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Genomic medicine in primary care: barriers and assets
  1. Jason L Vassy1,2,3,
  2. Robert C Green3,4,5,
  3. Lisa Soleymani Lehmann3,6
  1. 1Section of General Internal Medicine, VA Boston HealthCare System, Boston, Massachusetts, USA
  2. 2Division of General Internal Medicine and Primary Care, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA
  3. 3Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA
  4. 4G2P Research Program and Partners Center for Personalized Genetic Medicine, Boston, Massachusetts, USA
  5. 5Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA
  6. 6Center for Bioethics, Division of General Internal Medicine and Primary Care, Department of Medicine, Brigham and Women’s Hospital, Boston, Massachusetts, USA
  1. Correspondence to Dr Jason L Vassy, 150 South Huntington Avenue, 152G, Boston, MA 02130, USA; jvassy{at}partners.org

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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 …

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