Meeting held at the British Medical Association 17th July 2007
Genetic testing can have difficult, long term consequences for the person being tested and their family. The use of diagnostic genetic testing for children is generally not considered contentious because an accurate diagnosis is often in the child’s best interest, as treatment can be given to help alleviate symptoms of the disorder to prevent further complications, and other unnecessary investigations can be avoided. Although potentially distressing, parents and clinicians often decide on this course of action on behalf of the child because of the benefit gained. Other types of genetic testing, however, remain ethically problematic - such as the predictive testing of apparently healthy children for a disorder that would occur later in adult life and for which there is no current useful intervention that would alter its course and outcome (for example Huntington Disease). Another example would be the testing of healthy children to determine their carrier status for inherited disorders (such as sex-linked or recessive disorders including CGD and cystic fibrosis).
The current guidelines (link to this article) concerning predictive and carrier testing date from 1994. They conclude that in the absence of childhood onset or the availability of medical intervention that predictive testing for an adult-onset disorder should not be offered, and that decisions should only be made in adult life by the person who is ‘at risk’ after very careful discussion of their views and feelings. Similarly, carrier testing of children should not be offered to parents where the aim of the test would be of purely reproductive significance to the child in future.
A recent meeting sponsored by the Clinical Genetics Society, the Genetics Interest Group, the Society for Genomics Policy and Population Health and the British Medical Association explored how far the debate had progressed over the last decade or so and reviewed current practice and possible changes in policy.
Research presented at the meeting showed that clinicians generally seem more sympathetic to retaining a child’s autonomous choice and delaying testing wherever possible for late onset and carrier testing. However there were no rigid policies, and cases were assessed on an individual basis based on the age of the child and their competency to understand the significance of the genetic test and ability to deal with the outcomes from the result. Lots of discussion focused on whether there was a need for separate guidelines for young children and adolescents. There was a general consensus that setting a strict age limit for genetic testing as in Australia (at 18 years old) was inappropriate. Significant variations in attitude to carrier testing were highlighted between European countries, with Southern and Eastern European countries being more likely to perform carrier testing of a child at the request of a parent than Northern and Western European ones. Within Northern and Western Europe there were also variations – with the UK willing to test a minor two years earlier than in Germany or France, indicating that UK clinicians/counsellors are taking into account competency rather than just the age of individuals. The call was for more evidence-based research on the psychosocial implications on the genetic testing of children.
A representative from a genetic disorder charity put forward the affected family perspective and stated that the overall experience was that families want carrier testing early so that they introduce information gradually to their children and that the major concern of parents is that their children know their carrier status prior to sexual activity and chance of passing on the genetic condition. Indeed, many children with an affected sibling may already know they may be carriers and know the effects of the genetic condition first-hand, so may be much more willing to take on the information at an earlier age.
In conclusion, the majority of delegates agreed that the guidelines require updating especially in light of the increased use of pre-implantation genetic diagnosis where carrier status will be known at birth. It is envisaged that a wide number of different stakeholders will be involved in the consultative process including charities serving the interests of people affected by genetic disorders.IMPORTANT NOTE :
The information contained on this website is intended only as a guideline, not as a substitute for medical advice. Always consult your doctor if you or your child has any CGD symptoms or concerns.
© 2001-2007 The Chronic Granulomatous Disorder (CGD) Research Trust
Registered Charity No. 1003425 email:cgd@cgdrt.co.uk
The CGD Research Trust is a member of the Association of Medical Research Charities (AMRC), the Genetic Interest Group (GiG) and an associate member of the International Patient Organisation of Primary Immunodeficiencies (IPOPI)
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