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

Physician Perceptions of the Limitations of Genomic Testing

Many barriers to genomic medicine may counterweight the potential clinical utility described above. Physician-level barriers will determine the rate of the adoption of genomic medicine and are multifaceted. Most important is the highly variable knowledge and comfort with genetic concepts broadly and their specific applications to clinical medicine, which have been reported in multiple studies.[13,15,19,28–29,33–36] For example, in a survey of US physicians including generalists and specialists, Selkirk et al. found that 79 and 69% of primary-care and nonprimary-care physicians, respectively, report that "lack of knowledge about genomic medicine" is a barrier to its incorporation in practice.[36] Similarly, Haga et al. found that, while only 43% of respondents to a survey of US primary care physicians reported inadequate knowledge of genomic testing, feeling well-informed about genomic testing was a very strong predictor of genomic test utilization (an odds ratio of 4.6 of ordering a genomic profile for a patient).[19] These survey findings are reflective of the experiences, described by Manolio et al., of leaders from several US genomic medicine centers who identified lack of understanding by clinicians among the barriers to adoption at those sites.[37]

Studies have inconsistently identified an association between age or time since medical school graduation and familiarity with genetic testing. Klitzman et al. found no association between decade of medical school graduation (from 1960–1969 through 2010–present) and experience ordering genetic tests of any kind among internal medicine physicians (generalists and specialists) at two US academic medical centers.[13] However, Stanek et al. found that the odds of using pharmacogenetic testing currently or within 6 months increased with each decade of age across surgical and nonsurgical generalists and specialists. Compared to those aged 20–39 years, physicians aged 40–49 years, 50–59 years, 60–69 years and 70 years or older had an odds ratio for adoption of pharmacogenetic testing of 1.41, 1.73, 2.16 and 2.62, respectively.[29] Similarly, Powell et al. found an odds ratio of 2.34 for awareness, perceived usefulness and preparedness to use DTC genetic testing comparing physicians 51 years old or older to those aged 41–50 years.[15]

While the above studies examined self-reported familiarity or use of genetic or genomic testing, Baars and colleagues used a questionnaire to test directly respondent knowledge of traditional genetic concepts and technology (as opposed to more recent genomic approaches) among Dutch physicians. Limited genetic proficiency was prevalent across physician age categories and specialties, with general practitioners, gynecologists, and pediatricians scoring 64, 75 and 81% on a genetic knowledge assessment, compared with 95% for clinical geneticists.[33] Educational efforts, particularly focused on the practical aspects of genomic medicine, may find a willing audience among physicians across disciplines.

Another physician-level barrier to the adoption of genomic testing is the challenge of incorporating an additional data modality into an already time-strapped physician-patient encounter. Specifically, surveys have identified that physicians perceive the time needed to appropriately counsel patients about genomic testing to be a significant burden. Najafzadeh et al. conducted a focus group of Canadian physicians addressing the benefits and barriers of genomic testing. Among the physician-level themes highlighted by their participants was "Additional time pressures that personalized medicine will put on clinical practice".[34] Similarly, among the themes highlighted by Arar et al. in their semistructured interviews with providers at a US Veterans Health Administration clinic were concerns about "Personnel and workload," "Time and length of the visit" and "General workflow".[18] Selkirk et al. found that 58% of physician respondents reported that the "Time required for patient education" was a barrier to adopting genomic testing.[36]

The unclear clinical benefit of genomic medicine is another barrier to its adoption. Participants in the Najafzadeh focus group raised concerns about the lack of clinical guidelines for the use of genetic tests.[34] In a national survey of US primary care providers with price-reduced access to genomic testing through a DTC testing company, Haga et al. found that 60–70% of respondents reported that "Uncertain clinical utility" was a reason they had not ordered testing for their patients.[19] Similarly, several of the other surveys described here identify the absence of guidelines directing the appropriate use of genomic testing for both clinical management and drug selection as a barrier to use.[13,29,36] Again, the findings in surveys of physicians reflect those reported by Manolio et al. in their review of the experiences at several US genomic medicine centers, in which they describe "lack of clinician acceptance" and "limited evidence and conflicting interpretation of benefit/value" as barriers to adoption at those sites where genomic testing is available.[37] The perceived limitations of genomic testing and barriers to adoption identified in the studies described here clearly define areas of future research and interventions – physician education and clinical systems that facilitate reviewing genomic test results with patients, for example – that may yield increased uptake of genomic medicine.

It is important to note that barriers to implementing genomic medicine may be present at least two other levels besides physicians: health systems and patients.[11] Barriers to genomic medicine can also occur at the interface between these levels, such as in patient-physician communication or physician navigation of the genomic medicine infrastructure of their health systems. The genomic medicine community will need to address barriers at all levels for the successful clinical integration of genomics.