Generation and Implementation of a Patient-Centered and Patient-Facing Genomic Test Report in the EHR

Abstract

Context:Communication of genetic laboratory results to patients and providers is impeded by the complexity of results and reports. This can lead to misinterpretation of results, causing inappropriate care. Patients often do not receive a copy of the report leading to possible miscommunication. To address these problems, we conducted patient-centered research to inform design of interpretive reports. Here we describe the development and deployment of a specific patient-centered clinical decision support (CDS) tool, a multi-use patient-centered genomic test report (PGR) that interfaces with an electronic health record (EHR).Implementation Process:A PGR with a companion provider report was configured for implementation within the EHR using locally developed software (COMPASS™) to manage secure data exchange and access.Findings:We conducted semi-structured interviews with patients, family members, and clinicians that showed they sought clear information addressing findings, family implications, resources, prognosis and next steps relative to the genomic result. Providers requested access to applicable, available clinical guidelines. Initial results indicated patients and providers found the PGR contained helpful, valuable information and would provide a basis for result-related conversation between patients, providers and family.Major Themes:Direct patient involvement in the design and development of a PGR identified format and presentation preferences, and delivery of relevant information to patients and providers, prompting the creation of a CDS tool.Conclusions:Research and development of patient-centered CDS tools designed to support improved patient outcomes, are enhanced by early and substantial engagement of patients in contributing to all phases of tool design and development.

Clinical Utilization of Pharmacogenetics in Psychiatry – Perspectives of Pharmacists, Genetic Counselors, Implementation Science, Clinicians, and Industry

“…In some settings and locations, pharmacists may also order PGx testing and communicate the results to the clinician and/or patient [23,24]. Ideally, PGx test results are available in EHRs as well as incorporated into alerts, but this capability is severely lacking in psychiatry [72].…”

Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network

“…The need to provide information that is both portable and easy to understand remains an ongoing challenge in medical genetics. Prior qualitative studies document participants' desire for a permanent record of genetic findings (a) that is easy to understand, (b) outlines what they need to do to use the genetic results to improve their healthcare, and (c) that is portable to the various different healthcare settings that they may visit and that use different EHR systems [14][15][16]. While our study does not provide definitive evidence for the best practices in letter writing, it does identify several potential elements to be considered for effective written communication to participants in large-scale genomic research (Table 5).…”

“…Quantitative measures included word count, the number of words per sentence, the number of sentences per paragraph, the percentage of sentences that used the passive voice, the number of URLs to additional resources, and the Flesch-Kincaid reading grade level. To account for the use of definitions and explanations of medical jargon, each appearance of the defined term was replaced by the word "cat" before the Flesch-Kincaid reading grade level was assessed [14].…”

“…Additionally, there has been little standardization of the methods for communicating sequencing results to participants. Some research groups have developed patient-friendly genomic test reports [14][15][16][17]. Such communication may also be supported by ancillary materials such as educational brochures and websites or opportunities to follow up with a genetics professional in person.…”

Genetic Counseling, Personalized Medicine, and Precision Health

“…In 2015, MyCode began to consent patients for return of results for clinically actionable findings following extensive discussions and assessments by the clinical and bioethics teams, community advisory groups, and scientific leaders, as well as patient-participant focus groups (Faucett and Davis 2016). The My-Code Initiative has enabled the study of the return of results protocols and processes in the context of population screening (Schwartz et al 2018), as well as patient-centric initiatives such as patient-facing genomic (Goehringer et al 2018) and pharmacogenomic (Jones et al 2018) laboratory reports. MyCode has also generated data on the prevalence of familial hypercholesterolemia (Abul-Husn et al 2016), hereditary breast and ovarian cancer (Manickam et al 2018), and arrhythmogenic right ventricular cardiomyopathy (Haggerty et al 2017) in an unselected health system research population.…”