Drs. Snyderman and Yoediono present a challenge to academic medicine in this issue to lead the movement toward prospective and personalized—defined as genomics based—medicine, which they see as the solution to our health care crisis. They raise important issues and are correct in pointing out many faults of U.S. health care. However, their solution to the health care crisis is far too narrow.
There is broad agreement that our health care system is dysfunctional; we pay much more per capita than any other country for far worse outcomes.1,2 But this is not because we lack the “personalized” system described by the authors. None of the countries that soundly outperform us on cost and quality have such a system either. The U.S. system underperforms because we lack universal coverage and we overemphasize specialty care. The result is uncoordinated, duplicated care that overuses unproven and potentially harmful interventions and underutilizes preventive services of proven benefit.1–5
The benefits of a strong primary care infrastructure are known,6 and improving the U.S. health care system must address this weakness forcefully. It is unlikely we will control costs unless we evaluate the benefits and harms of new technologies before they achieve widespread use, including genetic-based tests.5 And without universal coverage, many U.S. residents will fail to benefit from evolutions in medicine. These issues need to be addressed to achieve the full potential of health care.
Snyderman and Yoediono appear to believe that medical intervention has the major role to play in preventing illness. However, illness is caused mainly by lifestyle, behavioral, and environmental factors,1 and these are more likely to be affected by community-based interventions than by providing individuals with a genetically based risk profile. Public health advances and the resulting reductions in mortality in the 20th century resulted from community-wide efforts such as providing clean water, sanitation, safe foods, improved living conditions, safer cars and work places, and mass vaccination. In spite of the benefits that result from public health programs, we spend less than 2% of total health care costs on them. Emphasizing individualized, personalized health care may actually worsen our nation's health status by concentrating more resources on medical care of marginal effectiveness, leaving less for public health interventions.7
In addition, the presumed preventive benefits from “personalized medicine” are based on the largely unproven assumption that individuals will change behaviors if they know their personalized risk profile. There are populations in the United States with a documented 50% chance of contracting type 2 diabetes, and we have had little to no success changing their behavior to lower this risk.8 Most of the predictive power added by genetic testing is far lower than this. I searched through the authors' reference list, and could find no evidence that any illness had been prevented by the myriad prospective medicine products described.
In addition, genetic tests have the potential to cause more harm than benefit. They come with the high cost of many false-positive results and poor predictive values when searching for uncommon diseases.9 Their use becomes especially problematic for conditions with no effective treatments. The United States Preventive Services Task Force has looked at three genetic-based screening tests; for Alzheimer disease, hereditary hemochromatosis, and breast and ovarian cancer. They recommend none of these for universal screening.10 The Evaluation of Genomic Applications in Practice and Prevention project at the U.S. Centers for Disease Control and Prevention has also evaluated genomic-based interventions, generating evidence reports on gene profiling for breast and ovarian cancer, hereditary nonpolyposis colon cancer, and cytochrome P450 polymorphisms that affect the metabolism of selective serotonin reuptake inhibitors. Their findings and recommendations thus far are more cautious than those of “personalized medicine” proponents.
The purpose of this alternative view is not to downplay the potential benefits from genomics but to place them in a broader perspective. Rapid advances in genomic-based technologies will lead to improvements in therapeutic and preventive care. However, unfettered “personalized” medicine could also lead to markedly increased spending for medical care services, some with marginal or no benefit, leaving less for primary care and public health. This prospect is enhanced by unregulated, direct-to-consumer advertising of genetic tests.
Yes, academia should lead, by assessing the benefits and harms of new technologies and translating this information into clinical practice. We should ask questions about the ethics and social effects of genomic information and the potentially deleterious consequences of marginal improvements at high cost. We should use the term personalized medicine to mean the provision of cost-effective, evidence-based, coordinated health services in a primary care medical home, using genetic and other information when it has proven to be beneficial. And, we should take the lead in advocating for a universal system of health care based on interventions of proven effectiveness.
Douglas Campos-Outcalt, MD, MPA
Dr. Campos-Outcalt is associate chair, Department of Family and Community Medicine, and assistant dean for outreach and multicultural affairs, University of Arizona College of Medicine, Phoenix, Arizona; e-mail: (email@example.com).
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