Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists

Abstract

Introduction: Primary care physicians (PCPs) are considered the gatekeepers of genetic services, but they often underutilize or inappropriately utilize such services, leading to lack of early treatment, incorrect diagnoses, and unnecessary procedures. This study aims to delineate PCP referral patterns, including the frequency of, motivators for, and barriers to genetic referrals and testing in the present landscape of genomics. Methods: A 34-item online survey was distributed to PCPs in the United States (US). PCP demographics, practice characteristics, and referral patterns, motivators, and barriers were analyzed. Six hypothetical clinical scenarios included in the survey also were presented to a cohort of clinical geneticists. We calculated PCPs’ rates of ordering genetic tests and of referral to genetics services in the past year. Rates and responses to clinical scenarios were compared based on respondents’ personal and practice characteristics. Results: A total of 95 PCPs and 25 clinical geneticists participated. Among the PCPs, 79% reported referring and 50% reported ordering genetic testing in the last year. PCPs with genetic counselors (GCs) in their clinic referred at significantly higher rates than those without ( P = .008). White PCPs referred at significantly higher rates compared to Black or African American PCPs ( P = .009). The most commonly reported motivators for referring patients to genetic services were preference for specialist coordination, lack of knowledge, and family’s desire for risk information. The most commonly reported barriers were patient refusal, provider concerns about costs to patients, and uncertainty of when a genetic referral is appropriate. In response to clinical scenarios, clinical geneticists were in agreement about the need for genetic testing or referral for 2 of the scenarios. For these 2 scenarios, only 48% and 71% of PCPs indicated that they would offer genetic testing or referral, respectively. Conclusions: Responses to clinical scenarios suggest that it is not clear to PCPs when referrals or testing are needed. Collaboration with GCs is one approach to reducing barriers to and improving PCPs’ utilization of genetic services. Clear guidelines from clinical geneticists may help facilitate appropriate use of genetics services by PCPs. Additional research is needed to further describe barriers that PCPs face in genetic testing/referrals.

Primary Care Providers’ Use of Genetic Services in the Southeast United States: Barriers, Facilitators, and Strategies

“…Another proposed resource was guidelines for testing or referrals, which has been identified in previous literature. 18 In some cases, guidelines are available and need to be made more accessible; however, other indications do not have existing or up-to-date guidelines. In either case, clear and available guidelines for genetic referrals and testing are a desired resource to direct PCPs in their referral-making decisions.…”

“… 17 In many cases, PCPs report needing clear guidance from clinical geneticists or GCs on when to refer. 18 …”

“…17 In many cases, PCPs report needing clear guidance from clinical geneticists or GCs on when to refer. 18 Prior research has identified many barriers to PCPs' ability to provide genetic services. Some of these barriers include limited genetics knowledge, lack of formal genetics training, lack of time/resources, and patient concerns.…”

“…20,21 While prior survey-based research demonstrated barriers to PCPs incorporating genetic services into their practice, limited information is available regarding PCPs' perspectives of their role in providing genetic testing and their opinions regarding resources that would reduce barriers and empower PCPs. 18 The purpose of the present study is to identify provider perspectives in the Southeastern US, using in-depth semi-structured interviews. This study aims to explore specific barriers limiting provision of genetics services by PCPs, especially those serving underrepresented patients, and to identify resources that would address those barriers.…”

Potentials and challenges of launching the pilot phase of Hong Kong Genome Project

“…Perceived difficulties and inadequateness do not only originate from patients. Studies also showed that frontline clinicians felt unequipped to make accurate referrals [13][14][15] . A recent local study on the attitudes and clinical practices of primary care physicians (PCPs) showed that 68% (104/151) of the surveyed PCPs in both public and private service organisations did not know the referral pathway for patients with suspected or confirmed genetic disorders [16] .…”