JMIR Publications

ABSTRACT

Background:

Recent progress in genome data collection and analysis technologies has led to a surge of direct-to-consumer genetic testing services. Due to the clinical value and sensitivity of genomic data, as well as uncertainty and hearsay surrounding business practices of direct-to-consumer genetic testing service providers, direct-to-consumer genetic testing has faced significant criticism by researchers and practitioners. Research in this area has centered on ethical and legal implications of providing genetic tests directly to consumers, but we still lack a more profound understanding of how business in the direct-to-consumer genetic testing markets will work and provide value to different stakeholders.

Objective:

We address the lack of knowledge concerning business models of direct-to-consumer genetic testing services by systematically identifying salient properties of various direct-to-consumer genetic testing service business models as well as discerning dominant business models in the market.

Methods:

We employ a three-phased research approach. In phase one, we set up a database of 277 direct-to-consumer genetic testing services. In phase two, we draw on this data as well as conceptual models of direct-to-consumer genetic testing services and iteratively develop a taxonomy of direct-to-consumer genetic testing service business models., In phase three, we use a two-stage clustering method in order to cluster the 277 services that we identified during phase one and derive six dominant archetypes of direct-to-consumer genetic testing service business models.

Results:

The contributions of this research are twofold. First, we provide a first of its kind, systematically developed taxonomy of direct-to-consumer genetic testing service business models consisting of 15 dimensions in four categories. Each dimension comprises two to five characteristics and captures relevant aspects of direct-to-consumer genetic testing service business models. Second, we derive six archetypes of direct-to-consumer genetic testing service business models called: (1) Low Cost DTC Genomics for Enthusiasts; (2) High Privacy DTC Genomics for Enthusiasts; (3) Specific Information Tests; (4) Simple Health Tests; (5) Basic Low Value DTC Genomics; (6) Comprehensive Test, Low Data Processing.

Conclusions:

Our analysis paints a much more complex business landscape in the direct-to-consumer genetic testing markets than previously anticipated. This calls for further research on business models and their effects that underlie direct-to-consumer genetic testing services and invites specific regulatory interventions to protect consumers and level the playing field.