Advancing Precision Medicine in Paediatrics: Past, present and future

Abstract

Precision Medicine is an approach to disease treatment and prevention taking into account individual genetic, environmental, therapeutic and lifestyle variability for each person. This holistic approach to therapeutics is intended to enhance drug efficacy and safety not only across healthcare systems but for individual patients. While weight and to some extent gestational age have been considered in determining drug dosing in children, historically other factors including genetic variability have not been factored into therapeutic decision making. As our knowledge of the role of ontogeny and genetics in determining drug efficacy and safety has expanded, these insights have provided new opportunities to apply principles of Precision Medicine to the care of infants, children and youth. These opportunities are most likely to be achieved first in select sub-groups of children. While there are many challenges to the successful implementation of Precision Medicine in children including the need to ensure that Precision Medicine enhances rather than reduces equity in children’s health care rather, there are many more opportunities. Research, advocacy, planning and teamwork are required to move Precision Medicine forward in children in pursuit of the common goal of safe and effective drug therapy.

Translating Precision Health for Pediatrics: A Scoping Review

“…Successful implementation will also hinge upon improving pathways to access interventions when indicated. Safe and equitable access should be paramount, especially since precision medicine has the potential to increase health disparities [12].…”

“…It is important to note that the challenges for evidence development, evidence appraisal, and implementation may manifest differently for different types of precision health interventions. Terminology is also important, and the scope of "precision health" and its variable and evolving interpretations may not capture all the literature that focuses on "omic" guided medical decisions [12,111]. Finally, to appreciate the precision child health literature as a whole, we did not limit our scoping review to the primary literature.…”

“…While implementation science frameworks are readily applicable to pediatrics, they are not typically integrated into the development stages of research (i.e., hybrid designs) and are only just emerging in precision health. Continuing to resolve these limitations is imperative because children may have the most to gain from precision health interventions through identifying genetic aberrations and tailoring care early in life [12]. The thoughtful integration of the principles and criteria of health technology assessment (HTA) and implementation science in studies throughout the translational pathway is essential for realizing the anticipated impact.…”