KEY IMPLICATIONS OF DATA SHARING IN PEDIATRIC GENOMICS AND CLINICAL CARE

Background: Genomic testing using next generation sequencing technologies has revolutionized our ability to identify disease-causing mutations for many conditions. This holds particularly true for children, in whom many (rare) genetic diseases first appear during childhood and optimal clinical management requires early diagnosis and treatment. Interpreting the results of such tests requires genotypic and phenotypic comparisons to reference data that must be obtained from both healthy populations and other affected individuals. The sensitivity and specificity of genomic testing undergird ethical safeguards against informational risk. They furthermore outline how, and under what circumstances data may be shared. Current pediatric data sharing practices have until now subscribed to siloed ethics norms/guidelines that apply either to the research or clinical contexts separately. Appropriate sharing of linked genotypic and phenotypic data in pediatric populations has, in turn, received sparse empirical and policy attention. Methods: Based on a scoping review (Arksey and O’Malley 2005) of the empirical and grey ethics literature, practical guidance is proposed for sharing genotypic and phenotypic data from pediatric patients with special attention to such sharing in clinical settings. This guidance coheres with two rights-based principles that anchor the Framework for Responsible Sharing of Genomic and Health-Related Data of the Global Alliance for Genomics and Health (GA4GH): i) the right of all citizens to benefit from advances in science and their applications, and ii) the right of all scientists to be recognized for their contributions. Results: The review substantiates that ethically-sound sharing of pediatric data rests on three interrelated factors: the rights to privacy and protection from potential informational risks and harms; the potential medical benefit for the individual pediatric patient; and the potential medical benefit for other pediatric patients of the same age or patient group, as well as for scientific progress generally. It is where these three factors intersect that specific ethical, legal and social implications of sharing pediatric genomic data emerge. Conclusions: That data sharing between the research and clinical community are rarely facilitated together delays clinical innovation and impedes accurate diagnosis of many pediatric conditions, particularly those that are exceedingly rare. International members of the GA4GH Pediatric Task Team (including the presenter of this paper) are currently developing a suite of Points to Consider in response. Pediatric patients are likely to benefit both directly and indirectly from the type of data sharing proposed in the evolving Points to Consider, and which will render actionable the idea that all children have a right to the health benefits derived therefrom.