Author(s): Hailey Whittier, Quinn Beames
Mentor(s): Mary Davis
Institution BYU
Multiple Sclerosis is a neurodegenerative disorder characterized by myelin destruction that affects one million individuals in the United States. Early diagnosis of this disease leads to significant improvement in long-term quality of life for MS patients. To aid in this endeavor, this project is focused on attempting to calculate clinician derived Phenotypic risk scores from all the individuals in the All of Us database. By calculating accurate PheRS, we hope to shorten the time between the onset of symptoms and MS diagnosis. To calculate these Phenotypic risk scores (PheRS), we compiled a list of MS symptoms from the National MS Society’s website and found the corresponding ICD codes in the Electronic Health Records from the All of Us database. All of Us is a government-funded program initiated with the goal of improving medical care with a focus on providing a more diverse range of individuals, especially in minority groups not historically researched. Taking these ICD codes, we converted them to Phecodes to help us calculate the prevalence of each symptom in the All of Us population. Using the weighted prevalence calculation and the presence or absence of each symptom in every patient, we will calculate individual phenotypic risk scores. Our PheRS and its effectiveness in diagnosing MS can later be validated through statistical analysis comparing risk score outputs of case(MS) and control(non-MS) patients. Combining a PheRS with previously determined Genotypic Risk Scores, the research is aimed at providing a path to help future MS patients by creating new methods to arrive at an earlier diagnosis and ensuring a better quality of life.