Genomic medicine in primary care: barriers and assets
Year: 2013
Type: editorial
Abstract: 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 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 culture of evidence-based medicine that seeks to maximise health benefits and minimise unnecessary harms to patients. Consequently, PCPs may be reluctant to integrate genomics into clinical practice. Certain genomic tests have been better studied than others. Variants in the BRCA1/2 genes have proven implications for the risk assessment and management of hereditary breast and ovarian cancer. In the USA, the Food and Drug Administration has included pharmacogenomic considerations for efficacy and safety on the labels of more than 100 medications including clopidogrel, warfarin and citalopram.3 However, developing an evidence base for most genomic tests comparable to what is known about BRCA testing, for example, will require decades of research. Pending such research, however, PCPs can take comfort in a situation familiar to primary care: having to make clinical decisions despite an absence of sufficient evidence. PCPs are experts at combining the available evidence with professional judgement and open communication to make medical decisions with the individual patients in front of them. At the same time, their call for clinical and patient-centred outcomes will be a critical contribution to shaping the genomics research agenda moving forward.
Source: Postgraduate Medical Journal
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2057686468