Paediatric genetic research project to inform patients of findings

18 June 2010

A genetic research project is using a novel approach with respect to patient involvement and feedback. The Gene Partnership Project (GPP), based at the Children's Hospital Boston in the US, is a longitudinal study that aims to analyse links between genetics and disease by linking clinical and environmental data with genetic analysis. The intention is to collect 10,000 DNA samples a year, ultimately making sampling part of routine hospital care.

The difference from other projects of this type involving DNA databases is that a deliberate decision has been made to allow participants secure access to selected information about their own samples, as well as keeping them informed of discoveries arising from the research project. This could include identification of genetic factors associated with disease susceptibility.
Although it is not unknown for major research findings to be communicated directly to study participants, it is clearly less practical for large-scale, long-term studies such as this one. It is particularly unusual for participants to be informed about medical findings. This is due to concerns about protecting the privacy of patient data, and of providing information that may be unhelpful (for example, if it is misinterpreted by recipients). Incidental findings, where researchers inadvertently uncover evidence of serious medical conditions (see previous news), are actually quite rare in genetic research compared with other forms of clinical analysis – for example, involving medical imaging, which can identify undiagnosed tumours.
Reportedly, any decision to feedback genetic information from the GPP is taken by an oversight board (including ‘geneticists, ethicists and advocates’) on the basis of scientific validity and clinical utility (such as whether intervention to prevent or treat disease is possible); contact is made via a ‘secure electronic-messaging system’ (see Wall Street Journal article). Issues relating to consent are also relevant. In this instance, permission is sought from parents and also the participating children at ages 7, 13 and 18; withdrawl of consent means that DNA samples are destroyed.
Comment: The project website says that the innovative data-sharing approach will allow patient and families to ‘become full partners in this research, knowledgeable participants who can benefit from the discoveries made during the study’. This is a laudable aim, and indeed suitable benefit-sharing from research is an area of increasing importance. However, the fact that the study participants are all recruited as children does raise some issues around informed consent, despite the appropriate plan to re-obtain consent as children get older; for example, a potential conflict between the wishes of the parents and that of participating children. Also, how far can (or should) a child be a ‘full partner’ in such research, and how does the transition in involvement evolve from parent to child as the child's understanding and autonomy increases over time?
Making recruitment part of routine hospital practice, in combination with the feedback process, could also cause some confusion between scientific research and normal clinical investigation. It may be that increased patient involvement in long-term genetic research projects of this nature, whilst probably a good thing, would be better trialled in an adult population.

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