Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human genome to estimate the risk of a disease or disease-related trait for an individual. The potential benefits of PRSs include cost-effective enhancement of primary disease prevention, more refined diagnoses and improved precision when prescribing medicines. However, these must be weighed against the potential risks, such as uncertainties and biases in PRS performance, as well as potential misunderstanding and misuse of these within medical practice and in wider society. By addressing key issues including gaps in best practices, risk communication and regulatory frameworks, PRSs can be used responsibly to improve human health. Here, the International Common Disease Alliance's PRS Task Force, a multidisciplinary group comprising expertise in genetics, law, ethics, behavioral science and more, highlights recent research to provide a comprehensive summary of the state of polygenic score research, as well as the needs and challenges as PRSs move closer to widespread use in the clinic. As polygenic risk scores move closer to widespread clinical use, this Perspective summarizes the benefits, risks and challenges to be overcome. ; United States Department of Health & Human Services National Institutes of Health (NIH) - USA HL135824 HL109946 HL127564 R00 MH117229 Ministry of Education, Culture, Sports, Science and Technology, Japan (MEXT) Japan Society for the Promotion of Science Grants-in-Aid for Scientific Research (KAKENHI) 19H01021 20K21834 AMED JP21km0405211 JP21ek0109413 JP21gm4010006 JP21km0405217 JP21ek0410075 JST Moonshot RD JPMJMS2021 Academy of Finland 312062 336820 Horizon 2020 Research and Innovation Programme 101016775 PERSPECTIVE IAMP;I project - Government of Canada through Genome Canada Canadian Institutes of Health Research (CIHR) Ministere de l'Economie et de l'Innovation du Quebec through Genome Quebec Quebec Breast Cancer Foundation CHU de Quebec Foundation Ontario Research Fund Canada Research Chair in Law ...
Purpose To evaluate if nudges delivered by text message prior to an upcoming primary care visit can increase influenza vaccination rates. Design Randomized, controlled trial. Setting Two health systems in the Northeastern US between September 2020 and March 2021. Subjects 74,811 adults. Interventions Patients in the 19 intervention arms received 1-2 text messages in the 3 days preceding their appointment that varied in their format, interactivity, and content. Measures Influenza vaccination. Analysis Intention-to-treat. Results Participants had a mean (SD) age of 50.7 (16.2) years; 55.8% (41,771) were female, 70.6% (52,826) were White, and 19.0% (14,222) were Black. Among the interventions, 5 of 19 (26.3%) had a significantly greater vaccination rate than control. On average, the 19 interventions increased vaccination relative to control by 1.8 percentage points or 6.1% ( P = .005). The top performing text message described the vaccine to the patient as "reserved for you" and led to a 3.1 percentage point increase (95% CI, 1.3 to 4.9; P < .001) in vaccination relative to control. Three of the top five performing messages described the vaccine as "reserved for you." None of the interventions performed worse than control. Conclusions Text messages encouraging vaccination and delivered prior to an upcoming appointment significantly increased influenza vaccination rates and could be a scalable approach to increase vaccination more broadly.