Are physicians prepared for whole genome sequencing? a qualitative analysis

Abstract

Background Although the integration of whole genome sequencing (WGS) into standard medical practice is rapidly becoming feasible, physicians may be unprepared to use it. Methods Primary care physicians (PCPs) and cardiologists enrolled in a randomized clinical trial of WGS received genomics education before completing semi-structured interviews. Themes about preparedness were identified in transcripts through team-based consensus-coding. Results Data from eleven PCPs and nine cardiologists suggested that physicians enrolled in the trial primarily to prepare themselves for widespread use of WGS in the future. PCPs were concerned about their general genomic knowledge, while cardiologists were concerned about how to interpret specific types of results and secondary findings. Both cohorts anticipated preparing extensively before disclosing results to patients by using educational resources with which they were already familiar, and both cohorts anticipated making referrals to genetics specialists as needed. A lack of laboratory guidance, time pressures, and a lack of standards contributed to feeling unprepared. Discussion Physicians had specialty-specific concerns about their preparedness to use WGS. Findings identify specific policy changes that could help physicians feel more prepared, and highlight how providers of all types will need to become familiar with interpreting WGS results. Clinical Trials Registration ClinicalTrials.gov # NCT01736566.

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients

“…Before enrolling patients, PCP participants underwent a brief educational curriculum consisting of 4 hours of case-based online modules and 2 one-hour in-person group classes, including an orientation to the genome report, described previously(9). During the study, PCPs had the opportunity to contact a Genome Resource Center (GRC) staffed by medical geneticists and genetic counselors affiliated with the study to ask questions about patients’ results.…”

“…Compared to simpler gene- or gene panel-based testing, whole-genome sequencing (WGS) brings additional complexity in the different types of results it can deliver, ranging from monogenic disease risk (MDR) results indicating risk for Mendelian diseases to common risk alleles with small effect sizes for complex polygenic conditions. While sequencing is still predominantly the province of genetics specialists, its expansion in this era of limited healthcare resources, including access to genetics professionals, evokes concern—namely, whether non-geneticist physicians and primary care physicians (PCPs) in particular can manage genomic information appropriately(7–9) and the degree to which the clinical integration of genomics enables early disease detection and prevention or leads to anxiety and unnecessary and costly follow-up evaluation and management(10, 11). …”

Are Genetic Tests for Atherosclerosis Ready for Routine Clinical Use?

“…As this information becomes increasingly available, the question changes from whether to incorporate genetic markers to how best to manage the genetic information already available. Currently, clinicians have concerns about standards for interpretation of genome sequence information 141 reflected in the American College of Medical Genetics guidelines, where difficulties in communication around findings related to complex diseases are noted and classification of these results as other findings or risk alleles with qualifications based on the level of evidence is recommended. 142 Nonetheless, methods of incorporation of genetic information into clinical practice are being studied in multiple targeted trials mentioned above, as well as more general initiatives, such as the Vanderbilt Pharmacogenomic Resource for Enhanced Decisions in Care & Treatment (PREDICT) program.…”

Implementing genetic education in primary care: the Gen-Equip programme

“…Primary care providers are currently challenged to identify patients whose symptoms, physical findings, or family history indicates the need for genetic diagnosis and/or testing, to determine how to use genetic information most effectively to improve disease prevention and to target different options for disease management (Carroll et al, 2016;Christensen et al, 2016;Lopes-Júnior et al, 2016). Primary healthcare professionals face substantial challenges in utilizing genetic information, namely translating genetic risk into clinical action (Christensen et al, 2016).…”

“…Primary healthcare professionals face substantial challenges in utilizing genetic information, namely translating genetic risk into clinical action (Christensen et al, 2016). It is unsurprising therefore that full integration of genomic medicine in primary care settings has been slow to materialise (Rahimzadeh & Bartlett, 2014).…”