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Challenges in the genetic testing of children for familial cancers
  1. Angus J Clarke1,
  2. Clara Gaff2,3
  1. 1
    Department of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales, UK
  2. 2
    Genetic Health Services Victoria, Melbourne, Australia
  3. 3
    Departments of Medicine and Paediatrics, The University of Melbourne, Melbourne, Australia
  1. Professor Angus Clarke, Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XN, Wales, UK; clarkeaj{at}

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The genetic testing of children is a topic that has generated much disagreement and debate. When a child has an illness that may be genetic in origin, and genetic testing is a straightforward way of achieving a diagnosis, then genetic testing is clearly appropriate. When the child is healthy but at risk of the family’s inherited disorder, however, the situation may be very different. In cases where predictive genetic information is of clear practical value in decision making about future medical intervention, then the question comes down to a matter of timing: when, all things considered, will it be most helpful to determine the child’s genetic constitution? Internationally, guidelines encourage decisions about testing be left to the child once s/he is older if no medical intervention is available during childhood and adolescence for those at risk of disease.1 Nonetheless, in clinical practice, counselling parents who are seeking predictive genetic testing of their child for an adult onset condition is often more complex than simply citing guidelines as a reason for declining testing and expecting the family to deal with the consequences. These requests can raise complex issues for health professionals, bringing into play potentially conflicting commitments of genetics professionals, such as client-centred counselling (with the family as client), providing advocacy (for the child) and the need to consider the professionals’ long term relationship with the family. Here we discuss four scenarios that exemplify issues that arise not infrequently in practice. We have altered some case details to ensure anonymity.


A man affected by familial adenomatous polyposis (FAP) attends the genetics clinic with his wife and their 2-year-old son. The man had a subtotal colectomy performed at the age of 20 years with a good result and attends regularly for screening of his rectum. The parents request testing for their …

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  • Competing interests: None.