Increasing amounts of genetic data have led to the development of polygenic risk scores (PRSs) for a variety of diseases. These scores, built from the summary statistics of genome-wide association studies (GWASs), are able to stratify individuals based on their genetic risk of developing various common diseases and could potentially be used to optimize the use of screening and preventative treatments and improve personalized care for patients. Many challenges are yet to be overcome, including PRS validation, healthcare professional and patient education, and healthcare systems integration. Ethical challenges are also present in how this information is used and the current lack of diverse populations with PRSs available. In this review, we discuss the topics above and cover the nature of PRSs, visualization schemes, and how PRSs can be improved. With these tools on the horizon for multiple diseases, scientists, clinicians, health systems, regulatory bodies, and the public should discuss the uses, benefits, and potential risks of PRSs.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8290135 | PMC |
| http://dx.doi.org/10.1186/s40246-021-00339-y | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genetic predisposition to high circulating levels of interleukin 6 and risk for Alzheimer's disease. Discovery and replication.
J Prev Alzheimers Dis
January 2025
1st Department of Neurology, Aiginition Hospital, National and Kapodistrian University of Athens Medical School, Athens, Greece; Department of Neurology, The Gertrude H. Sergievsky Center, Taub Institute for Research in Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA. Electronic address:
Importance: Aging is accompanied by immune dysregulation, which has been implicated in Alzheimer's disease (AD) pathogenesis. Individuals who are genetically predisposed to elevated levels of proinflammatory mediators might be at increased risk for AD.
Objective: To investigate whether genetic propensity for higher circulating levels of interleukin 6 (IL-6) is associated with AD risk.
Evaluation of polygenic risk scores for hormones and receptors levels in patients with vestibulodynia: a case-control study.
J Sex Med
January 2025
Clinical Obstetric and Gynecological V Buzzi, ASST-FBF-Sacco, Via Castelvetro 24-20124-University of the Study of Milan, Milan, Italy.
Background: Vulvodynia is a multifactorial disease affecting 7%-16% of reproductive-aged women in general population; however, little is still known about the genetics underlying this complex disease.
Aim: To compare polygenic risk scores for hormones and receptors levels in a case-control study to investigate their role in vulvodynia and their correlation with clinical phenotypes.
Methods: Our case-control study included patients with vestibulodynia (VBD) and healthy women.
Late-onset diseases and patient education: additional considerations for polygenic risk score regulation.
J Med Ethics
January 2025
Department of Biology, Stanford University, Stanford, California, USA
In a recent article, Haining outline several ethical and regulatory considerations for polygenic risk scores (PRSs), which may expand current embryonic screening to include polygenic diseases and non-disease traits. I argue in this response that the authors overlook a few crucial issues that nations should address. For adult-onset diseases, regulations must not only account for predictive accuracy of PRSs but also establish the precise circumstances that warrant testing-such as a disease's severity and the average age at which symptoms manifest.
View Article and Find Full Text PDFEvaluation of Polygenic Risk Score for Prediction of Childhood Onset and Severity of Asthma.
Int J Mol Sci
December 2024
Institute of Biochemistry and Genetics, Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia.
Asthma is a common complex disease with susceptibility defined through an interplay of genetic and environmental factors. Responsiveness to asthma treatment varies between individuals and is largely determined by genetic variability. The polygenic score (PGS) approach enables an individual risk of asthma and respective response to drug therapy.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!