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    Where is precision medicine headed?


    The direct-to-consumer (DTC) market, with providers like 23andMe and 200+ other DTC genomic companies, enables consumers to learn more about their genealogy, microbiomes and likelihood of inheriting specific diseases, allowing them to take a more proactive, targeted approach to their healthcare. As these tests become even easier to use and costs continue to decrease, more consumers are considering them.


    Blog: Wealth should not make health. Period.


    But what then does a patient do with the information gleaned? While certain markers can appear in genetic tests, including variants that increase the likelihood to develop a certain condition over time, they only reveal what the patient may be at risk for and don’t guarantee he/she will get the disease. With the potential for a poorly informed consumer to unnecessarily pursue risky procedures or discontinue a critical medication as a result, the medical community should be aware of the tests, risks associated with consumer interpretation of them and how to best address patient needs to understand the information.

    Some EHR systems are starting to incorporate genomic data, as well as insurance claims and other data that goes mostly untapped, with clinical practice guidelines to enable the translation of PGx test results into actionable prescribing decisions, and even more needs to be done in this space. This can help to better inform physicians on how to best educate patients on genetic testing results at the point of care. Additionally, genomic data could be used to facilitate a clinician’s workflow and improve patient care to predict when a given patient is due for a preventative service (e.g., colonoscopy) or a monitoring intervention (e.g., HgBA1c) in an automated fashion. This prospective analysis can optimize patients’ health and streamline the provider workflow while improving quality measures like HEDIS and refining risk adjustment models. This knowledge can become even more impactful when integrated with a care manager platform or an EHR to become part of routine care using clinical decision-support applications.

    Next: What happens when genetic testing becomes more readily available? 

    Jaime Barea, MD
    Jaime Barea, MD, is Director of Medical Genetics with Interpreta, a provider of a real-time analytics engine that continuously updates, ...


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