Viewpoint

Beyond Data: How precision medicine is revolutionizing EMRs and patient care

by Mahmudul Mannan

Graphic design by Anaiah Reyes

On a chilly morning in November 2020, 12-year-old Erica’s parents arrived at the pediatric intensive care unit at Toronto’s SickKids Hospital. Erica carries a CYP2C9 gene variant and was diagnosed with arrhythmia 5 years prior, taking Warfarin to reduce blood clot risk. However, after taking penicillin for an ear infection, the interaction between the medications and this gene resulted in Erica being hospitalized with an acute subarachnoid hemorrhage. Erica’s suffering could have been avoided if her genomic information from her hometown in Calgary was integrated into her electronic medical record (EMR) at SickKids.

This case highlights a limitation of precision medicine in Canada’s EMRs, as electronic patient records in Ontario are not interlinked with other provinces. Precision medicine, a popular topic nowadays, is also known as “personalized medicine,” “targeted therapy,” or “evidence-based medicine.” It is derived from patients’ health, genomic, lifestyle, and environmental data.2-5 Precision medicine is innovative to healthcare, transforming the traditional “one-size-fits-all” paradigm of treatments to one based on patients’ unique data.2,3 This shift aims to improve care using focused treatments for complex illnesses like diabetes, cancer, and cardiovascular disease. Successfully integrating these various types of patient-specific data into EMRs is crucial for precision medicine to reach its full potential.

Precision medicine and EMRs offer more than just data integration, they have the potential to enhance preventive care, optimize treatment efficacy, and improve patient outcomes. Government funders, healthcare systems, and industry partners have been collaborating to support the growth of EMR-linked biobanks for personalized medicine research and implementation. For example, the US-based National Human Genome Research Institute (NHGRI) established a program called the “Electronic Medical Records and Genomics (eMERGE)” network in 2007. Its purpose was to link biobanks to EMRs at multiple sites, perform genomic research embedded in health systems, and establish best practices replicable across health systems.6 In 2015, “2bPrecise” was created as a cloud-based platform to leverage genomic data .7 Additionally, in 2016, Mount Sinai Health System and Regeneron Pharmaceuticals Inc. linked clinical information stored within the EMR to whole exome sequencing on 33,000 DNA and plasma samples, housed in Mount Sinai’s Biobank.8 In Canada, there are multiple EMRs and databases available, including EPIC, Cerner, and AdminData.2,3 In October 2022, Precision Health’s “Health Implementation” group, from the University of Michigan launched “The Epic Genomics Indicator Module (EGIM)” electronic health record (HER) “MiChart.”9 These are just some examples of successful integration of precision medicine in different EMRs.

Precision data consists of four domains: patient health, omics (genomics, metabolomics), lifestyle, and environmental data.3 In a recent interview, personalized medicine expert, Dr. Abbas Zavar, stresses that social determinants of health (SODH) should also be added as a domain, such as aboriginal status and education history.3 Among these domains, patient health and omics data are most widely available in Ontario EMRs. In Ontario, health data are stored in electronic health information systems and come from various sources, such as hospitals, community clinics, and medical laboratories. Hospital data systems were revolutionized when the “EPIC” platform launched in June 2018. Before that, genomic data was available in ChartMaxx, an electronic repository of clinical, financial, and administrative information10, but its reliance on clinical and lab records limited its ability to store genetic data. Genetic, or “Omics” data, is generated from several areas of patients’ biology, including genetic (genomics), protein (proteomics), and metabolic levels (metabolomics). 2 This data comes from community-level labs such as LifeLabs and Dynacare, as well as hospital and private laboratories, and can be used for diagnostic, treatment, or research purposes. However, lifestyle, environmental and SODH data are not commonly available in EMRs yet.

Precision medicine through EMRs enhances patient care in different ways. By utilizing patient-specific data, precision medicine enables the development of personalized treatment plans tailored to each patient’s unique profile. For example, the efficacy of breast cancer treatment can depend on whether patients have BRCA1 or BRCA2 genetic variants. Oncologists can customize treatment plans by integrating genetic information into an EMR, improving patient outcomes. Pharmacogenomic data in EMRs enables tailoring prescriptions based on genetic factors that impact drug metabolism, potentially reducing adverse effects.11 Furthermore, with precision medicine predictive analytics, EMRs can generate recommendations for patients at risk of developing certain diseases, such as diabetes, hypertension, and nephrotic syndrome.2,11

Despite the progress of precision medicine integration into EMRs, several challenges remain. Data standardization and interoperability, complexity in interpretation, data privacy and security, data sharing, and data storage pose complications in implementing precision medicine into EMRs.2,12 Precision data are captured in EMRs in different formats, including health level 7 (HL7), Snowman, and international classification of disease (ICD 9/10) diagnosis.2 In 2024, scientists expected  health data to generate up to 10 billion exabytes of storage, necessitating secure cloud-based data storage systems. Genomic data is also highly sensitive and integrating it into EMRs raises privacy and security concerns. In Ontario, the Personal Health Information Act (PHIPA), and in Saskatchewan, the Health Information Protection Act (HIPA) laws, mandate strict regulations to protect patient data and ensure data privacy. Therefore, most identifiable data are unavailable in EMRs, and data accessed for research purposes must follow rigorous privacy procedures.

A paradigm shift in healthcare is being brought about by the integration of precision medicine into EMRs, which go beyond conventional models to adopt individualized and data-driven treatment strategies. These changes will empower healthcare professionals with vital patient-specific information to prevent illness, customize care, and enhance patient outcomes. Despite remaining issues with data standardization, privacy, and resource limitations, precision medicine holds enormous potential for moving away from generalized treatment toward embracing the unique health journey of each individual.

References

  1. Limdi NA, McGwin G, Goldstein JA, et al. Influence of CYP2C9 and VKORC1 1173C/T genotype on the risk of hemorrhagic complications in African-American and European-American patients on warfarin. Clin Pharmacol Ther. 2008;83(2):312-21.
  2. 2.     Zavar A, Keshavjee K, Ling S, et al. Preparing for Precision Medicine in Ontario: A Current State Assessment. 2022.
  3. 3.     Zavar A. Personalized medicine in electronic medical recods (EMRs). In: Mannan M, editor. 2024.
  4. 4.     König IR, Fuchs O, Hansen G, et al. What is precision medicine? European Respiratory Journal. 2017;50(4):1700391.
  5. 5.     Sitapati A, Kim H, Berkovich B, et al. Integrated precision medicine: the role of electronic health records in delivering personalized treatment. WIREs Systems Biology and Medicine. 2017;9(3):e1378.
  6. 6.     Gottesman O, Kuivaniemi H, Tromp G, et al. The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genetics in Medicine. 2013;15(10):761-71.
  7. 7.     2bPrecise. Who is 2bPrecise 2021 [Available from: https://www.2bprecise.com/about2bprecise/
  8. 8.     Mount Sinai Health System Launches Collaboration with the Regeneron Genetics Center [press release]. 2016.
  9. 9.     Michigan Uo. Epic Genomic Indicators Module makes genetic data more integrated 2022 [Available from: https://precisionhealth.umich.edu/news-events/features/epic-genomic-indicators-module-makes-genetic-data-more-integrated-accessible/
  10. 10.   MedPlus. ChartMaxx(R) Chosen as Electronic Patient Record Solution by Children’s Healthcare of Atlanta.  HIMSS; February 262004.
  11. 11.   Abul-Husn NS, Kenny EE. Personalized Medicine and the Power of Electronic Health Records. Cell. 2019;177(1):58-69.
  12. 12.   Sperber NR, Carpenter JS, Cavallari LH, J. et al. Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network. BMC Medical Genomics. 2017;10(1).