AAP guidelines on genetic testing of children: a commentary

Alison Hall

27 February 2013

A commentary on the AAP and ACMG policy statement on ethical and policy issues in genetic testing and screening of children

The policy statement recently published by the American Academy of Pediatrics and the American College of Medical Genetics and Genomics (see previous news) seems a thoughtful and pragmatic response to burgeoning opportunities for childhood genetic testing and screening. Unsurprisingly, the thrust of the recommendations is that a child’s best interests should drive the decision to proceed with testing and screening: this much is uncontroversial. There is greater emphasis placed on joint decision making – including where appropriate, formalising and evidencing a child’s engagement through seeking an assent, (or presumably a consent from a competent child, although this is not mentioned explicitly). Another theme running through the recommendations is the need to consider the breadth of medical, psychological and social implications, for both the affected child and family members. Again this inclusive approach is welcome.

There is also a refreshingly pragmatic approach: such as the acknowledgement that genetic counselling can be offered by ‘any… health care provider with appropriate training and expertise’. Given the likely expansion of childhood testing and screening, it is important that these recommendations envisage the need for genetics education and training outside clinical genetics settings.

In one respect the recommendations could be clearer: it is uncertain whether children awaiting placement for adoption might be offered predictive genetic testing for adult onset conditions, if the justification for such testing is that it might secure a placement. This is something which has been discouraged in UK guidance from the British Society for Human Genetics [1] (which superseded the 1994 Clinical Genetics Society guidance quoted in the accompanying AAP/ACMG Technical report [2]) and perhaps could have been made more explicit in this statement. The recommendations also do not address the genotyping of children for personalised screening for common cancers. The ethical and legal principles which should govern such genotying form part of the COGS project, in which the PHG Foundation has been involved [3].

[1] British Society for Human Genetics. Report on the Genetic Testing of Children. Birmingham, UK: British Society for Human Genetics, 2010.

[2] Ross LF et al. Technical report: ethical and policy issues in genetic testing and screening of children. ACMG Policy Statement. Genetics in Medicine

[3] Hall A, Chowdhury S, Pashayan N et al. What ethical and legal principles should guide the genotyping of children as part of a personalised screening programme for common cancer? Journal of Medical Ethics (in press)