The Business Value and Cost–effectiveness of Genomic Medicine

James M Crawford; Mara G Aspinall


Personalized Medicine. 2012;9(3):265-286. 

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Healthcare Reform

Comment must now be made about the vast changes that will occur this decade in delivery of healthcare to individuals and to populations. The valuation principle that healthcare must be delivered at equal or lower cost, with better patient and population outcomes, is firmly in play in the public and private marketplace. It is reasonable to expect that health systems and healthcare providers will be selected by payers and patients alike on the basis of their value, not their prior reputations. The value proposition will be data driven, and will include economic information. The costs of delivering healthcare may be measured on the basis of episodes-of-care, cost accrual for individual patients, and costs for caring for populations of beneficiaries. Regardless of how the economic costs are segmented, the question will remain: will the practice of genomic medicine improve the value of healthcare delivery? A central element of answering this question is the valuation of diagnostic testing, as opposed to the valuation of therapeutic intervention.

A key consideration is that addition of genomic testing to healthcare delivery appears to conflict with the extensive effort currently being given to reducing overutilization of ancillary testing such as laboratory tests and imaging.[54,55] However, the introduction of 'disruptive technologies' provides the basis for quantum jumps in the efficacy and value of healthcare. Therefore, this conflict may be more superficial than real. Leaving laboratory testing aside for a moment, demonstrated improvement in economic value has been achieved in the realm of noninvasive imaging.[56,57] One of the best recent examples of a revolutionary change in imaging technology is optical coherence tomography in the practice of ophthalmology. From its initial development in the early 1990s and application to screening for glaucoma,[58] this technology is now standard in the field of ophthalmology and has extensive other applications. As of February 2012, there are over 11,500 published articles on this technology. By contrast, despite 25 years of research and over 18,600 published articles on the alternative technology of optical imaging, which generally involves using light of a visible spectrum to obtain enhanced medical images of interior organs,[59] this technology has not achieved consistent use, or even a clearly identifiable billable CPT code.

To the best of our knowledge, the anecdotal reports of the value of genomic medicine presented earlier only serve as examples of the expressed hopes for this technology. However, the disruptive value of genomic medicine has not yet been established, nor its definitive economic value, but both must be done if genomic medicine is to take its place in supporting physicians' management of patients' disease burdens.


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