Impute.me: An Open-Source, Non-profit Tool for Using Data From Direct-to-Consumer Genetic Testing to Calculate and Interpret Polygenic Risk Scores.
direct-to-consumer
genetics
personal genomes
polygenic risk scores
risk prediction
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2020
2020
Historique:
received:
29
11
2019
accepted:
11
05
2020
entrez:
28
7
2020
pubmed:
28
7
2020
medline:
28
7
2020
Statut:
epublish
Résumé
To date, interpretation of genomic information has focused on single variants conferring disease risk, but most disorders of major public concern have a polygenic architecture. Polygenic risk scores (PRSs) give a single measure of disease liability by summarizing disease risk across hundreds of thousands of genetic variants. They can be calculated in any genome-wide genotype data-source, using a prediction model based on genome-wide summary statistics from external studies. As genome-wide association studies increase in power, the predictive ability for disease risk will also increase. Although PRSs are unlikely ever to be fully diagnostic, they may give valuable medical information for risk stratification, prognosis, or treatment response prediction. Public engagement is therefore becoming important on the potential use and acceptability of PRSs. However, the current public perception of genetics is that it provides "yes/no" answers about the presence/absence of a condition, or the potential for developing a condition, which in not the case for common, complex disorders with polygenic architecture. Meanwhile, unregulated third-party applications are being developed to satisfy consumer demand for information on the impact of lower-risk variants on common diseases that are highly polygenic. Often, applications report results from single-nucleotide polymorphisms (SNPs) and disregard effect size, which is highly inappropriate for common, complex disorders where everybody carries risk variants. Tools are therefore needed to communicate our understanding of genetic vulnerability as a continuous trait, where a genetic liability confers risk for disease. Impute.me is one such tool, whose focus is on education and information on common, complex disorders with polygenetic architecture. Its research-focused open-source website allows users to upload consumer genetics data to obtain PRSs, with results reported on a population-level normal distribution. Diseases can only be browsed by
Identifiants
pubmed: 32714365
doi: 10.3389/fgene.2020.00578
pmc: PMC7340159
doi:
Types de publication
Journal Article
Langues
eng
Pagination
578Subventions
Organisme : NIMH NIH HHS
ID : R01 MH109897
Pays : United States
Organisme : NIMH NIH HHS
ID : R37 MH057881
Pays : United States
Organisme : Medical Research Council
ID : MR/N015746/1
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : U01 MH103392
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH109677
Pays : United States
Organisme : NIMH NIH HHS
ID : P50 MH084053
Pays : United States
Organisme : NIDA NIH HHS
ID : HHSN271201300031C
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH110921
Pays : United States
Organisme : NIMH NIH HHS
ID : P50 MH066392
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH080405
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH085542
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH097276
Pays : United States
Organisme : NIA NIH HHS
ID : P01 AG002219
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH093725
Pays : United States
Organisme : NIA NIH HHS
ID : P50 AG005138
Pays : United States
Informations de copyright
Copyright © 2020 Folkersen, Pain, Ingason, Werge, Lewis and Austin.
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