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    Lessons from the field: How to maximize the potential of genomic information

    October 4th, 2016

    As the industry recognizes the potential of genomic information to revolutionize healthcare delivery, experts describe the many challenges and opportunities related to precision medicine. A recent Health Data Management article, WEDI: EHR support for genomic medicine lacking, reviews highlights of a white paper from the Workgroup for Electronic Data Interchange (WEDI) Genomics Workgroup.

    Because our team has years of experience in embedding clinical knowledge in the clinical workflow, and since we are working toward making precision medicine possible at the point of care through our genomic platform 2bPrecise, I wanted to share a few thoughts and reactions here:

    1) EHRs don’t lend enough support to genomic medicine

    Authors of the white paper contend, Although improvements to electronic health records (EHRs) have been made, much work remains to optimize their ability to support genomically informed care, and in turn, for genomic information to contribute to improvements in care coordination.”

    I agree; we’ve made progress, but we have not achieved the full promise of precision medicine.

    A section of the white paper addresses building the technical infrastructure, listing out specific challenges related to data storage, integration and analytics, which are all critical to success. However I’d emphasize the greater challenge lies – not just in the technical aspects – but rather, How will clinicians make sense of this data?

    We cannot just solve for the technical and introduce an ocean of data. Our concurrent effort should be to synthesize all of this data into actual relevant knowledge – enabling clinicians to make sense of it at the point of care and deliver only what is important for this clinical context. We must avoid overwhelming the clinicians.

    2) Actionable clinical decision support around genomics will have significant clinical benefits

    As stated in the WEDI white paper, “An actionable, systematic CDS process around genetic data has the potential to hasten the diagnostic process, accelerate therapeutic and non-therapeutic care planning, and better inform and engage all members responsible/accountable for adherence to such a care plan.”

    Our partnership with the National Institutes of Health (NIH) is focused on combining clinical and genomic data to deliver actionable information at the point of care and integrated in the EHR. We are still in the early adoption phase of this relationship, but we anticipate many potential benefits in terms of care optimization and research.

    3) The industry should “move aggressively” toward a common standard for genetic information exchange

    Here, too, I agree with the white paper authors; standards can help foster data exchange. Coming from my background with the Allscripts dbMotion™ Solution, an interoperability platform deployed in nearly one hundred IDNs, we know that a common language is critical.

    But practically speaking, the real clinical world has mixed levels of maturity when it comes to data exchange. In some cases, there are too many standards. In other areas, there are proprietary, non-standard or non-structured types of information. The healthcare industry has invested more than two decades in defining developing and adhering to standards.

    So, industry standards are an important step, but it is not realistic to expect that standards alone will ensure compliance or progress.

    4) Protect genomic information’s use

    There are many aspects of using genomic information that go far beyond the clinical. The white paper explores some moral considerations around data privacy and security. For example, protecting individuals from improper use of genetic information by health insurers and employers.

    We must also consider ethical dilemmas as clinicians consider using this information with patients. For example, if genomic data is 90% certain an individual will develop Dementia or Alzheimer’s Disease, at what point should the physician share this information with the patient? Is there a threshold for certainty that we must reach before exposing patients to a diagnosis? Is there a minimal requirement to even be able to act upon such finding? It is a subject worthy of further exploration as precision medicine becomes more mainstream.

    The benefits are worth the effort

    Integrating genomic information into medicine is a monumental task. But the potential to improve care coordination and healthcare delivery are too great to ignore. Our early work with NIH experts is just the beginning of a journey that will bring us closer to our ultimate goal: improving outcomes for patients, while optimizing payer and provider spending.



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