The era of precision medicine has arrived.
No doubt, precision medicine remains a confusing topic. Healthcare leaders might recognize the value theoretically…but aren’t sure how, or where, to start. Nevertheless, the day is not far off when genomic testing will be as routine as lab workups and radiology studies.
Simply put, it will become the standard of care – and sooner rather than later.
Research proves value
Few argue the value of integrating genomic data with clinical information so it can be used comprehensively in medical decision making. Consider these statistics…
• 98% of patients have genetic variants that affect how well they do (or don’t) metabolize specific medications – or if the drug might have toxic effects1
• 34% of all adverse drug reactions are caused by genetics, not drug-drug interactions2
• Expanding breast cancer genetic testing beyond BRCA1/2 resulted in 69.3% increase in clinically significant findings, according to a study to identify patients most at risk3
In short, use of genetic testing can help providers identify patients at the highest risk for a wide range of diseases from cancer to dementia to cardiovascular disease – impacting decisions around diagnostic studies, prevention and treatment. And it means they can achieve therapeutic benefit faster, avoiding trial-and-error methods that slow progress towards better outcomes. Overall, precision medicine delivers lower costs, higher quality scores, better outcomes and greater patient satisfaction.
Informatics strategies drive success
So, what’s standing in the way of many healthcare organizations? A proactive informatics strategy.
For providers to fully leverage the value of genomics, the data must be brought to the point of care – across all areas of practice – and integrated with clinical decision making. Here are two specific areas causing concern:
1. Digitizing genomic test results and translating them into vocabularies that are meaningful to clinicians. Those organizations already using genomic testing find that results are often returned via mountains of paper – and in the vernacular of the molecular lab. For the value of precision medicine to be fully realized, genomic test results must be available, understandable and actionable within the clinical workflow.
2. Ensuring that various departments, especially early adopters of genomics, don’t create data silos that limit the longer-term value and utilization of test data. For example, if the department chair of oncology purchases a cancer-specific genomics solution, other departments and specialists won’t be able to leverage the germline and pharmacogenomic data that has been captured and interpreted. Not only does this isolate vital patient information from other clinicians, but it limits the return on investment the organization can achieve with genomics software.
Select partners with care
As the industry embraces the promise of genomics and precision medicine, organizations can expect to hear from all sorts of solution providers. Molecular labs will have offerings and tools, as will software developers that simplify complex genetic data into evidence-based recommendations. Some will specialize in a particularly disease state or discipline – oncology, for example, or pharmacology.
Before casting your lot with any, however, make sure the partner you select will enable you to...
Get started in a way that make sense for your organization. You might select one area to begin using pharmacogenomics, for example – first in your cardiovascular practice, then expanding into endocrinology or behavioral health. Choose a precision medicine solution that provides a foundation so you can scale across the enterprise.
Leverage existing technologies and interfaces. Any platform you choose should be able to consume data from any molecular lab (in-house or outsourced) and deliver it into any EHR across your organization.
Share information seamlessly across departments for the overall good of your patients. Here is an example of the danger of data silos: A surgical oncologist orders a germline panel on a patient preoperatively. When the results are returned, the oncologist sees an incidental note about the VKOR1 gene, which could potentially can have significant alterations in warfarin pharmacodynamics and maintenance dose. If locked in the oncology precision medicine solution, concerns about improper dosing and bleeding risk would likely not be accessible by others at disparate venues of care (i.e., valvular heart treatment, pulmonary embolism or stroke.)
Integrate test results within individual patient records and the clinical decision-making workflow. Like other lab or radiology results, genomic data should be available to providers during patient encounters so they can consider relevant factors alongside other clinical information.
Futureproof your precision medicine program. The science of genomics is advancing rapidly. We will know much more tomorrow – about genetic variants, about therapeutics applications, about emerging risks – than we do today. Precision medicine tools must be designed to allow for the fast pace of change to they maintain value over time.
Recognized as a thought leader in the field of precision medicine, Dr. Joel Diamond is an Adjunct Associate Professor of Biomedical Informatics at the University of Pittsburgh and is Chief Medical Officer for 2bPrecise, LLC. He is a diplomat of the American Board of Family Practice and a fellow in the American Academy of Family Physicians. He cares for patients at Handelsman Family Practice in Pittsburgh, Pennsylvania.
1 Van Driest SL, Shi Y, Bowton EA, Schildcrout JS, Peterson JF, Pulley J, Denny JC, Roden DM; Clinically actionable genotypes among 10,000 patients with preemptive pharmacogenomic testing; Clin Pharmacol Ther. 2014 Apr;95(4):423-31. doi: 10.1038/clpt.2013.229. Epub 2013 Nov 19.
2 Verbeurgt, P., T. Mamiya and J. Oesterheld (2014). "How common are drug and gene interactions? Prevalence in a sample of 1143 patients with CYP2C9, CYP2C19 and CYP2D6 genotyping." Pharmacogenomics 15(5): 655-665.
3 Rosenthal, E, Evans, B, Kidd, S, Brown, K, Gorringe, H, van Orman, M, Manley, S; Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing; JACR 2017; 14(4): 561-568.