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    Joel Diamond
    Joel Diamond, MD, FAAFP
    Phillip LaJoie
    Phillip LaJoie, PMP, CGB, CISSP
    The onslaught of ever-changing information in science and healthcare delivery has become quite important for practicing physicians. From the growing specificity of lab tests, to evolving clinical care guidelines, to new drugs being approved by the FDA on a regular basis, the information through which physicians must filter before making a diagnostic decision has reached almost untenable levels.

    But it does not end there. In addition to peer-reviewed clinical guidelines and shifting organizational policies, physicians are bombarded with questions from their patients, particularly those individuals whose anxiety levels have reached a high level after they self-diagnosed a mole they’ve had since birth.

    Today, healthcare consumers are attempting to interpret information they find on websites such as WebMD, Healthline or What’s My Diagnosis without having the medical knowledge they need to understand the implications or possible secondary contributors to their hypochondria-driven disease. As a result, they often come to an incorrect conclusion that they are the victim of a melanoma so rare it’s only been seen once before on the inner thigh of an iceman mummy who lived 5,300 years ago. Their fear is palpable, believing that this iceman died as a direct result of his mole.

    Healthcare consumers are now able to reach beyond the obvious physiologic expressions they can see about themselves. On April 6, 2017, the FDA cleared direct-to-consumer genetic testing (DTC-GT) companies such as 23andMe to provide health risk reports as part of their consumer offering. This increases patient anxiety beyond their physical symptoms, and they bring these anxieties to their doctors, looking for a cure.

    Are physicians prepared to answer questions regarding genetic data?

    With their self-diagnosis, patients turn to physicians for answers, with the expectation that they have more insight and can reason away patient anxiety. This “information without knowledge” has added significantly to appointment times as physicians try to make sense of the information to calm their patients’ fears. Unfortunately, physicians are not typically trained in the complex language of the genome, so they are not prepared to help their patients.

    Despite maintaining their continuing medical education requirements, many highly competent physicians have knowledge gaps in the expanding field of genomics. Interpretation of complicated and often ambiguous genomic reports will require new ways of presenting and visualizing data, and the DTC-GT health risk reports are adding a sense of urgency to this need. With the sheer size and complexity of the genome, 3 billion base pairs long, it is unrealistic to expect physicians to understand, let alone react to, this new and seemingly endlessly changing landscape. What is needed is technology through which physicians can receive and ingest this new information, whether in the form of genomic tests they have ordered themselves or from DTC-GT results brought to them by their patients, while simultaneously translating the scientific language of the genome into meaningful and actionable clinical terms.

    EHRs have been around since 2004, thanks to a presidential order signed by then-President George W. Bush; however, they were not created to ingest or translate genomic information, so other solutions must be considered. The market is beginning to see technologies emerge around precision medicine whose purpose is to not only ingest and translate genomic information, but also provide more specific actionable intelligence to physicians when cross-referenced to the clinical history of their patients. Of course, physicians only consider these solutions usable when they enhance rather than interfere with their long-standing clinical workflows, which further shortens the list of potential solutions.

    How does genetic testing position a practice to market itself differently?

    It bears repeating that healthcare consumers look to their physicians with the expectation that they should have the experience and insight to understand and alleviate maladies, real or perceived. If their physicians don’t meet this expectation, consumers will look for physicians who can. When physicians can interpret genomic data and provide relevant insight to their patients, it signals that they are using advanced medical technology, which reflects a strong commitment to their patients. Given the direct-to-consumer offerings that continue to be part of the market, this advanced medical technology will be expected to ensure patients’ loyalty.

    There is increasing frustration with the current state of medical practice, forcing leaders to strike a balance between patient and consumer demand with evidence- and science-based policy. This is exacerbated by the growing consumer appetite for genetic testing, either called for by physicians through a clinically certified lab or DTC-GT.

    As the science of genomics continues to uncover and publish new correlations between genomic variances and clinical conditions, it becomes increasingly important for physicians to understand those correlations and how to identify and react to them in clinically meaningful ways. For physicians to maintain patient loyalty, they must look to technology that can be incorporated into their workflow, translates complex genomic language into clinical terms, provides actionable intelligence and future-proofs their investment by continuously vetting this information to ensure new genomic discoveries are available as soon as possible.


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