Direct-to-Consumer Genetic Testing: A Temporal Analysis of Business Models

  • Background:

    Beginning in the mid-2000s the Direct-to-Consumer (DTC) genetic testing market started expanding rapidly, due to plummeting costs in human genome sequencing. Rising interest of the public and a do-it-yourself mentality in American culture have led to a plethora of global players adapting diverse business models.

    DTC genetic testing service providers have faced many challenges and changes during their relatively short period of existence. While DTC genetic testing was unregulated in the early 2000s the Food and Drug Administration (FDA) investigated the market starting in 2010 and largely forbid genetic health testing by 2013. Over the following years many service providers cooperated with the FDA, offering approved DTC genetic health solutions and changing their business models once again starting in 2017.

    However, many medical professionals still argue, that DTC genetic health tests are performed with insufficient accuracy and information provided may be misleading. While the risk of misinterpretation may not be as critical for nonmedical genetic testing, such as ancestry and lifestyle tests, some experts and consumers further criticize DTC genetic testing service providers’ transparency on genome privacy and ethicality. Additionally, the DTC genetic testing market is still largely unregulated, allowing service providers the arbitrary use of disputed business models and genetic information therein.

    An analysis of the temporal development of DTC genetic testing business models could thus shed light onto already implemented improvements of DTC genetic testing and could help service provides identify current short comings. Moreover, it can help politicians and regulatory institutions (e.g. FDA) monitor changes and support future market regulations.



    The aim of this thesis is the temporal analysis of selected DTC genetic testing business models. For this the business models of service providers are coded according to the taxonomy by Thiebes et al. 2020 at important historic points for DTC genetic testing. Data for this is extracted from the historic websites of the service provides (e.g., Subsequently, the changes for the business models need to be analyzed.



    -Taxonomy development/coding after Nickerson et al. 2013

    -Statistical comparison analysis with existing taxonomies (Thiebes et al. 2020)


    Introductory Literature:

    Allyse MA, Robinson DH, Ferber MJ, Sharp RR. Direct-to-consumer testing 2.0: emerging models of direct-to-consumer genetic testing. Mayo Clin Proc 2018 Jan;93(1):113-120.


    Nickerson, Robert C., Varshney, Upkar, Muntermann, Jan. A method for taxonomy development and its application in information systems. European Journal of Information Systems 2013;22(3):336–359.


    Thiebes S, Toussaint PA, Ju J, Ahn J-H, Lyytinen K, Sunyaev A. Valuable Genomes: Taxonomy and Archetypes of Business Models in Direct-to-Consumer Genetic Testing. Journal of Medical Internet Research. 2020;22(1):e14890.