Analysis of the Next Generational Genome Therapy Life Cycle

Nishit Agrawal & Krisztián Bosnyák

Student thesis: Master thesis


The contemporary healthcare sector is at the shrink of a remarkable transformation, where personalized and proactive treatments are steadily substituting the general and reactive ones. However, this transition is still in its infant phase that encompasses severe issues such as the limited affordability of treating rare genetic disorders. Reflecting this, the paper at hand critically reviews the opportunities of the latest genome sequencer, analyzer, and engineering technologies through a Design Science research methodology. The first outcome of the research is a developed software library built on the eye-color and lactose-tolerance datasets, which can predict the incumbent genotype to phenotype associations with 98% and 79% accuracies respectively as well as to reveal validated single-nucleotide polymorphisms (SNPs). The second is a conceptualized value-chain integrating the most optimal technologies regarding mitigating the identified problems of the industry. For the upstream processes the PromethION nanopore sequencer, while for the downstream the CRISPR-Cas9 system found to be the most advantageous. Furthermore, Hall & Martin’s radical technology development framework is incorporated in order to reveal the commercial and social uncertainties surrounding the artifact. During this analysis, five primary and five secondary stakeholders, with their complex networks of interests are identified. Finally, further research opportunities are specified such as the integration of various Big Data sources (e.g.: epigenomics or clinical records) into the software library.

EducationsMSc in Business Administration and E-business, (Graduate Programme) Final ThesisMSc in Business Administration and Information Systems, (Graduate Programme) Final Thesis
Publication date2020
Number of pages109