More than a decade after the successful mapping of the human genome, clinical genomics is starting to permeate important parts of patient care and ripple throughout the entire U.S. healthcare system.
This increased adoption is partly due to growing acceptance of useful interventions, but it is also due to loose regulatory oversight that allows marketing of unproven tests or tests of no value that, one expert has warned, “threaten to overwhelm the health system.”
Actual usage and cost are impossible to ascertain because individual tests are not billed separately with Current Procedural Terminology (CPT) codes; the most recent data comes from 1996 from a mailed survey to labs. Nonetheless, the evidence strongly suggests that while use is growing rapidly, it too often contributes to wasteful spending and even patient harm through problems such as inaccurate cancer diagnoses.
As controversies over BRCA testing have shown, so-called personalized, predictive, preventive, and precision medicine can also be political, profit-, and plaintiff-driven and perplexing to patients and professionals alike. It is time for the policy community, long fluent in the argot of DRGs and billing codes, to acquire similar proficiency in the language of DNA and genetic codes. That process should start by examining what is hype, what is hopeful, and what is actually starting to make a genuine difference in patient care.
Although the field has fallen far short of the transformational therapeutic impact once widely predicted, genetic testing routinely guides therapy in several cancers and in HIV disease, and use of costly, targeted anticancer drugs is rising sharply. Six in ten primary-care physicians have ordered a genetic test, primarily for diagnostic purposes.
Pharmacogenomics (PGx) has become an established part of drug discovery. The Food and Drug Administration has approved biomarker information related to clinical usage for 76 unique drugs affecting medications in 18 therapeutic areas, including heart disease, depression, and pain, with a preponderance of oncology drugs.
However, government oversight does not appear to be keeping pace. An advisory committee to the Secretary of Health and Human Services recommended better regulation of genetic tests in 2008, but that committee was disbanded in 2010. Also in 2010, the FDA cited “public health concerns” about genetic tests and signaled its intent to regulate, but it has not done so with the exception of the small market for direct-to-consumer (DTC) tests.
A voluntary Genetic Testing Registry is set to be launched soon by the National Institutes of Health; the advisory committee had recommended a mandatory one. The Centers for Disease Control and Prevention’s Office of Public Health Genomics, which leads assessment of the evidence base, had its 2012 funding request slashed to under $1 million from $12 million. Just 1.8% of grants in cancer genetics for 2007 by the National Cancer Institute went to translational research, and a scant 0.6% of publications dealt with translational issues.
A sweeping update in CPT billing codes in 2012 is expected to include more than 90 gene-specific and genomic procedures in the category of commonly performed tests, making it much easier to order and be reimbursed for them. Yet primary-care physicians are confused: while 98% agree genetic testing is useful, just 10% feel adequately informed about using it.
Although professional groups are working to improve guideline development and dissemination, the for-profit sector, led by large pharmacy benefits managers, is much more rapidly building an implementation infrastructure. As with diagnostics, clinical genomic therapeutics also has a DTC component that skirts traditional gatekeepers.