Healthcare technology is advancing at a rapid pace. Many new advances in the research and knowledge of genomic data are are helping individuals have access to better care. Understanding genomic information can help to ensure that the proper medications are given to each patient. The article Development of a Scalable Pharmacogenomic Clinical Decision Support Service describes the implementation of decision making support system in order to improve healthcare to pediatric patients at Boston Children’s Hospital.
Genomic data is becoming more readily accessible to healthcare providers due to better sequencing technology. By using each patient’s unique genetic code, there is less chance of adverse reactions of medications and treatments. This information is especially important when patients have genetic variants which may make them susceptible to life-threatening consequences. The healthcare providers and staff at Boston Children’s Hospital recognized the need to develop a “scalable pharmacogenomic clinical decision support service” that analyzed genonmic variant data, incorporated Clinical Pharmacogenomics Implementation Consortium (CPIC) guidelines, produced customized clinical reports, and integrated these reports with electronic medical records systems (Fusaro, Brownstein, Wolf, Clinton, Savage, Mandl, Marulies & Manzi, 2013). The CPIC was the chief advocate in creating the Clinical Pharmacogenomics Service (CPS) oversee the use of genomic information to make the distribution of pediactric medication safer for the healthcare providers and staff at the Boston Children’s Hospital.
The main goal was to implement a standardized test for thiopurine S-methyltransferase (TPMT) throughout the hospital. It is necessary to test TPMT because it is an important enzyme which metabolizes thiopurine drugs such as azathiopurine, mercaptopurine, and thiogaunine. These drugs are often used as immunosuppressants and may be prescribed for conditions such as leukemia, autoimmune disorders, and organ transplant recipients. If there are mutations in TPMT, individuals experience decreased bone marrow activity, resulting in fewer red and white blood cells, and platelets.
The necessity of saving the lives of pediatric patients created the need to develop the TPMT test as soon as possible. In a short period of six months, the test for TPMT progressed from the planning to the production stage. Boston Children’s Hospital began the TPMT testing on August 1, 2012.
Two major challenges were present to the implemenation of the TPMT test. The first was that the current electronic record system needed to be modified to display the pharmacogenetic information in actual time. The second obstacle to overcome was the mapping the genetic variant information, specifically base pairs, into a clinical report. To effectivley implement the TPMT test, the medical record system was designed with text-based alerts for physicians and pharmacists based on a problem list correlated with specific drugs. These alerts were incorporated with an internpretation report which displayed both the diplotype and pharmactogenomic results. These automated reports were run daily for pharmacogenetic tests in progress and test results available within 24 hours. In addition, an online clinical reporting system took the genetic data of single-nucleotide polymorphisms (SNP) and generated a clinical report to be integrated into the medical records.
The reporting system automatically determines the appropriate nomenclature based on sequenced variants and a haplotype table. The decision support system formats the correct clinical report in for the lab directors to edit and review. After the form is approved, the results are saved to a database and in the format of both HTML and PDF files. By constructing the informatics to process genetic data at the level of the base pairs, there was alloted flexibility to transition other genomic inputs such as exomes, entire genomes, or chip-based assays without modifying the reporting structure (Fusaro et al, 2013).
There main factor which made the TPMT test system so successful was that it was designed to be scalable and allow room for the incorporation of additional pharmacogenetic varients. The flexibility of the TPMT decision support system allowed for modifications and improvements to be made. Because the results were favorable, there are plans to use this decision making system with other pharmacogenetic services for the patients at Boston Children’s Hospital.
- Fusaro, V., Brownstein, C., Wolf, W., Clinton, C., Savage, S., Mandl, K., Marulies, D., & Manzi, S. (2013). Development of a scalable pharmacogenomic clinical decision support service. AMIA Summits on Translational Science Proceedings, 60, Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3814487/