Genomic medicine is an emerging discipline with enormous promise for enabling providers to create highly targeted care plans for individuals and patient populations. Used for both diagnosis and risk prediction, the number of genetic tests available is growing by leaps and bounds. In the National Institutes of Health Genetic Testing Registry, for example, more than 16,000 detailed tests for 4,200 conditions and 2,800 genes now exist.
In keeping with healthcare’s emphasis on value-based care, advances in genomic information technology are revealing new opportunities to bring disparate data together to promote precision medicine. In fact, by incorporating complex genomic, lab and other data into EHR-accessible platforms, healthcare organizations can further enhance the clinical information already stored and provided through EHRs – thus shaping the future of healthcare.
Growing benefits for patients and providers
Genomic information is used to diagnose, treat and even predict disease more accurately by looking at specific gene sequences and the role they play in a person’s health. As the evolution of genomics continues and its use becomes more mainstream, individuals, patient populations and providers all will realize significant benefits.
Individual patients can benefit from an integrated view of their genomic and pathology data that empowers providers to diagnosis and treat faster and more effectively. Typically, for example, providers today will order a battery of tests to diagnose the cause of a patient’s symptoms. This approach requires starting with a broad view of diagnostic possibilities and then progressively narrowing them down based on test findings, which can be a costly and time-consuming process.
By contrast, genetic testing immediately narrows the diagnostic view by identifying variants within the genome. These variants potentially can create health issues – if not immediately, then in the future. Mutations of the BRCA1 and BRCA2 genes, for example, influence the risk of breast and ovarian cancer. Knowing a woman has such mutations can help shape effective therapies, including preventive action.
Physicians also can pinpoint trends, patterns and opportunities to improve care across patient populations by enabling the capture, storage and analysis of valuable genomic variant data. When new genetic variants are detected, for instance, the results can initiate a process to track and develop new treatment plans, helping future patients in the affected population. In this way, entire patient populations can benefit from access to a growing and constantly updated database of genomic data.
As a new discipline, genomic medicine does carry some implementation challenges because it requires unique clinical skill sets, specialty-testing equipment and software capable of recording, storing and interpreting the results. This means healthcare organizations need to fully commit before they will see effective clinical application. Once they do, however, the precision of genome-supported diagnostic information holds the potential for substantive advances in patient care and outcomes.
Shaping the future
Genomic medicine supports the precepts of value-based healthcare by permitting faster diagnoses, more accurate individual care plans and more efficient care delivery – all factors that additionally bring higher physician and patient satisfaction. As more genetic data is gathered, more targeted treatments will reduce the number of tests and treatments needed to produce desired outcomes. Furthermore, as genetic testing moves into the mainstream of medicine, its costs will continue to decline.
| Matthew Hawkins, President, Sunquest |
Several reports and statistics point toward accelerated use of genomic-based medicine in the near future, including a market outlook for 2018 that predicts a 9 percent compound annual growth rate for the U.S. genetic testing market, as well as a report released by the United Health Center for Health Reform and Modernization that anticipates a five-fold increase in spending on genetic testing. The job outlook for genetic counselors also looks strong, with employment growth from 2012 to 2022 projected at 41 percent.
These predictions and trends coupled with changing healthcare reimbursement models validate that future success in value-based care requires use of precision medicine – backed by genomic information – to improve individual health outcomes and population health management. They underscore that the time is right to bring science and technology together to solve the long-standing problems of cost and quality in healthcare.
