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Chunk #32 — Future challenges — Genomic science

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Genomics, personalized medicine, and pediatrics.
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better understanding of such interactions, rational approaches to mitigating or exploiting environmental factors – or genetic ones - will be difficult to achieve. Third, efficient clinical trial methods are needed that leverage genomic information to optimize discovery and patient outcomes. Each child’s genome is unique, even in identical twins, and individual variation may bear meaningfully on responsiveness to health interventions or adverse reactions. Currently, clinical trials rarely integrate genomic information into design and data collection; this represents a major missed opportunity for discovery. Fourth, emerging structures for clinical care and clinical informatics must be adapted to support genomics research. Understanding the health consequences of rare variations in the population will require large numbers of individuals, and prospective research cohorts are extremely costly to assemble and follow over time. Effective “learning health care systems” that leverage clinical information stored in electronic health records for research, while respecting individual privacy and confidentiality, would dramatically accelerate clinical genomics research.72 Such settings would provide rapid correlations between genotype and clinical observations such as new diagnosis, adverse reactions to medications, treatment outcomes, and disease related complications at considerable less expense than would multiple independent clinical studies.