Where Clinical, Genomic, and Big Data Collide

One of the early proving grounds of big data is healthcare, and the constant cycle of insights catching up to volume hasn’t changed since the early days of the electronic patient record. Early healthcare data typically involved structured metrics such as ICD9 codes and other billing data, which yielded very little clinical detail. The introduction of new data points, both structured and unstructured, has opened the door to many new analytics possibilities. While the possibilities are there, “few viable automated processes” exist that can “extract meaning from data that is diverse, complex, and often unstructured” (Barlow, 2014, p. 18). Indeed, the gap continues to widen between the “rapid technological process in data acquisition and the comparatively slow functional characterization of biomedical information (Cirillo & Valencia, 2019, p. 161).

With so much available, a hospital or healthcare provider may find it difficult to determine a place to start, and either ignore the possibilities altogether or engage in initiatives that are not impactful to clinical quality or costs. There are five broad areas in which value can be delivered: clinical operations, payment & pricing, R&D, new business models, and public health; data are gathered from four broad sources including clinical, pharmaceutical, administrative, and consumer (Barlow, 2014, p. 21).

As of late, genomics have entered the conversation as both a consumer product (e.g., 23AndMe or Ancestry, known as personal genomic testing) and clinical practice. It is one thing to prescribe a medication based on a patient’s chart history, but an entirely different patient experience when a prescription is tailored to a patient’s particular metabolism, genetic predispositions, and risks (Barlow, 2014, p. 19). The wealth of patient-generated health data from a growing number of consumer devices has already contributed to the rise of “Personalized Medicine” (Cirillo & Valencia, 2019, p. 162) and the introduction of genomic data will move the needle even further. One can’t get much more personalized than a genetic footprint.

One debate around personal genomic testing is the value it provides when given directly to consumers without the benefit of clinician involvement. While the benefits of such testing include lifestyle changes that mitigate future disease risk, consumers are also prone to misinterpretation that may lead to unnecessary medical treatment (Meisel et al., 2015, p. 1). Beyond future risk, a recent study found the interest around personal genomic testing had a great deal to do with family or individual history of a particular affliction (Meisel et al., 2015). Consumers are mindful of explaining current risks and phenomena, not just predicting them.


Barlow, R. D. (2014). Great expectations for big data. Health Management Technology, 35(3), 18-21.

Cirillo, D., & Valencia, A. (2019). Big data analytics for personalized medicine. Current Opinion in Biotechnology, 58, 161-167.

Meisel, S. F., Carere, D. A., Wardle, J., Kalia, S. S., Moreno, T. A., Mountain, J. L., . . . Green, R. C. (2015). Explaining, not just predicting, drives interest in personal genomics. Genome Medicine, 7(1), 74.

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