How Can We Move Clinical Genomics Beyond the Hype?

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Posted to Web: October 21, 2011
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More than a decade after the successful mapping of the human genome, clinical genomics is starting to permeate important parts of patient care. Although the field has fallen far short of the transformational therapeutic impact once widely predicted, the use of genomic interventions is rising rapidly, if not always appropriately. Avoidable patient harm and excess costs mix with significant clinical and economic benefits. A health policy community long fluent in the argot of DRGs and billing codes needs to acquire similar proficiency in the language of DNA and genetic codes. This paper, by Michael Millenson, a senior policy consultant to the Urban Institute, examines what's hype, what's hopeful and what's starting to make a genuine difference in clinical genomics. .

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More than a decade after the successful mapping of the human genome, clinical genomics is starting to permeate important parts of patient care and propel ripples throughout the entire U.S. health care system.

Although the field has fallen far short of the transformational therapeutic impact once widely predicted, particularly in regard to common diseases, genetic testing routinely guides therapy in several common cancers and in HIV disease, and use of costly, molecularly targeted anti-cancer drugs is rising sharply. Six in 10 primary care physicians have ordered a genetic test, primarily for diagnostic purposes.

Pharmacogenomics, the science of how genetic differences can affect individual drug responses, has become an established part of drug discovery and of the guidance given physicians on labels of drugs approved by the Food and Drug Administration (FDA). As of June 30, 2011, the FDA had approved biomarker information related to clinical usage for 76 unique drugs affecting medications in 18 therapeutic areas; a preponderance of these are oncology drugs, with others related to heart disease, depression and pain.

Yet while increased adoption is partly due to growing acceptance of useful interventions, it is also due to a porous regulatory structure that allows marketing of diagnostic tests of unproven or no value. Actual test usage, cost and the usage growth rate are impossible to ascertain because individual genetic tests are not billed separately with today's Current Procedural Terminology (CPT) codes. Nonetheless, the evidence presented in this paper suggests that use of genomic tests and therapies is growing rapidly, but that they often contribute to wasteful spending and even patient harm through problems such as inaccurate cancer diagnoses.

An advisory committee to the Secretary of Health and Human Services recommended enhanced oversight of genetic tests in 2008, but that committee was disbanded in 2010. The FDA cited "public health concerns" about genetic tests and signaled an intent to regulate in June 2010, but it has not yet done so except through increased oversight of the small market for direct-to-consumer (DTC) genetic tests.

Government assessment and oversight of clinical genomics does not appear to be keeping pace with private efforts to encourage adoption of this technology. A voluntary Genetic Testing Registry is set to be launched shortly by the National Institutes of Health (NIH); the advisory committee had recommended a mandatory one. The NIH's planned National Center for Advancing Translational Sciences includes genomic medicine, but its impact is unclear. The Centers for Disease Control and Prevention's Office of Public Health Genomics, which leads assessment of the evidence base for clinical genomics, had its 2012 funding request slashed to under $1 million from a prior level of $12 million a year. Just 1.8 percent of grants in cancer genetics for 2007 by the National Cancer Institute went to translational research, and a scant 0.6 percent of publications dealt with translational issues.

Meanwhile, a sweeping update in CPT billing codes that takes effect 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 for clinicians to order and be reimbursed for them.

Although clinical genomics has the potential to be personalized, predictive, preventive and precision medicine, it can also be political, profit- and plaintiff-driven, and perplexing to patients and professionals alike. Different groups within the private sector and government reach different and sometimes contradictory conclusions about the clinical usefulness of various interventions, such as genetic tests for sensitivity to the blood thinner warfarin or for guiding breast cancer therapy. Primary care physicians are confused: while 98 percent agree that genetic testing is useful in guiding drug therapy, just 10 percent feel adequately informed about using it. A recent study concluded that medical literature simply does not exist on how to formally integrate pharmacogenomic information into the formulary decision process used by health systems and health plans.

Development and dissemination of guidelines is now being done by various professional organizations. At the same time, the for-profit sector, led by large pharmacy benefits managers, is rapidly building its own implementation infrastructure. Clinical genomic therapeutics also has a DTC component that skirts traditional gatekeepers and helps patients directly access interventions.

In addition to the challenges noted above, issues in integrating clinical genomics into routine care include the inability of most health information technology (HIT) systems to handle genomic information in a structured way and the necessity for comparative effectiveness research that examines identifiable subpopulations. Genetic tests and therapies can also raise awkward questions about genetic definitions of race and religion and add to concerns about underserved populations.

The buzz surrounding clinical genomics is similar in some ways to the early enthusiasm for HIT and should sound a warning about realistic expectations. One overarching imperative is for improved transparency of information for policymakers, payers, providers and the public. This includes:

  1. Data on evidence. There are large gaps in knowledge, either because questionable studies or a lack of data entirely. Dissemination of information on genomics in practice is impeded by having information scattered across multiple websites. Government- and privately funded technology assessments often fail to not coordinate methodologies and targets of inquiry.
  2. Data on implementation. NIH could demonstrate that its forthcoming Genetic Testing Registry will serve constituencies beyond clinical laboratories by making comprehensive information available to be used by researchers and clinicians. The government could also fund more reliable research on the benefits, harms and economic impact of genomic interventions in actual practice. At present, the medical literature is largely filled with anecdotes that provide little useful policy guidance.
  3. Data on regulatory actions. The FDA could finally regulate laboratory-developed tests (LDTs) as promised, report on what LDTs have been approved, and initiate post-marketing surveillance on safety. FDA data about pharmacogenomic information available to prescribing physicians could also be examined, since at present, the agency's pronouncements on these issues can be contradictory and confusing.
  4. Data for payment. Public and private payers could be clearer about what evidence they require. The Medicare Payment Advisory Commission could provide Congress with objective advice about how this technology should be implemented. Evidence-based criteria will become critical with the proliferation of expensive medications targeting small subgroups of patients, particularly those with cancer and other serious diseases.
  5. Data for consumers. Congress and federal agencies could give the public information and tools it needs to make good decisions about a technology that often raises uncomfortable ethical, clinical and economic questions. For instance, prenatal genetic testing is becoming easier and much less expensive, as is testing of newborns for possible predisposition to a long list of diseases that may or may not be clinically relevant. Given the risks and benefits of clinical genomic tests set forth in this paper, government and private payers alike could focus more closely on consumer education and protection.

Finally, as the tools of DNA discovery enter mainstream medicine, they need a descriptor such as "genetically personalized medicine" or "personalized genetic medicine" that acknowledges that genetic knowledge is only one component of the larger health care system. Perhaps the main challenge facing clinical genomics is ensuring that it is held to the same standards of evidence as other medical interventions as it takes its place as a significant component of the U.S. health care system.

About the Author and Acknowledgements

Michael L. Millenson is the president of Health Quality Advisors LLC, the Mervin Shalowitz, MD Visiting Scholar at Northwestern University's Kellogg School of Management and a senior policy consultant to the Urban Institute. The author thanks Bob Berenson and two anonymous peer reviewers for their enormously helpful comments and suggestions and Juliana Macri for her editorial and research assistance. This research was funded by the Robert Wood Johnson Foundation.

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