Abstract
We present a method for communicating personalized genetic risk information to citizens and their physicians using a secure web portal. We apply the method for 3,177 Finnish individuals in the P5 Study where estimates of genetic and absolute risk, based on genetic and clinical risk factors, of future disease are reported to study participants, allowing individuals to participate in managing their own health. Our method facilitates using polygenic risk score as a personalized tool to estimate a person’s future disease risk while offering a way for health care professionals to utilize the polygenic risk scores as a preventive tool in patient care.
Highlights
The increasing accessibility and level of media coverage of direct-to-consumer (DTC) genomic testing provided by private companies has raised interest among individuals to receive and understand detailed information about their genetic background and its consequences for their health (Horton et al, 2019)
Web portals for returning genetic results have been established by research studies as well as commercial companies (Tabor et al, 2017; 23andMe, 2021; Widén et al, 2020; Invitae, 2021; Mytoolboxgenomics, 2021)
These applications usually focus on genomic risk only and they do not provide personalized absolute risk estimates of future disease based on both genomic and clinical risk factors
Summary
The increasing accessibility and level of media coverage of direct-to-consumer (DTC) genomic testing provided by private companies has raised interest among individuals to receive and understand detailed information about their genetic background and its consequences for their health (Horton et al, 2019). The DTC tests already present a new challenge for professionals in public health services, since the interpretation of these genomic test results is often requested from the general practitioners working in everyday patient care. Systematic use of genetic tests for common diseases in health care would further amplify the need for new methods and guidelines in the field. As genetic testing for multiple variants in the area of common complex diseases and traits becomes increasingly widespread the specialised clinics can no longer support interpretation of all results the citizens receive. There is a need for proof of concept studies on how genetic risk reports with information on common diseases could be delivered to both
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
