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Making the Most of Genetic Testing
By Shobita Parthasarathy

The field of genetic testing is at a crossroads. This arena of medicine, which helps us assess an individual's risk of contracting disease before symptoms are present, has great potential to improve preventive health care. Indeed, with the recent passage of the Genetic Information Nondiscrimination Act, meant to protect Americans against discrimination based on their genetic information when it comes to health insurance and employment, use of this technology is poised to increase dramatically. However, these tests also create considerable uncertainties: they often generate unclear risk information that may lead to drastic and inappropriate medical choices. The best way to proceed with these technologies is to develop a national regulatory framework that would ensure their benefits while minimizing their risks.
Genetic testing for breast and ovarian cancer (known as BRCA testing), which was initially offered twelve years ago but continues to generate controversy today, illustrates many of the challenges associated with these technologies. This test analyzes the BRCA1 and 2 genes for mutations that are associated with increased risk of contracting breast and ovarian cancers. Observers have criticized the nationwide magazine, radio, and television advertising campaign launched by the provider of this technology. They worry that doctors' offices will be flooded with requests for a test that is only useful for a small fraction of individuals and that requires specialized counseling in order to be understood and used effectively. BRCA gene mutations explain only 5% of all breast cancers, for example, and the average lifetime risk of contracting cancer for an individual with a BRCA mutation can vary considerably, from 35-85% for breast cancer, and from 10-50% for ovarian cancer. Individualized risk information is not available. Furthermore, there is no "magic bullet" to eliminate cancer risks in BRCA "mutation-positive" individuals. Increased mammographic screening only detects cancers early, and both chemoprevention and preventive surgery bring serious risks themselves.
Banning or limiting direct-to-consumer marketing might control demand, but it would only partially solve the problems that these products raise. First, a test could still be commercialized and commonly used as soon as it is technically feasible to do so, even before its utility for patients is clear. This makes results even more difficult to understand. When BRCA testing was first offered in 1996, for example, the average lifetime risk of contracting breast cancer for an individual with a BRCA mutation was thought to range from 56-85%. Today, as noted above, the average lifetime risk of contracting breast cancer for an individual with a BRCA gene mutation is reported as 35-85%. This change is quite significant—a woman might make a different decision about removal of her breasts and ovaries today than she might have made ten years ago.
Second, patients will still not be guaranteed appropriate clinical care to help them interpret genetic test results. In many other countries, DNA testing, including BRCA gene analysis, must be coupled with specialized genetic counseling. This counseling provides patients with assistance in interpreting the complex risk information generated by genetic tests. In the US, however, no such counseling is required, and many physicians lack the advanced training in genetics and statistics needed to help patients develop an appropriate risk management program. This issue becomes critical because patients and their families are often particularly vulnerable at this time, overwhelmed by the burden of making such consequential decisions under intense emotional stress. Although scientific and medical organizations, government advisory committees, insurers, and patient advocates have developed recommendations to help physicians counsel patients, they differ significantly, muddying the picture further.
For genetic testing to provide the best possible benefit for the patient, we must develop a single approval process that will alleviate some of the burden now placed on physicians and patients. It should include review by an advisory committee (composed of geneticists, allied genetics professionals, specialists, molecular biologists, representatives of insurance companies, and patients) that would classify genetic testing as experimental until research has demonstrated its accuracy and utility. This process would ensure that all genetic tests improve clinical care and outcomes, and also provide a clear national standard for the prescription, referral, and use of each genetic test.
Those who oppose regulation emphasize the negative implications for an already overburdened FDA and a small genetic testing industry, and the absence of similar government involvement for other medical tests. Without a regulatory body, however, genetic testing may not have much of a future. In an environment of confusion and uncertainty about who should use genetic services, how results should be interpreted, and when testing might improve an individual's disease outlook, this field may not be able to establish a standardized place in everyday health care—effectively a waste of dynamic, relevant information. Creation of a federal approval process would help us understand the realistic promise of genetic medicine and determine what genetic testing technologies can and cannot tell us.

Shobita Parthasarathy is Assistant Professor at the Gerald R. Ford School of Public Policy and co-director of the Science, Technology, and Public Policy Program. She is the author of Building Genetic Medicine: Breast Cancer, Technology, and the Comparative Politics of Health Care (Cambridge, MA: MIT Press, 2007.)

Last update: November 2009