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

Future Perspective

Several gaps in our understanding of how physicians might perceive and use genomic testing are amenable to study. The push to bring genomic technology to clinical medicine may be driven primarily by scientific and technological advances. Progress in the acquisition and analysis of genomic data has brought the promise of personalized medical care, but the agents of implementing genomic medicine at the bedside, physicians, have so far had a limited role in guiding that clinical implementation. While the studies reviewed here highlight a general optimism among physicians about the use and benefits of genomic medicine, particularly in the near future, the paucity of physicians who have actually ordered or have direct familiarity with genomic testing suggests that increasing physician exposure to genomic testing and understanding their responses to the capabilities of genomic technology is essential to capitalizing on their optimism. Numerous institutions have established genomic testing programs already, and unsurprisingly have faced many common challenges, at the patient, system and physician levels.[37] We propose several lines of inquiry that we feel would be fruitful over the next several years to better understand physicians' use of genomic medicine.

First, although not specifically examined in any of the surveys referenced here, the diversity of opinions on the possible uses of genomic data and the variable uptake of genomic testing in clinical care suggest that, even in circumstances when genomic information is available, it would be used in different ways by different providers. Recent work has focused on how patients use and respond to genomic data,[38] and a more direct examination of how physicians use their patients' genomic information would be similarly revealing.[39,40] As guidelines are lacking for the use and interpretation of genomic data, studying how physicians actually use genomic data would more concretely inform the perceived differential utility of specific forms of genomic data for clinical management, drug selection or counseling patient behavior. Recent studies have begun to address the real-life application of genomic data, including the technical aspects of the reliability of next-generation sequencing technology for clinical application, the challenges of identifying reportable findings, discussing sequencing results with patients and identifying how to support physicians.[41,42] Such studies move genomics out of theoretical survey space into an examination of actual clinical processes and will illuminate technical and interpretive aspects of the practical application of genomic data in the clinic.

Second, independent of how physicians use genomic data, it seems important to determine what, if any, gaps in current clinical care physicians might see as amenable to the implementation of genomic technology. What are the current challenges they face in clinical medicine for which genomic medicine may be a part of the solution? A similar approach has been suggested specifically for the application of genomics to cancer diagnosis, prognosis, and personalization of treatment.[43] It would be helpful to assess what interpretation or implementation aids, professional society guidelines or expert referrals would be most useful to physicians using genomic tools. Scientific progress and the increasing availability of genomic medicine have not yet been sufficient to penetrate clinical practice, suggesting, unsurprisingly, a need to understand a translational step that bridges scientific discovery and clinical care delivered by physicians. Most importantly, this type of implementation research is best done in the context of actual genomic data pertaining to actual patients. The barriers to the adoption of genomic medicine and high-yield points of intervention are likely to be most clearly revealed when examined in their clinical context rather than in the form of a hypothetical survey instrument.

Third, the findings of several of the surveys described here make clear that physicians do not use the results of genomic testing to guide clinical management even when they feel knowledgeable about genomic concepts, demonstrated in surveys addressing pharmacogenetic testing prior to warfarin initiation. That familiarity and even comfort with genomic medicine are inadequate for its appropriate application suggests other barriers to adopting this new technology in clinical practice. Unlike health systems-level barriers to genomic testing in clinical practice, the disregarding or misapplication of genomic testing when it is available suggests a limitation at the level of the physician that, if understood better, might be reversible. Further research into how practicing physicians actually use genomic testing might enable them to have a voice in the discussion of how best to use new genomic discovery to improve patient health and wellbeing.