5 Borry P, Fryns JP, Dierickx K: Predictive genetic testing inchildren. A clinical-ethical analysis; in de Bouvet A, Boitte P,
Aiguier G (eds): Questions éthique en médicine predictive.
Montrouge, Editions John Libbey Eurotext, 2006, pp 89 – 98.
6 Borry P, Dierickx K: Carrier testing for congenital adenal
hyperplasia: ethical issues. Cares 2007; 6: 16 – 18.
7 Borry P, Nys H, Dierickx K: Ethics watch – carrier testing inminors: conflicting views. Nat Rev Genet 2007; 8: 828.
8 Stultiens L, Goffin T, Borry P, Dierickx K, Nys H: Minors andinformed consent: a comparative approach. Eur J Health Law
2007; 14: 21 – 46.
9 Nys H, Stultiens L, Borry P, Goffin T, Dierickx K: Patient rights in
EU member states after the ratification of the convention onhuman rights and biomedicine. Health Policy 2007; 83: 223 – 235.
10 Borry P, Stultiens L, Nys H, Dierickx K: Attitudes towards
predictive genetic testing in minors for familial breast cancer: asystematic review. Crit Rev Oncol Hematol 2007; 64: 173 – 181.

11 Borry P, Schotsmans P, Fryns JP, Dierickx K: Attitudes ofminors, parents and health professionals towards carrier
testing in minors: a systematic review. Genet Couns 2005; 16:341 – 352.
12 Borry P, Goffin T, Nys H, Dierickx K: Attitudes regarding carrier
testing in incompetent children. A survey of European clinicalgeneticists. Eur J Hum Genet 2007; 15: 1211 – 1217.
13 Borry P: Minors and informed consent in carrier testing. A surveyof European clinical geneticists. J Med Ethics 2008; 34: 370 – 374.
14 Borry P, Goffin T, Nys H, Dierickx K: Attitudes regarding
predictive genetic testing in minors. A survey of European
clinical geneticists. Am J Med Genet C Semin Med Genet 2008;
148C: 78 – 83.
15 Andorno R: The Oviedo Convention: a European framework at
the intersection of human rights and health law. J Int Biotechnol
Law 2005; 2: 133 – 143.
16 Buchanan AE, Brock DW: Deciding for Others. Cambridge:
University Press, 1989.
17 Dawson A: The determination of the best interests in relation tochildhood immunisation. Bioethics 2005; 19: 72 – 89.
18 Downie RS, Randall F: Parenting and the best interests of minors.
J Med Philos 1997; 22: 219 – 231.
19 Ross LF: Health care decision making by children. Is it in theirbest interest? Hastings Cent Rep 1997; 27: 41 – 45.
20 Spence K: The best interest principle as a standard for decision
making in the care of neonates. J Adv Nurs 2000; 31: 1286 – 1292.
21 Trau JM, McCartney JJ: In the best interest of the patient.
Applying this standard to healthcare decision making must be
done in a community context. Health Prog 1993; 74: 50 – 56.
22 Charter of Fundamental Rights of the European Union, http://
www.europarl.europa.eu/charter/pdf/text_en.pdf, 2000.
23 Universal Declaration on the Human Genome and Human Rights;
Unesco, http://portal.unesco.org/shs/en/ev.php-URL_ID ¼ 1881&
URL_DO ¼ DO_TOPIC&URL_SECTION ¼ 201.html, 1997.
24 Kopelman LM: The best-interests standard as threshold, ideal,
and standard of reasonableness. J Med Philos 1997; 22: 271 – 289.
25 Kopelman LM: Children and bioethics: uses and abuses of thebest-interests standard. J Med Philos 1997; 22: 213 – 217.
26 United Nations. Convention on the Rights of the Child, http://
www.unhchr.ch/html/menu3/b/k2crc.htm, 1989.
27 Alderson P, Montgomery J: Health Care Choices: Making Decisions
with Children. London: Institute for Public Policy Research, 1996.
28 Royal College of Psychiatrists Report: Appendix 2 – Children’s Levelof Understanding of Medical Decisions; Guidance for Researchersand for Ethics Committees on Psychiatric Research Involving Human
Participants. London: The Royal College of Psychiatrists, 2001.
29 British Medical Association: Consent, Rights and Choices in HealthCare for Children and Young People. London: BMJ Books, 2001.
30 Informed consent, parental permission, and assent in pediatricpractice: Committee on Bioethics, American Academy of
Pediatrics. Pediatrics 1995; 95: 314 – 317.
31 Council of Europe. Convention for the Protection of Human
Rights and Dignity of the Human Being with regard to theapplication of Biology and Medicine: Convention on Human
Rights and Biomedicine. Oviedo, Council of Europe, 1997.
32 Clarke A, Richards M, Kerzin-Storrar L et al: Genetic professionals;
reports of nondisclosure of genetic risk information withinfamilies. Eur J Hum Genet 2005; 13: 556 – 562.
33 Loud JT, Weissman NE, Peters JA et al: Deliberate deceit of family
members: a challenge to providers of clinical genetics services.
J Clin Oncol 2006; 24: 1643 – 1646.
34 Fanos JH: Developmental tasks of childhood and adolescence:
implications for genetic testing. Am J Med Genet 1997; 71 (1):22 – 28.
35 Denayer L, Welkenhuysen M, Evers-Kiebooms G, Cassiman JJ,
Van den BH: Risk perception after CF carrier testing and impact of
the test result on reproductive decision making. Am J Med Genet
1997; 69: 422 – 428.
36 Fanos JH, Johnson JP: Perception of carrier status by cystic fibrosis
siblings. Am J Hum Genet 1995; 57: 431 – 438.

European Journal of Human Genetics

Genetic testing in asymptomatic minors
P Borry et al

8
37 Denayer L, De Boeck K, Evers-Kiebooms G, Van den BH: Thetransfer of information about genetic transmission to brothers
and sisters of parents with a CF-child. Birth Defects Orig Artic Ser
1992; 28: 149 – 158.
38 Axworthy D, Brock DJ, Bobrow M, Marteau TM: Psychologicalimpact of population-based carrier testing for cystic fibrosis:
3-year follow-up. UK Cystic Fibrosis Follow-Up Study Group.
Lancet 1996; 347: 1443 – 1446.
39 Bekker H, Modell M, Denniss G et al: Uptake of cystic fibrosis
testing in primary care: supply push or demand pull? BMJ 1993;
306: 1584 – 1586.
40 Bekker H, Denniss G, Modell M, Bobrow M, Marteau T: The
impact of population based screening for carriers of cystic
fibrosis. J Med Genet 1994; 31: 364 – 368.
41 Watson EK, Mayall E, Chapple J et al: Screening for carriers ofcystic fibrosis through primary health care services. BMJ 1991;
303: 504 – 507.
42 Mennie ME, Gilfillan A, Compton M et al: Prenatal screening forcystic fibrosis. Lancet 1992; 340: 214 – 216.
43 Callanan NP, Cheuvront BJ, Sorenson JR: CF carrier testing in ahigh risk population: anxiety, risk perceptions, and reproductiveplans of carrier by ‘non-carrier’ couples. Genet Med 1999; 1:
323 – 327.
44 Marteau TM, Michie S, Miedzybrodzka ZH, Allanson A: Incorrect
recall of residual risk three years after carrier screening for cystic
fibrosis: a comparison of two-step and couple screening. Am J
Obstet Gynecol 1999; 181: 165 – 169.
45 Fanos JH, Mackintosh MA: Never again joy without sorrow: theeffect on parents of a child with ataxia-telangiectasia. Am J Med
Genet 1999; 87: 413 – 419.
46 Fanos JH, Nickerson BG: Long-term effects of sibling death duringadolescence. J Adolesc Res 1991; 6: 70 – 82.
47 Mischler EH, Wilfond BS, Fost N et al: Cystic fibrosis newborn
screening: impact on reproductive behavior and implications forgenetic counseling. Pediatrics 1998; 102: 44 – 52.
48 Ciske DJ, Haavisto A, Laxova A, Rock LZ, Farrell PM: Genetic
counseling and neonatal screening for cystic fibrosis: anassessment of the communication process. Pediatrics 2001; 107:
699 – 705.
49 Forrest K, Simpson SA, Wilson BJ et al: To tell or not to tell:barriers and facilitators in family communication about genetic
risk. Clin Genet 2003; 64: 317 – 326.
50 Varekamp I, Suurmeijer TP, Brocker-Vriends AH et al: Carrier
testing and prenatal diagnosis for hemophilia: experiences andattitudes of 549 potential and obligate carriers. Am J Med Genet
1990; 37: 147 – 154.
51 Varekamp I, Suurmeijer T, Brocker-Vriends A, Rosendaal FR:
Hemophilia and the use of genetic counseling and carrier
testing within family networks. Birth Defects Orig Artic Ser 1992;
28: 139 – 148.
52 Varekamp I, Suurmeijer TP, Rosendaal FR, Brocker-Vriends AH:
The use of preventive health care services: carrier testingfor the genetic disorder haemophilia. Soc Sci Med 1993; 37:
639 – 648.
53 Sorenson JR, Jennings-Grant T, Newman J: Communication
about carrier testing within hemophilia A families. Am J Med
Genet 2003; 119C: 3 – 10.
54 Fanos JH, Johnson JP: Barriers to carrier testing for adult cystic
fibrosis sibs: the importance of not knowing. Am J Med Genet
1995; 59: 85 – 91.
55 Duster T: The social consequences of genetic disclosure; in:
Carson RA, Rothstein MA (eds): Behavioral Genetics. The Clash of
Culture and Biology. London: John Hopkins University Press, 1999,
pp 172 – 188.
56 Sharpe NF: The duty to recontact: benefit and harm. Am J Hum
Genet 1999; 65: 1201 – 1204.
57 Borry P, Dierickx K: What are the limits of the duty of care? Thecase of clinical genetics. Per Med 2008; 5: 101 – 104.
58 Biesecker BB: Future directions in genetic counseling: practical andethical considerations. Kennedy Inst Ethics J 1998; 8: 145 – 160.

European Journal of Human Genetics

59 Elwyn G, Gray J, Clarke A: Shared decision making andnon-directiveness in genetic counselling. J Med Genet 2000; 37:
135 – 138.
60 Oduncu FS: The role of non-directiveness in genetic counseling.
Med Health Care Philos 2002; 5: 53 – 63.
61 Metcalfe A: Consultation on testing in minors recommendations,personal communication, 2008.
62 Harper P, Clarke A: Genetics, Society and Clinical Practice. Oxford:
Bios, 1997.
63 Codori AM, Zawacki KL, Petersen GM et al: Genetic testing forhereditary colorectal cancer in children: long-term psychologicaleffects. Am J Med Genet A 2003; 116A: 117 – 128.
64 Allan D: Ethical boundaries in genetic testing. CMAJ 1996; 154:
241 – 244.
65 Godard B, Kaariainen H, Kristofferson U et al: Provision of
Genetic Services in Europe - current practices and issues. Eur J
Hum Genet 2003; 11(Suppl 2): S13 – S48.
66 European Society of Human Genetics: Provision of Genetic
services in Europe - current practices and issues. Eur J Hum Genet
2003; 11(Suppl 2): S2 – S4.
67 Clarke A: The Genetic Testing of Children. Oxford: Bios, 1998.
68 Clarke A, Flinter F: The genetic testing of children: aclinical perspective, in: Marteau T, Richards M (eds): The
Troubled Helix: Social and Psychological Implications of the New
Human Genetics. Cambridge: Cambridge University Press, 1996,
pp 164 – 176.
69 Clarke A: The genetic testing of children. J Med Genet 1995; 32:
492.
70 German Society of Human Genetics: Statement on genetic
diagnosis in children and adolescents, http://www.gfhev.de/en/gfh/,
1995.
71 Danish Council of Ethics: Genetic Investigation of Healthy
Subjects - Report on Presymptomatic Gene Diagnosis. http://
www.etiskraad.dk/sw293.asp, 2001.
72 Borry P, Goffin T, Nys H, Dierickx K: Predictive genetic testing inminors for adult-onset genetic diseases. Mt Sinai J Med 2008; 75:
287 – 296.
73 Rhodes R: Why test children for adult-onset genetic diseases? Mt
Sinai J Med 2006; 73: 609 – 616.
74 Hayes CV: Genetic testing for Huntington’s disease – a family
issue. N Engl J Med 1992; 327: 1449 – 1451.
75 Grosfeld FJ, Beemer FA, Lips CJ, Hendriks KS, ten Kroode HF:
Parents’ responses to disclosure of genetic test results of theirchildren. Am J Med Genet 2000; 94: 316 – 323.
76 Quaid KA, Morris M: Reluctance to undergo predictive testing:the case of Huntington disease. Am J Med Genet 1993; 45:
41 – 45.
77 Malpas PJ: Why tell asymptomatic children of the risk of an
adult-onset disease in the family but not test them for it? J Med
Ethics 2006; 32: 639 – 642.
78 Rhodes R: Why test children for adult-onset genetic diseases?
Mt Sinai J Med 2006; 73: 609 – 616.
79 Skirton H: Telling the children; in: Clarke A (eds): The Genetic
Testing of Children. Oxford: Bios, 1998, pp 103 – 111.
80 Campbell E, Ross LF: Parental attitudes and beliefs regarding
the genetic testing of children. Community Genet 2005; 8:
94 – 102.
81 Hamann HA, Croyle RT, Venne VL, Baty BJ, Smith KR, Botkin JR:
Attitudes toward the genetic testing of children among adults in a
Utah-based kindred tested for a BRCA1 mutation. Am J Med Genet
2000; 92: 25 – 32.
82 Benkendorf JL, Reutenauer JE, Hughes CA et al: Patients’ attitudes
about autonomy and confidentiality in genetic testing for breastovarian cancer susceptibility. Am J Med Genet 1997; 73: 296 – 303.
83 Evers-Kiebooms G: Predictief testen van minderjarigen voor
aandoeningen die later in het leven tot uiting komen: psychologische aspecten en multidisciplinaire aanpak. Tijdschrift voor
geneeskunde 2006; 62: 463 – 471.
84 Swiss Academy of Medical Sciences: Genetic investigations inhumans, http://www.samw.ch/, 1993.

Genetic testing in asymptomatic minors
P Borry et al985 Human Genetics Society of Australasia: DNA presymptomaticand predictive testing for genetic disorders, http://www.hgsa.
com.au/policy/dnaptgd.html, 2002.
86 The American Society of Human Genetics Board of Directors and
The American College of Medical Genetics Board of Directors:
Points to consider: ethical, legal, and psychological impicationsof genetic testing in children and adolescents. Am J Hum Genet
1995; 57: 1233 – 1241.
87 Task Force on Genetic Testing: Promoting safe and effective
genetic testing in the United States, http://www.genome.gov/
10001733, 1997.
88 Canadian College of Medical Geneticists: Genetic testing ofchildren, http://ccmg.medical.org/, 2000.
89 Bioethics Committee Canadian Paediatric Society: Guidelines forgenetic testing of healthy children. Paediatr Child Health 2003; 8:
42 – 45.
90 Committee on Bioethics: Ethical issues with genetic testing inpediatrics. Pediatrics 2001; 107: 1451.
91 Dalby S: GIG response to the UK Clinical Genetics Society report‘The genetic testing of children’. J Med Genet 1995; 32: 490 – 491.
92 Clarke A: The genetic testing of children. Working Party of theClinical Genetics Society (UK). J Med Genet 1994; 31: 785 – 797.

93 American Medical Association: Testing children for genetic
status, http://www.ama-assn.org/, 1995.
94 Barnes C: Carrier testing in childhood: conflict or compromise. http://
www.medacad.org/eshg/abstracts/eshgplenary.htm, 2002.
95 McConkie-Rosell A, Spiridigliozzi GA, Rounds K et al: Parental
attitudes regarding carrier testing in children at risk for fragile
X syndrome. Am J Med Genet 1999; 82: 206 – 211.
96 James CA, Holtzman NA, Hadley DW: Perceptions of reproductive risk and carrier testing among adolescent sisters of maleswith chronic granulomatous disease. Am J Med Genet 2003; 119C:
60 – 69.
97 Green NS, Dolan SM, Murray TH: Newborn screening: complexities in universal genetic testing. Am J Public Health 2006; 96:
1955 – 1959.
98 UK Newborn Screening Programme Centre: Newborn blood
spot screening in the UK Policies and Standards. http://www.
newbornbloodspot.screening.nhs.uk/download/policies_standards.pdf,
2005.
99 Health Resources and Services Administration: Newborn
Screening: Toward a Uniform Screening Panel and System,
ftp://ftp.hrsa.gov/mchb/genetics/screeningdraftforcomment.pdf,
2005.

European Journal of Human Genetics