Sunday, May 31, 2009

Genetic Disorders: Europe demands early testing of Children

CHILDREN should be tested for genetic disorders if their family history puts them at high risk, even if they don't show any symptoms, according to new Europe-wide guidelines.

Some European countries already have guidelines on testing children at risk of genetic disorders, but they disagree on when to carry out the tests. There is also the thorny issue of whether to test for disorders that can't be treated or prevented, says Pascal Borry of the Catholic University of Leuven (KUL) in Belgium, who helped write the new guidelines.

Now the European Society of Human Genetics is recommending immediate testing of children at increased risk of treatable conditions that appear in childhood, such as Duchenne muscular dystrophy and retinitis pigmentosa. Even if treatment is not an option, testing can be worthwhile as it may forewarn or reassure the family, but the child's interests must come first, says the society (European Journal of Genetics, DOI: 10.1038/ejhg.2009.26).

It also states that minors should be able to choose in the case of conditions that only occur later in life, such as inherited breast cancer, provided they understand the implications of the test. Such tests are particularly valuable if modifying lifestyle can lower the chance of getting the disease.

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