Standardized Care Versus Precision Medicine: Do We Really Need to Wait for Point-of-Care Testing?
Regarding the second point, there is an abundance of useful information that genomic studies can already provide. For example, the perioperative surgical home often incorporates not only the immediate perioperative period, but also the 30 days after surgery. Because one of the leading causes of unplanned readmission is venous thromboembolism, and fully 30%–40% of such readmissions are associated with a thrombophilia, preemptive knowledge of these polymorphisms (such as factor V Leiden) provides an opportunity to tailor care. Other useful genomic information includes the presence of clinically actionable polymorphisms coding for butyrylcholinesterase deficiency (BCHE gene) or malignant hyperthermia (RYR1 gene). And nitrous oxide has been associated with mortality in an infant with a methylenetetrahydrofolate reductase (MTHFR) polymorphism.2 Even β-blockers are markedly dependent on the patient’s genomic makeup.3
For 12 commonly studied genes, close to 100% of the population have at least 1 actionable mutation, a strong argument in itself for routine whole-genome testing.4 Indeed, the fourth leading cause of death in the United States is serious adverse drug reactions.2 Clearly, anesthesia providers can and should be pushing precision medicine and promoting incorporation of such data into our electronic medical records. It is also noteworthy that Illumina (San Diego, CA), the world’s largest provider of next-generation sequencers, has recently introduced a major advance in sequencing with the NovaSeq, with the prospect of bringing whole-genome sequencing costs down to as low as $100.
The time is now to require all elective major surgery patients to have genome sequencing as part of their standard preoperative workup. Such testing should be as commonplace as our requirements for an electrocardiography, hemoglobin, and potassium with the profound advantage that it only needs to be done once in the patient’s lifetime. We as anesthesia providers need to own precision medicine. Our patients will be the beneficiaries. We do not need point-of-care testing to bridge the gap for elective surgery; we need a realignment of how the anesthesia provider views the power of the human genome.