Many different professional guidelines have responded to the issue of predicting risk of disease, or future reproductive risks, in children through the use of genetic tests. In 1994, the UK Clinical Genetics Society (CGS) [1] recommended that such testing should only be done if the onset of the condition was likely to occur in childhood or if there were useful medical interventions that could be offered to treat, delay the onset, or ameliorate the course of the disease. Twenty-six further national and international guidelines (reviewed by Borry et al. [2]) similarly recommend that testing should be deferred until such time there is medical benefit, or until the child is old enough to make an autonomous decision [2–4]. Despite this almost unanimous guidance, clinical practice suggests that predictive genetic testing does occur in childhood and that practitioners can find it difficult to know how to respond to parental requests for genetic testing [5, 6]. This, and the expansion of genetic services over the past 2 decades prompted The British Society of Human Genetics (which now incorporates the above mentioned CGS, as well as genetic counsellor and laboratory specialist societies) to call for a review of their 1994 guidance to see if, and how, these should be updated. Most of the guidelines on childhood-testing base their recommendations on the need to protect children’s best interests, and conclude that these are not served if there is no medical benefit to be gained from testing. Potential adverse psychosocial consequences, including altered parent–child relationships, anxiety, possible discrimination (for example, by the insurance industry), depression and altered self concept, are cited as possible harms and reasons to defer testing [7, 8]. Although professional guidelines have been unanimous in their recommendations, the debate has also acknowledged both potential benefits of childhood-testing for adult onset conditions and potential harms of postponing testing until adulthood [9–11]. It has also acknowledged that the guidelines reflect a cautious approach, based on largely theoretical concerns, and that they should be reviewed once further research evidence about the harms and benefits of testing has been gathered. Therein lies a problem however; practitioners have been reluctant to test on a routine basis, and more importantly perhaps, to study the consequences of testing in the rare cases where such testing does take place, because of the very existence of the guidelines. Further, although there is broad consensus, there are also subtle differences between the guidelines. For example, guidance issued by the European Society of Human Genetics [4] suggests that a predictive genetic test in childhood may be indicated if the onset can be expected at this age AND if medical measures can be taken to prevent or treat the disease or complications, whilst the 1994 CGS guidelines suggest it might be appropriate if the onset of condition is in childhood OR there are useful medical interventions that can be offered [1]. Testing for conditions such as Li–Fraumeni syndrome (which can have an onset in childhood, but for which there are no evidence based A. Lucassen (&) Division Cancer Sciences, Academic Unit Genetic Medicine, University of Southampton, Southampton, UK e-mail: a.m.lucassen@soton.ac.uk
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Apr 9, 2023
Claire M. Lawley + 1
