Genetische Analysen im Kontext der personalisierten Medizin

ökonomische Betrachtungen zu Einsatz, Kosten, Faktoren, Strukturen und Implikationen in Deutschland

authored by: Marika Anne Plöthner
supervised by: Johann-Matthias Graf von der Schulenburg
Abstract: Genetic testing is an extension of diagnostic spectrum and provides a basis to integrate individual genetic information into the patient’s treatment management. The molecular genetic profile of patients provides diagnostic, prognostic and predictive information for diagnosis, disease progression, probabilities of disease, surveillance and therapeutic success. In addition to patient-relevant benefits, genetic testing may lead to a better allocation of resources in the healthcare system, for example, by avoidance of ineffective therapies. Due to considerable potential of genetic applications, genetic testing today is already indispensable in a large number of indications. The human genetic research as well as technological progress have been contributing to an ongoing expansion of possible applications. The present doctorate thesis addresses central issues of genetic testing in terms of structure, cost, application, factors and implications for the German healthcare system. This cumulative dissertation constitutes of nine publications. Health economic analysis regarding to the costs comprises a cost analysis of whole genome sequencing, budget-impact analyses for the use of whole genome sequencing in oncology and newborn screening, a claims data analysis of the costs of breast cancer as well as a systematic review of the cost-effectiveness of pharmacogenetics tests. The publication on the use of individualized medicine illustrates the potential of genetic testing for application in oncology healthcare. Two further publications address corresponding issues in healthcare structure. Economic framework with respect to the predictive potential of comprehensive genetic testing are discussed and defined. Due to the increasing complexity of genetic testing in the diagnostic process, an analysis of capacity of human genetic counselling structures is performed. A discrete-choice experiment evaluates the influencing factors for the execution of whole genome sequencing. Outside of quality-assured care, direct-to-consumer genetic testing via the Internet provides a further access possibility to the genetic analysis. In a systematic provider research, the current available supply is evaluated and the potential implications of internet-based genetic analysis for a solidary financed healthcare system are discussed. The genetic testing is the central tool of personalized medicine – a market characterized by a great development potential. Growing genetic knowledge leads to an increasing extension of application possibilities and application areas. Health economic evaluations are necessary to evaluate the costs and benefits of new applications and review the current healthcare structures and processes for possible adjustments.
Organisation(s): Institute of Insurance Business Administration
Type: Doctoral thesis
No. of pages: 175
Publication date: 2019
Publication status: Published
Sustainable Development Goals: SDG 3 - Good Health and Well-being
Electronic version(s): https://doi.org/10.15488/5235 (Access: Open)