The use of genetic data is at the forefront of many innovators' approaches for increasing personalized medicine, and making healthcare treatements more targeted and effective.

But getting from genetic data to clinical action will require some significant support from information technology. Personalized medicine will pose major challenges to electronic health records systems, analytics approaches and systems that provide clinical decision support.

Partners HealthCare in Boston is examining the issues through its personalized medicine initiative, in which it is accelerating the use of genetic and genomic information in the clinical setting to improve patient care. Doing that requires a significant transition for information systems that manage data and enable intelligent reporting combined with expert analyses.

Partners has developed GeneInsight Suite, an IT platform to help address challenges of clinical adoption of personalized medicine – aiming to streamline clinical testing, better manage the vast amounts of data generated in genetic testing, support the clinical interpretation process and more easily channel information to clinicians providing care.

Leading the initiative for Partners is Samuel "Sandy" Aronson, executive director of IT at Partners Personalized Medicine. Aronson recently discussed Partners ’ personalized medicine work.

Partners Healthcare has a long, rich history of using electronic health records. Could you catch us up with its current EHR environment?

Partners HealthCare is currently rolling out Epic across its hospitals. Epic is live in some locations already. All of our institutions will be live by 2017, providing us with an integrated electronic health record across our network.

What kind of work is Partners doing with personalized medicine? Are there specific areas in which the organization is focusing?

Partners and its hospitals are very active across the entire personalized medicine space. Our pathology departments genetically assess tumors to determine which drugs are most likely to be effective for specific patients. Our Laboratory for Molecular Medicine sequences patient DNA to determine the causes of patient disease and help guide treatment, not only for the patients themselves but also for their families. Our BioBanking efforts engage the community to accelerate research. From an information technology perspective, we seek to proactively provide support that our clinicians need to take advantage of genetics and other personalized medicine-based techniques.

How does Sunquest/GeneInsight support your personalized medicine initiatives?

Partners has a long relationship with laboratory vendor Sunquest. These kinds of relationships are always important in establishing extensive partnerships of this type. But there are two other driving factors in addition to the relationship. The first is instances in which GeneInsight can serve different institutions that can be federated with one another to form knowledge-sharing networks. The power of these networks is proportional to the number of nodes sharing data. Because Sunquest has such a large customer base, they have the potential to expand the network far quicker than we could hope to do alone.

The second is that we see GeneInsight as a continuous learning platform focused in the genetics space. For personalized medicine to reach its potential, it must extend continuous learning processes to include clinical data from other areas. The integration of GeneInsight with Sunquest’s pathology products could accelerate this process in exciting ways.

How would you describe the use of genetic information at this point – early proof of concept, beta testing or the early stages of being used in care delivery?

Many people think that genetics will improve our kids’ and grandkids’ care, but not our own, and certainly not that of our parents. However, the reality is that genetics for years has guided the care of patients and family suffering from or at risk for incredibly life-threatening and debilitating diseases. There are certain drugs that you cannot prescribe without first testing the patient for genetic variants associated with serious adverse events. In my personal life, I know many people who have learned that their non-small cell lung cancer tumors have EGFR mutations, which are associated with dramatic responses to a specific class of drugs. When incidents of sudden cardiac death run in families, genetics can be used to determine who is and is not at risk. Genetics can be used to determine which hearing loss treatments are likely to be most effective. The list goes on and on.

At the same time, the genetics field is constantly advancing, so new techniques, instruments and tests constantly emerge and mature at different rates. So while genetics is still in its infancy, we will be able to do much more in the future than we can today. However, not everyone who could benefit from genetic testing receives it. This is part of the reason we established our partnership with Sunquest, so GeneInsight can be distributed to more places, where it can be part of helping genetics make an impact.

What challenges do the use of genetic data pose for integration into EHRs and laboratory information systems?

There are many challenges, but perhaps the most important surround the nature of genetic testing and its rapid evolution. When a variant is found in a patient’s inherited DNA, that variant will stay with that patient throughout their lifetime. There is no reason to retest the patient for that variant ever again, unless a reason arises to question the physical accuracy of the original test. However, we could learn more about clinical implications of that variant throughout the patient’s lifetime. Clinicians must rely on the systems in their EHR ecosystem to alert them if something important is learned about a variant previously identified in one of their patients. As genetics advances, and more patient whole exome and whole genome analyses are done, the scale of this challenge will become monumental. At the same time, the potential for a new, more proactive, form of medicine also exists. Bringing all of this about requires deep integration between laboratory and clinician-facing infrastructure, which is why we found it important to extend the GeneInsight suite across both domains.

Genetic information tends to require large amounts of storage. Has this affected Partners’ data storage strategies? How will Partners approach storage requirements as its needs grow?

There is no question that data storage is a problem and an expense that grows over time. But it is nowhere near as large a challenge as establishing the application infrastructure required to support all of the new clinical processes we would like to enable. That said, internally we have focused on optimizing data retention policies, ensuring data is stored in the right class of storage throughout its lifecycle and acquiring new storage capabilities in a rational way. We have investigated cloud-based approaches, but have not pulled the trigger on those.

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