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Sequencing the human genome created the tantalising promise of more personalised medicine. Futurists envisage a time when each individual undergoes genome sequencing at birth, stores the data on a chip or in an electronic health record (EHR), and allows healthcare providers to query it throughout one's life. Genomic medicine, the use of one's genotype in medical decision-making, may improve health outcomes, but the clinical translation of this vast body of scientific information is in its infancy. Nonetheless, some patients are eager to use genomic information to shape their healthcare now. Primary care providers (PCPs), however, may not share their patients' enthusiasm for this new technology. Prioritising actions supported by an evidence base of efficacy, safety and cost-effectiveness, PCPs identify many barriers to the use of genomic medicine.1
The genomic medicine evidence base
The potential benefits of genomic medicine include improved disease risk assessment, selection of therapy and drug dosing. Its potential adverse effects include patient anxiety and the unnecessary and expensive tests and procedures that might follow from a genomic result.2 Despite rapid advances in understanding the genetic architectures of many diseases, translational research into the outcomes of their clinical applications has lagged. The full risk-benefit ratio is thus unknown for almost all genomic tests, particularly for long-term outcomes. Primary care has a …
Contributors All three authors made substantial contributions to the conception, writing and revision of the manuscript.
Funding This work was supported by National Institutes of Health grants U01-HG006500, R01-HG005092, K24-AG027841 and L30-DK089597.
Competing interests None.
Provenance and peer review Not commissioned; externally peer reviewed.