Patient and provider perspectives on the development of personalized medicine: a mixed-methods approach

Abstract

While genetic testing gains adoption in specialty services such as oncology, neurology, and cardiology, use of genetic and genomic testing has yet to be adopted as widely in primary care. The purpose of this study is to identify and compare patient and primary care provider (PCP) expectations of genetics services in primary care. Patient and PCP perspectives were assessed through a mixed-method approach combining an online survey and semi-structured interviews in a primary care department of a large academic medical institution. A convenience sample of 100 adult primary care patients and 26 PCPs was gathered. The survey and interview questions focused on perceptions of genetic testing, experience with genetic testing, and expectations of genetic services in primary care. Patients felt that their PCP was knowledgeable about genetic testing and expected their PCP to be the first to recognize a need for genetic testing based on family history. Nonetheless, patients reported that PCPs rarely used family history information to discuss genetic risks or order testing. In contrast, PCPs felt uncertain about the clinical utility and scientific value of genetic testing. PCPs were concerned that genetic testing could cause anxiety, frustration, discrimination, and reduced insurability, and that there was unequal access to testing. PCPs described themselves as being "gatekeepers" to genetic testing but did not feel confident or have the desire to become experts in genetic testing. However, PCPs were open to increasing their working knowledge of genetic testing. Within this academic medical center, there is a gap between what patients expect and what primary care providers feel they are adequately prepared to provide in terms of genetic testing services.

History Repeating Itself? Concerns about [Genetic] Testing in Primary Care (Preprint)

“…[4] Additionally, primary care physicians report not being interested in moving towards expertise in genetic testing: "I don't see myself as branching out and being an expert." [5] "Impossible Sciences" [1] Resistance to incorporation of novel testing into patient workflow is not new. Practitioners in the early 20th century reported many of the same hesitations towards chemistry-based blood tests (such as complete blood counts, glucose and cholesterol measurement), which are now routinely incorporated into medical prediction and treatment in primary care and throughout medicine.…”

“…and then how to interpret the results." [5] "A little less science, and a little more art!" [1] Physicians resisted blood chemistry tests in the early 20th century, expressing "their concern over the possible harm done to the practice of medicine and to medical education by overdependence."…”

“…[1] Though this kind of attack on medical professionalism seems extreme, some of the same hesitation feeds into resistance to incorporating genetic testing: "I don't quite see that there is a clinical role for that at this point." [5] At best, genetic testing and interpretation is less important than other priorities, perceived as taking "time away from other things primary care physicians need to do." [5] "Our scope is way too big to know the latest and greatest on every little thing."…”

“…[5] At best, genetic testing and interpretation is less important than other priorities, perceived as taking "time away from other things primary care physicians need to do." [5] "Our scope is way too big to know the latest and greatest on every little thing." [5] In a worst-case scenario, some physicians worry about bad actors: "somebody is going to do something wrong with the information somewhere along the way."…”

“…[5] "Our scope is way too big to know the latest and greatest on every little thing." [5] In a worst-case scenario, some physicians worry about bad actors: "somebody is going to do something wrong with the information somewhere along the way." [5] As was the case with clinical chemistry's perceived "unchecked drift into the technologically thorough, sometimes obsessively complete workup of our patients" in the 1970s, [1] genetic testing is not considered to be "ready for 'prime time', routine use in primary care" in 2017.…”