Do Physicians Think Genomic Medicine Will Be Useful for Patient Care?

Sridharan Raghavan; Jason L Vassy


Personalized Medicine. 2014;11(4):425-433. 

In This Article

Risk Stratification

In the Grant et al. study, greater than 70% of surveyed physicians reported either somewhat or very positive impressions of genetic testing to assess common disease risk, while only 22% of the same physicians would be very likely to recommend a patient for a genetic test to assess diabetes risk. While that survey focused on Type 2 diabetes as a paradigm for the application of genomic testing to common chronic disease care, the findings highlighted a discrepancy between generally positive attitudes about genomic testing and uncertainty about its specific application to risk stratification and clinical decision-making.

The survey by Bernhardt et al. presented primary care physicians with hypothetical DTC results reports indicating increased patient risk for Alzheimer's disease and glaucoma and average or reduced risk of Type 2 diabetes and cardiovascular disease. They found that 40% of physicians believed genomic testing can be helpful for clinical management, and 43% of respondents said that they would alter clinical management of a theoretical patient on the basis of these genetic testing results.[12] Physicians' free-response comments to the survey suggested potential ways that genomic testing might affect clinical management, such as increasing disease-specific clinical exams like mental status or eye exams. With regard to diabetes and cardiovascular disease, respondents suggested that genomic test results might change the frequency of laboratory testing and could motivate them to counsel healthier lifestyles. In the specific survey scenario of average or decreased diabetes and cardiovascular disease risk, physicians notably did not anticipate using the low-risk genomic testing result to reduce screening frequency.

Similarly, in the survey by Powell et al., 42% of respondents who were familiar with DTC tests felt that they could be useful for clinical care.[15] Among those who responded affirmatively about the benefit of DTC tests, approximately 80% said that they would use test results to screen at an earlier age and more frequently individuals at high genetic risk, although specific diseases were not enumerated in the survey. In the Mainous et al. survey of family practitioners, respondents reported greater utility for applying genomic testing to counsel patients about disease risk for breast cancer (94.9%) and hemochromatosis (74.9%) than for diabetes (25.2%), Alzheimer's disease (30.3%) or cardiovascular disease (25.4%).[17]

Taken together, recent physician surveys show reasonably positive attitudes regarding the value of genomic testing for clinical management generally and guiding screening initiation and frequency specifically. The dichotomization of diseases into categories for which genomic testing has greater or lesser potential benefit mirrors the distinction between diseases with single or few well-characterized disease-causing genetic variants and those for whom variation across the entire genome might contribute in some way to disease risk.