Predictive Healthcare Cervical Cancer Screening Risk Stratification and Genetic Disease Markers

University dissertation from Uppsala : Acta Universitatis Upsaliensis

Abstract: The use of Machine Learning is rapidly expanding into previously uncharted waters. In the medicine fields there are vast troves of data available from hospitals, biobanks and registries that now are being explored due to the tremendous advancement in computer science and its related hardware. The progress in genomic extraction and analysis has made it possible for any individual to know their own genetic code. Genetic testing has become affordable and can be used as a tool in treatment, discovery, and prognosis of individuals in a wide variety of healthcare settings. This thesis addresses three different approaches to-wards predictive healthcare and disease exploration; first, the exploita-tion of diagnostic data in Nordic screening programmes for the purpose of identifying individuals at high risk of developing cervical cancer so that their screening schedules can be intensified in search of new dis-ease developments. Second, the search for genomic markers that can be used either as additions to diagnostic data for risk predictions or as can-didates for further functional analysis. Third, the development of a Ma-chine Learning pipeline called ||-ROSETTA that can effectively process large datasets in the search for common patterns. Together, this provides a functional approach to predictive healthcare that allows intervention at early stages of disease development resulting in treatments with reduced health consequences at a lower financial burden