Case study
Generation and Implementation of a Patient-Centered and Patient-Facing Genomic Test Report in the EHR
Authors:
Jessica M. Goehringer ,
Genomic Medicine Institute, Geisinger, Danville, PA, US
About Jessica M.
As a senior genetic counselor, I have provided clinical genetic counseling in multiple specialty areas including prenatal, pediatrics, cancer neuromuscular, and other specialty areas. One of my main interests is alternative genetic counseling delivery models to better serve the patient population. I championed the establishment of a group prenatal education appointment and, during a time of departmental transitions, established new clinical and administrative flows at two large academic centers to better accommodate the patients. In a rural medical center that serves a large geographical region, I worked to coordinate the integration of a telemedicine program. The program provided a means for patients to receive genetic counseling despite being remotely located and with one or more children (typically) with extensive health and behavioral needs. Another professional interest is utilization of web applications to collect and deliver genetic/genomic information. I have worked with an entrepreneur on a platform to deliver complex information to patients, as well as to serve as a summary for providers with little genetics expertise. In addition, I have assisted in the gathering and authoring of web content on several genetics-related web sites geared at both patients and providers. Along with clinical expertise, I have also gained experience in genetics research. I coordinated and tracked recruitment and specimen acquisition, as well as provided genetic counseling to patients as part of a multi-center myopathy/muscular dystrophy research project. I participated in genotype- and phenotype-first research with a focus on monogenic diabetes, where I have conducted return of result sessions with patients and their families. Within the eMERGE (Electronic Medical Record and Genomics) Network, I am participating in researching and authoring genomic report templates on 80 actionable genes that will be used to return results to patients who consented to participate in the MyCode Community Health Initiative, one of the largest precision medicine programs in the country. In addition, I will be returning results to patients who have pathogenic variants in MODY or collagen genes. As a personal and profession goal, I strive to improve the recognition of genomic disease by both patients and providers and help genomic medicine to be a discipline less foreign to many providers within the health care system. The adoption of precision medicine by the larger medical community has the potential to fuel tailored and appropriate medical care to patients in the future.
Michele A. Bonhag,
Patient Co-investigator, Chase Group, Ltd, Traverse, Michigan, US
Laney K. Jones,
Center for Pharmacy Innovation and Outcomes, Geisinger, Danville, PA, US
About Laney K.
Dr. Jones is an assistant professor at Geisinger's Center for Pharmacy Innovation and Outcomes. Dr. Jones aims to evaluate and implement innovative evidence based approaches to care with a focus on pain management, pharmacy services, and hyperlipidemia management, specifically in patients with genetically identified familial hypercholesterolemia. Dr. Jones uses a mixed methods approach and utilizes her background in pharmacy and public health to inform and advance her research.
Tara Schmidlen,
Genomic Medicine Institute, Geisinger, Danville, PA, US
About Tara
I am a Clinical Investigator and Genetic Counselor at Geisinger. Since joining the Genomic Medicine Institute in February 2017, I have been working on the MyCode Community Health Initiative, the Detecting Cancers Earlier Through Elective Mutation-Based Blood Collection and Testing (DETECT) study, and as a cancer and cardiovascular disease genetic counselor. I earned my Bachelor of Science degree in Biobehavioral Health from The Pennsylvania State University in 2002, a Master of Science degree in Genetic Counseling from Arcadia University in 2006, and certification by the American Board of Genetic Counseling in 2007. I have 12 years of experience with telephone-based genetic counseling, research biobanking, precision medicine, pharmacogenomics, and complex disease genetics. Prior to joining Geisinger, I worked for the Coriell Institute for Medical Research in Camden, NJ as a research genetic counselor for the Coriell Personalized Medicine Collaborative and for the NIGMS Human Genetic Cell Repository. Earlier in my career, I worked as a laboratory genetic counselor providing telephone based genetic counseling for common complex diseases at Kimball Genetics in Denver, Colorado and as a genetic coordinator facilitating testing and case management for reproductive and pharmacogenetic testing at Genzyme Genetics in Westborough, Massachusetts. My research interests include: genetic knowledge, numeracy, lifestyle and health behavior change in response to genetic risk information, pharmacogenomics, and the development of novel genomic counseling service delivery models that leverage technology to improve patient education and streamline the genetic counseling process.
Marci Schwartz,
Genomic Medicine Institute, Geisinger, Danville, PA, US
About Marci
After completing the Johns Hopkins/NHGRI Genetic Counseling Training program I wanted a position that enabled me to pursue my interest in clinical research while still providing direct patient care. Geisinger was a great fit because I get to do both in a supportive environment with a thriving genetics community. I have been at Geisinger for more than two years now and I am based in the Forty Fort Precision Health Center in Northeastern Pennsylvania. I have seen patients for both cancer and cardiovascular indications ascertained through a novel genotype-first screening program and more traditional phenotype-driven referrals. Seeing patients through a genotype-first approach has been a uniquely challenging experience because it has highlighted the limitations of traditional risk assessments to detect at-risk individuals before disease onset and caused me to think critically about historical methods of genetics service provision. I have also been empowered to investigate clinical questions I find intriguing, submit abstracts to conferences and write and serve as an author on scientific research articles. This has enabled me to publish my first, first-author publication and give both platform and poster presentations at national meetings.
Alanna Kulchak Rahm,
Genomic Medicine Institute, Geisinger, Danville, PA, US
About Alanna Kulchak
My overall focus is the implementation of genomic technologies and family history collection into clinical practice. I have conducted single- and multi-site studies in integrated healthcare systems since 2002 using qualitative and mixed-methods approaches. I have been actively involved in the Healthcare Systems Research Network (HCSRN) and Cancer Research Network (CRN), and have recently become active in the Electronic Medical Records and Genomics (eMERGE) Network. I have participated in the NIH Training for Dissemination and Implementation in Health (TIDRH) and currently serve as a Merit Review Panelist for the PCORI Communications and Dissemination Research (CDR) and Dissemination and Implementation (D&I) Panels. At Geisinger, I study implementation of genomics within the learning healthcare system, models of genetic service delivery; including implementation of family history and risk assessment programs and Universal Lynch syndrome screening, communicating genetic test results, familial implications of genetic test results, patient and provider understanding of genomics, and patient engagement in research.
Janet L. Williams,
Genomic Medicine Institute, Geisinger, Danville, PA, US
About Janet L.
I am a genetic counselor with experience in multiple clinical settings. This has afforded me a rich set of experiences with patients and their families as well as a variety of interactions through the years with providers. Since coming to Geisinger as an investigator, I am interested in how to educate and consent individuals for genomic sequencing applications. In addition, I am interested in how best to reach providers with the information that they need to incorporate genomic information into routine care for patients. This requires new approaches to communicate with patients and providers as well as new methods to access huge amounts of data, theoretically throughout an individual’s lifetime. There are informatics challenges which involve the physical storage of the data, but also the question of the preferences on the part of providers and patients (and their family members) as to long term access and application of the information gathered. As a researcher in the Electronic Medical Records and Genomics (eMERGE) Network I have participated in the development and administration of a national survey designed to assess patient willingness to participate in a biorepository given policies on data sharing, public access and governance. I am currently working on assessing the perspective of healthcare providers regarding the receipt of unsolicited genomic information for their patients via the electronic health record, using qualitative and quantitative methods. Cascade screening is a vital outcome of the return genomic results which enables the identification of at risk individuals and significantly increases the opportunity for prevention of high risk conditions. Genetics professionals struggle to effectively reach family members. Through the MyCode return of results and the eMERGE return of genomic results, we are studying patients’ views on how best to reach and inform family members with the aim to improve the overall uptake of genetic testing and adherence to appropriate screening and prevention activities. I am an investigator in the whole genome sequencing clinical research study. Enlisting the partnership of patients and providers in designing reports to covey genome sequencing results is the focus of a project funded through the Patient Centered Outcome Research Institute (PCORI) as a Communication and Dissemination award. The work has led to development of a web-enabled enhanced report available to patients and providers through access to the electronic health record.
Marc S. Williams
Genomic Medicine Institute, Geisinger, Danville, PA, US
About Marc S.
Marc S. Williams, MD, FAAP, FACMG is an alumnus of the University of Wisconsin-Madison having graduated with a BS in Chemistry in 1977, and an MD in 1981. He did a pediatric residency at the University of Utah from 1981-1984. After two years of solo practice in Hillsdale, Michigan, he joined the Riverside (California) Medical Clinic as a general pediatrician and practiced there until 1991. From 1991 Dr. Williams was at the Gundersen Lutheran Medical Center in La Crosse, WI. Hired as a general pediatrician, he eventually pursued fellowship training in Clinical Genetics, and was board certified in this specialty in 1996 and recertified in 2006. He was board certified in clinical informatics in 2014. In 1999, he gave up general pediatric practice and became the associate medical director of the Gundersen Lutheran Health Plan while maintaining his genetic practice. It was by combining these two areas of expertise that he developed an interest in the role of genetics in health care delivery. He has published and presented extensively on this topic. From January of 2005 to December 2011 he was the director of the Intermountain Healthcare Clinical Genetics Institute in Salt Lake City, Utah. As of January 2012, he has been the director of the Genomic Medicine Institute of the Geisinger Health System in Danville, Pennsylvania. He is the co-PI of the Geisinger Electronic Medical Records in Genomics (eMERGE) project, is PI on the PCORI-funded Patient Facing Genomic Test Report research project, is a co-investigator on the NHGRI-funded ClinGen project (leading the EHR integration efforts) and is the medical director of the whole genome sequencing clinical research project. He represents Geisinger Health System on the NHGRI funded Genomic Medicine working group. He served as a director of the board of the American College of Medical Genetics and Genomics from 2006 and in 2009 was elected Vice-President of Clinical Genetics of the College a term that ended in 2013. He has participated in the Personalized Medicine Workgroup of the Department of Health and Human Services’ American Health Information Community Task Force, chaired the CDC’s EGAPP Stakeholder’s Group, was a member of the CDC’s CETT program review board and the Secretary’s Advisory Committee for Genetics, Health and Society, having previously served on the Coverage and Reimbursement Task Force of that group. He is a member of the EGAPP working group. He is past chair of the Committee on the Economics of Genetic Services of the American College of Medical Genetics, as well as chair of the subcommittee on Health Care Systems of the Section on Genetics and Birth Defects of the American Academy of Pediatrics. He founded the American College of Medical Genetics Quality Improvement Special Interest Group. He is the Editor-in-Chief of the Manual on Reimbursement for Medical Genetic Services. He is a member of the Clinical Pharmacogenetic Implementation Consortium and has participated in guideline creation and review for that group as well as participating in the informatics workgroup. He is a member of genomic special interest groups of the American Medical Informatics Association and Epic electronic health records. He is the Geisinger Health System representative to the governing board of the Health Care Systems Research Network (formerly the HMORN) and the Clinical Decision Support Consortium. He has authored over one hundred articles in the peer-review medical literature and recently co-authored a book, Economic Evaluation of Genomic Medicine. He is a frequent presenter at national and international meetings.
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.
How to Cite:
Goehringer JM, Bonhag MA, Jones LK, Schmidlen T, Schwartz M, Rahm AK, et al.. Generation and Implementation of a Patient-Centered and Patient-Facing Genomic Test Report in the EHR. eGEMs (Generating Evidence & Methods to improve patient outcomes). 2018;6(1):14. DOI: http://doi.org/10.5334/egems.256
