HJAR Jul/Aug 2021

HEALTHCARE JOURNAL OF ARKANSAS  I  JUL / AUG 2021 33 major component of precision medicine, the patient’s genomic data is an important aspect of clinical decision making. Arkansas Children’s has configured its EHR and HIT systems to capture, store and transmit genomic data and developed clinical decision support systems (CDSS) at the point of care in support of healthcare delivery. Precision medicine offers a great opportunitytonotonlyincludethepatient’s genome and phenome information, but also to consider the patient’s social and environmental factors. The biomedical informatics workforce is key to realizing the promise of precision health, as they work with clinicians, EHR and HIT staff and other healthcare decision makers to ensure actionable information is made available in a timely manner, and that information leads to better quality and safer care delivery. Conclusion Some of the most valuable aspects of incorporating PGx testing into a hospital’s clinical care decision support are prevention of adverse drug events (ADR), optimization of drug dosage and safe prescription of medications based on the patient’s genetic makeup. The PGx test can be successfully implemented and integrated within the electronic health records. Clinicians are very interested in learning more about how pharmacogenomic-informed care can be utilized to further improve the way care is delivered to the patients in Arkansas. n The completed test consists of two components: genotyping and copy number variation (CNV) quantification. All genotyping and CNV assays can identify alleles in human DNA samples obtained from either a blood or buccal specimen. Each of these genotyping and CNV assays are used to predict drug metabolism and specific disease condition risk. All raw genotyping and CNV data are sent to Translational Software Inc. via secure file transfer protocols for pediatric PGx interpretation. The PGx results are sent back following standard healthcare interoperability messaging systems, and the genomic results are incorporated into the electronic health record so it can be used for timely clinical decision support. Biomedical Informatics Biomedical Informatics is the application of computer science, information technology and data science in biology and healthcare, and is a key component to the success of PM. With the rapid adoption of electronic health records (EHR) among healthcare institutions, massive amounts of digitized data are now being generated and stored by healthcare information technology (HIT) systems. Clinical, administrative and financial data are among the commonly available sources of computable data that can be accessed and utilized using EHRs and other HIT systems. One of the biggest hurdles for PGx implementation are the “genomics- enabled” electronic health records. 1 As a Patricia A. Porter-Gill Precision Medicine Project Manager Arkansas Children’s Research Institute Feliciano B. Yu, Jr., MD, MSHI, MSPH Medical Director Pediatrics and Biomedical Informatics University of Arkansas for Medical Sciences (UAMS) REFERENCES 1 Denny JC and Collins FS Precision medicine in 2030— seven ways to transform healthcare. Cell, 2021, 184 (6): 1415-1419. 2 Ligenza D. Sir William Osler, the “Father of Modern Medicine.” https://www.bartonassociates.com/blog/ sir-william-osler-the-father-of-modern-medicine#:~: text=%E2%80%9CIt%20is%20much%20more%20 important,landmark%20text%20of%20internal%20 medicine.%E2%80%9D.July 30, 2015. 3 Flores M, Glusman G, Brogaard K, Price N, Hood L. P4 medicine: how systems medicine will transform the health- care sector and society. Future Med. 2014 Oct 21. 4 Collins FS, Varmus H. A new initiative on precision medi- cine. N Engl J Med. 2015;372:793-795. 5 Nebert DW Pharmacogenetics and pharmacogenomics: why is this relevant to the clinical geneticist? Clin Genet. 1999 Oct;56(4):247-58. PMID: 10636440 6 Pirmohamed M. Pharmacogenetics and pharmacog- enomics. Br J Clin Pharmacol. 2001;52(4):345-347. doi:10. 1046/j.0306-5251.2001.01498. PMID: 11678777. 7 Wang L andWeinshilboum R Pharmacogenomics in Prac- tice. Clin. Pharmacol.Ther., 2019, 106 (5): 936-938. 8 U.S. FDA: https://www.fda.gov/medical-devices/ precision-medicine/table-pharmacogenetic-associations 9 CPIC: https://cpicpgx.org/guidelines/ 10 DPWG: https://upgx.eu/guidelines/ 11 PharmGKB; http://www.pharmgkb.org 12 Porter-Gill PA, Gill PS, Schaefer GB, Allen J, Boyanton BL, Yu, F., Arkansas Physicians’ Interests and Learning Oppor- tunities with Pharmacogenomics. Arkansas Medical Jour- nal, 2021, September. In press. 13 Thermofisher: https://www.thermofisher.com/us/ en/home/life-science/pcr/real-time-pcr/real-time-pcr- instruments/quantstudio-systems/models/quantstudio- 12-flex.html G. Bradley Schaefer, MD , director of the program in preci- sion medicine is a professor of genetics and pediatrics at the University of Arkansas for Medical Sciences. He was the founding director of the Division of Medical Genetics and was the chief of the Section of Genetics and Metab- olism in the Department of Pediatrics at UAMS from 2008 to 2017. Patricia Porter-Gill joined the Arkansas Children’s Re- search Institute in 2018 as a research laboratory man- ager and precision medicine project manager. She has a Bachelor of Science degree from the University of Kansas in Microbiology. She previously worked for the National In- stitutes of Health and the National Center for Toxicological Research at the Food and DrugAdministration atJefferson, Arkansas. Pritmohinder Gill, PhD , is an associate professor in the De- partment of Pediatrics, Division of Clinical Pharmacology and Toxicology at the University of Arkansas for Medical Sciences (UAMS) and at Arkansas Children’s Research Institute (ACRI). Feliciano “Pele”Yu, Jr., MD , is a pediatrician with expertise in clinical informatics and health services research. He is the chief medical information officer at Arkansas Chil- dren’s Hospital and professor of pediatrics, biomedical informatics and public health at the University of Arkansas for Medical Sciences College of Medicine. Pritmohinder S. Gill, PhD Arkansas Children’s Research Institute Department of Pediatrics University of Arkansas for Medical Sciences