Gatekeepers or Intermediaries? The Role of Clinicians in Commercial Genomic Testing

Abstract

BackgroundMany commentators on “direct-to-consumer” genetic risk information have raised concerns that giving results to individuals with insufficient knowledge and training in genomics may harm consumers, the health care system, and society. In response, several commercial laboratories offering genomic risk profiling have shifted to more traditional “direct-to-provider” (DTP) marketing strategies, repositioning clinicians as the intended recipients of advertising of laboratory services and as gatekeepers to personal genomic information. Increasing popularity of next generation sequencing puts a premium on ensuring that those who are charged with interpreting, translating, communicating and managing commercial genomic risk information are appropriately equipped for the job. To shed light on their gatekeeping role, we conducted a study to assess how and why early clinical users of genomic risk assessment incorporate these tools in their clinical practices and how they interpret genomic information for their patients.Methods and FindingsWe conducted qualitative in-depth interviews with 18 clinicians providing genomic risk assessment services to their patients in partnership with DNA Direct and Navigenics. Our findings suggest that clinicians learned most of what they knew about genomics directly from the commercial laboratories. Clinicians rely on the expertise of the commercial laboratories without the ability to critically evaluate the knowledge or assess risks.ConclusionsDTP service delivery model cannot guarantee that providers will have adequate expertise or sound clinical judgment. Even if clinicians want greater genomic knowledge, the current market structure is unlikely to build the independent substantive expertise of clinicians, but rather promote its continued outsourcing. Because commercial laboratories have the most “skin in the game” financially, genetics professionals and policymakers should scrutinize the scientific validity and clinical soundness of the process by which these laboratories interpret their findings to assess whether self-interested commercial sources are the most appropriate entities for gate-keeping genomic interpretation.

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

“…In one study of interviews conducted with clinicians who offered genomic-risk assessment to patients, the clinicians appeared to have learned most of what they know about genomics directly from the commercial laboratories. 36 In the absence of professional counseling and interpretation, there are concerns that consumers might make misguided changes in their health care or lifestyle. 37 Fortunately, empiric studies of DTC GT to date have shown little or no evidence of inappropriate changes in lifestyle or health-related behaviors.…”

Personal genomic testing for nutrition and wellness in Australia: A content analysis of online information

“…Thus, many HPs have no choice but to rely on the testing companies for training and support. Already, interviews with North American HPs who facilitated health‐related PGT with their patients revealed that most relied heavily upon testing company resources to counsel their patients . As with HPs using testing company information for their own websites, this reliance represents a conflict of interest, such that clients may receive biased or inadequate advice.…”

“A rising tide lifts all boats”: establishing a multidisciplinary genomic tumor board for breast cancer patients with advanced disease

“…As Parker and colleagues have also suggested [15], bolstering the attendance and engagement of professionals from medical genetics and pharmacology are especially warranted to increase substantive expertise and understanding of genetics and drug pathways. The potential for dependence on commercial laboratory interpretation of test results poses a problem for the rapid integration of un(der)-validated genomic tests, posing risks to the integrity of clinical judgment and patient care [5]. This may be especially important if the MGTB is to avoid overreliance on the commercial laboratory’s interpretation of genomic test results, a concern raised both by physician-scientists and basic scientists who noted the group’s relatively uncritical acceptance of the validity of (FoundationOne TM ) results.…”

“…However, despite the rapid integration of genomic tests [4], care paths for using test results to guide treatment do not yet exist. Given concerns regarding insurance coverage and cost effectiveness of genomic testing and uncertain ethical implications of genomic information, establishing protocols for administering and delivering genomic risk information to patients is important [2, 5, 6]. …”