Independent and hospital-based clinical laboratories, physician pathology practices, and university medical centers all develop and validate tests in their own laboratories for physician-directed patient care. Referred to as Laboratory Developed Tests or “LDTs,” these tests range from Pap smears, manual blood cell counts, erythrocyte sedimentation rates, microbiology cultures and susceptibility tests, among many others, to the new advanced diagnostics that derive from the mapping of the human genome.
LDTs enable better-informed diagnosis and better-targeted care. Genetic tests, the vast majority of which are LDTs, identify disease at the molecular level–at the level of the individual's own chromosomes and DNA, which is where disease begins. With information from these tests, physicians can more accurately diagnose conditions and select treatments that precisely match the true molecular nature of the disease.
Genetic testing represents nothing short of a revolution–in science, in diagnosis and treatment, and in management of disease. In fact, it alters the very way we think of diagnosis and treatment–eliminating the trial-and-error approach that has been with us since the dawn of time. Instead of doing everything we can for patients and hoping that it works–based upon the response of similar patients–we can now do exactly what that individual patient needs and know that it will work, based upon our knowledge of the human genome and the genetic insights provided by genetic tests.
The potential is staggering. For patients, genetic testing means better, more informed care, fewer adverse events and side-effects, and fewer “false starts” with inappropriate treatment. For the health system and the health economy, genetic testing means new ways to battle high costs and inefficient utilization of health services. Each year, the U.S. spends more than $300 billion on drugs. Some 50 percent of that drug usage provides little or no benefit to patients. The problem is that physicians have not been able to know precisely which medications will benefit a particular patient's condition. Genetic testing is changing that and could potentially save up to $100 billion annually.
One specific example is colon cancer. Genetic tests are able to identify the approximately 40 percent of all colon cancer patients whose unique genetic variation prevents them from benefiting from a certain drug for the disease. Thus, they can avoid the drug–and its damaging side effects–and physicians can get started sooner on more effective treatments. This means improved patient safety and more appropriate utilization at the same time. And because colon cancer drugs can cost in the range of $8,000 to $10,000 per month, genetic testing can generate more than $600 million in healthcare savings each year in this single disease circumstance. The same kind of achievements are occurring for breast cancer, leukemia, HIV, heart disease and other illnesses, extrapolating the overall savings to include dollars, quality of care, and patient lives.
Because of this impact, it is especially important for us to note new legislation introduced recently in Congress that will make it more likely that LDTs and genetic tests can realize their full potential. Representative Michael Burgess (R-TX) –a physician as well as a member of Congress– has introduced a legislative approach that is smart and forward-looking. In my estimation, this approach is best for patient care, best for a cost-effective health-care system, and best at protecting public health, while at the same time promoting economic growth, innovation, and job creation. The Modernizing Laboratory Test Standards for Patients Act (H.R. 3207) will update the Clinical Laboratory Improvements Amendments (CLIA) by:
- Providing clear regulatory certainty for laboratory developed tests, avoiding duplicative federal regulation as proposed by the Food & Drug Administration (thus eliminating the risk of further burdening the agency with new oversight which it has neither the infrastructure nor resources to accomplish), and allowing for additional investment and job growth.
- Strengthening the current regulatory structure of CLIA to include new regulations for the clinical validity of all LDTs and for Test Offering Entities that offer and report DNA test results directly to consumers.
- Enhancing public transparency for patients, providers, and regulatory agencies by the establishment of an LDT Test Registry Data Bank.
- Forging public/private partnerships with qualified non-governmental organizations with expertise in the evaluation of laboratory testing to assist in LDT validation review.
- Requiring clinical laboratories to report any known instance where an LDT may have resulted in death or serious injury and include in the report to the ordering provider all relevant information regarding capabilities and limitations of the LDT.
- Not requiring any additional government expenditures because, like the current CLIA program (and unlike medical device FDA user fees that cover only 20% of expenditures), any and all additional resources required by the proposal would be funded by the CLIA user fees.
This legislation provides a new, flexible, and innovative form of regulation, allowing new products to come online to meet changing needs and ensuring patient safety through responsible premarket review and comprehensive post-market data gathering and analysis. In short, it is reasonable, common-sense, 21st century regulation.
Alan Mertz, MA, is president of The American Clinical Laboratory Association (ACLA).
