In 2009, Partners HealthCare Center forPersonalized Genetic Medicine (PCPGM), inBoston, tested a man from Utah for geneticmarkers of an inheritable heart condition –hypertrophic cardiomyopathy. Partners thenused a new clinical genomics networking systemit developed, based on the advanced integrationtechnology of InterSystems Ensemble, to transferthe test results to the man’s electronic medicalrecord at Intermountain Healthcare in Salt LakeCity, Utah. This first-ever successful electronictransfer of genetic test results marked the open-ing of a new era in personalized medicine. Hadthey been printed, the 13 pages of results wouldhave been difficult to access, share, and interpretfor most physicians.Digging into the DNAPersonalized medicine is based on the con-cept that genomic testing can provide informa-tion about a person for tailoring medical care toindividual needs. The identification of an individ-ual’s DNA base pairs that vary from normal –variants – is the first step in personalized medi-

cine. Variants then need to be correlated withknown effects before being communicated to thephysician. Adding this information to a patient’selectronic medical record (EMR) can, for exam-ple, help guide selection of drugs to minimizeside effects, or help build a strategy for a moresuccessful treatment outcome.Putting DNA into the EMRThe trick is getting complex genetics datainto the EMR, and putting meaningful informa-tion in front of the physician. The lack of systemsfor processing and communicating this data,and software to help physicians make effectiveuse of it, has hindered progress. The break-through of the PCPGM/Intermountain transferwas made possible by PCPGM’s development ofVariantWire, the clinical genomics networkingsystem based on InterSystems Ensemble. Theproject also included close work with the HL7Clinical Genomics Workgroup on genetic varia-tion messaging standards, and development ofsoftware for identification of variants and theirrole in health and disease.

Partners HealthCare uses InterSystems Ensemble®to create a breakthrough in personalized medicineAdvanced integration and development �

Flexible business process management �

More than just HL7 interfacing �

Partners HealthCare Center for Personalized Genetic Medicine

INTERSYSTEMS ENSEMBLE CASE STUDY

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A powerful development environmentfor connected applications“What I really like about Ensemble is its easeof use and reusability,” says Steve Woodworth,team leader at Partners Healthcare and a leaddeveloper on the Ensemble-based framework forVariantWire. “From a Partners perspective,reusability of our previous work is the keything.” For example, as part of a previous project,Partners created a framework composed ofEnsemble business processes and data transfor-mations for connecting external physician EMRswith Partners’ internal systems, and bi-directionaldata sharing. Using this framework it now takesPartners HealthCare only a half hour to connect anew physician practiceEMR into its system. Thissame framework conceptand some of the samecode were used for devel-oping VariantWire.

Ensemble integratesthe development teamThe VariantWire architecture enables differ-ent components to “plug and play” into theframework. “We created the framework usingEnsemble business processes to handle the over-all processing and flow of information,” saysWoodworth. “We built it in a very generic wayand it’s class driven. So we can just go in andchange parameters in a table to determine whichcomponents are called and adapt VariantWireeasily for input from a new lab or output to anew EMR. It didn’t take a lot of code in Ensembleto get a really powerful solution.”VariantWire makes heavy use of Ensemble’sXML tools and Java gateway to incorporate solu-tion components, such as results validators andgene variation interpretation systems, written bythe genetics developers. “The great thing aboutEnsemble is that it has enabled Partners to lever-age everyone’s expertise in this project, withouteveryone having to learn a new technology,”

explains Woodworth. “The genetics developersare Java and XML people. That’s what they want-ed to use. Once they saw how Ensemble couldincorporate their work in Java, and how well ituses XML and XSLT, they really wanted to usethose capabilities.”Making it easier to makebreakthrough applicationsGenetic testing involves many different labsand tests, but it is “infeasible to think that everylab is going to be connected to every provider,so it's kind of a scenario that calls out for a hubarchitecture like VariantWire,” notes SandyAronson, Executive Director of InformationTechnology at PCPGM. Over time, PCPGM hopesto connect a number of labs to VariantWire toexpand the infrastructure base needed to sup-port broader use of genetics in preventive careand patient treatment decisions. The goal is toenable any lab that connects to VariantWire toconnect to all other institutions in the networkthrough just this single, secure interface.Partners HealthCare has been a longtime userof Ensemble, initially for HL7 messaging. Now,notes Woodworth, “I tell people it’s HL7 right outof the box, but we’re using it more and more fornon-HL7 tasks. It’s fast. It’s powerful. You can doa lot with a minimal amount of effort. We canhandle a lot of requests for projects, and use ofEnsemble at Partners keeps on growing. Peoplesay ‘Wow, you’re doing all of that?’ And I can behumble and say it’s really not a lot of work.”

“I tell people [Ensemble is] HL7right out of the box, but we’re

using it more and more fornon-HL7 tasks. It’s fast.

It’s powerful. You can do a lotwith a minimal amount of effort.”

Steve Woodworth,team leader at Partners Healthcare.