Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps
Open accessAbstract
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.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Buniello, A., MacArthur, J. A. L., Cerezo, M., Harris, L. W., Hayhurst, J., Malangone, C., McMahon, A., Morales, J., Mountjoy, E., Sollis, E., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1120 · Cited by 4,000 · see citing works
Khera, A. V., Chaffin, M., Aragam, K. G., Haas, M. E., Roselli, C., Choi, S. H., Natarajan, P., Lander, E. S., Lubitz, S. A., Ellinor, P. T., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0183-z · Cited by 2,953 · see citing works
Clinical use of current polygenic risk scores may exacerbate health disparities
Martin, A. R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B. M., & Daly, M. J. (2019) · Nature Genetics · doi:10.1038/s41588-019-0379-x · Cited by 2,831 · see citing works
Self-citationThe personal and clinical utility of polygenic risk scores
Torkamani, A., Wineinger, N. E., & Topol, E. J. (2018) · Nature Reviews Genetics · doi:10.1038/s41576-018-0018-x · Cited by 1,605 · see citing works
Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease
Khera, A. V., Emdin, C. A., Drake, I., Natarajan, P., Bick, A. G., Cook, N. R., Chasman, D. I., Baber, U., Mehran, R., Rader, D. J., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1605086 · Cited by 1,460 · see citing works
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
Martin, A. R., Gignoux, C. R., Walters, R. K., Wojcik, G. L., Neale, B. M., Gravel, S., Daly, M. J., Bustamante, C. D., & Kenny, E. E. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.03.004 · Cited by 1,391 · see citing works
Self-citationPolygenic risk scores: from research tools to clinical instruments
Lewis, C. M., & Vassos, E. (2020) · Genome Medicine · doi:10.1186/s13073-020-00742-5 · Cited by 1,360 · see citing works
(2007) · Choice Reviews Online · doi:10.5860/choice.44-5683 · Cited by 1,297 · see citing works
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Mavaddat, N., Michailidou, K., Dennis, J., Lush, M. J., Fachal, L., Lee, A., Tyrer, J. P., Chen, T., Wang, Q., Bolla, M. K., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.11.002 · Cited by 1,083 · see citing works
Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults
Inouye, M., Abraham, G., Nelson, C. P., Wood, A., Sweeting, M. J., Dudbridge, F., Lai, F. Y., Kaptoge, S. K., Brożyńska, M., Wang, T., et al. (2018) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2018.07.079 · Cited by 814 · see citing works
Self-citationLee, A., Mavaddat, N., Hurson, A. N., Cunningham, A. P., Carver, T. J., Hartley, S., de Villiers, C. B., Izquierdo, Á., Simard, J., Schmidt, M. K., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-018-0406-9 · Cited by 725 · see citing works
Improving polygenic prediction in ancestrally diverse populations
Ruan, Y., Lin, Y.-F., Feng, Y.-C. A., Chen, C.-Y., Lam, M., Guo, Z., Initiatives, S. G. A., Ahn, Y. M., Akiyama, K., Arai, M., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01054-7 · Cited by 707 · see citing works
Self-citationMega, J. L., Stitziel, N. O., Smith, J. G., Chasman, D. I., Caulfield, M. J., Devlin, J. J., Nordio, F., Hyde, C. L., Cannon, C. P., Sacks, F. M., et al. (2015) · The Lancet · doi:10.1016/s0140-6736(14)61730-x · Cited by 704 · see citing works
The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation
Lambert, S. A., Gil, L., Jupp, S., Ritchie, S. C., Xu, Y., Buniello, A., McMahon, A., Abraham, G., Chapman, M., Parkinson, H., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00783-5 · Cited by 690 · see citing works
Self-citationRace and Genetic Ancestry in Medicine — A Time for Reckoning with Racism
Borrell, L. N., Elhawary, J. R., Fuentes‐Afflick, E., Witonsky, J. I., Bhakta, N. R., Wu, A. H. B., Bibbins-Domingo, K. B., Rodríguez‐Santana, J., LeNoir, M. A., Gavin, J. R., et al. (2021) · New England Journal of Medicine · doi:10.1056/nejmms2029562 · Cited by 656 · see citing works
Natarajan, P., Young, R., Stitziel, N. O., Padmanabhan, S., Baber, U., Mehran, R., Sartori, S., Fuster, V., Reilly, D. F., Butterworth, A., et al. (2017) · Circulation · doi:10.1161/circulationaha.116.024436 · Cited by 570 · see citing works
Towards clinical utility of polygenic risk scores
Lambert, S. A., Abraham, G., & Inouye, M. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz187 · Cited by 566 · see citing works
Self-citationElliott, J., Bodinier, B., Bond, T. A., Chadeau‐Hyam, M., Εvangelou, Ε., Moons, K. G. M., Dehghan, A., Muller, D. C., Elliott, P., & Tzoulaki, I. (2020) · JAMA · doi:10.1001/jama.2019.22241 · Cited by 471 · see citing works
Improving reporting standards for polygenic scores in risk prediction studies
Wand, H., Lambert, S. A., Tamburro, C. P., Iacocca, M. A., O’Sullivan, J. W., Sillari, C. H., Kullo, I. J., Rowley, R. K., Dron, J. S., Brockman, D., et al. (2021) · Nature · doi:10.1038/s41586-021-03243-6 · Cited by 470 · see citing works
Self-citationVariable prediction accuracy of polygenic scores within an ancestry group
Mostafavi, H., Harpak, A., Agarwal, I., Conley, D., Pritchard, J. K., & Przeworski, M. (2020) · eLife · doi:10.7554/elife.48376 · Cited by 457 · see citing works
Genome-wide association study identifies 112 new loci for body mass index in the Japanese population
Akiyama, M., Okada, Y., Kanai, M., Takahashi, A., Momozawa, Y., Ikeda, M., Iwata, N., Ikegawa, S., Hirata, M., Matsuda, K., et al. (2017) · Nature Genetics · doi:10.1038/ng.3951 · Cited by 455 · see citing works
Self-citationPolygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Fahed, A. C., Wang, M., Homburger, J. R., Patel, A. P., Bick, A. G., Neben, C. L., Lai, C., Brockman, D., Philippakis, A., Ellinor, P. T., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17374-3 · Cited by 444 · see citing works
Self-citationFrom race-based to race-conscious medicine: how anti-racist uprisings call us to act
Cerdeña, J. P., Plaisime, M. V., & Tsai, J. W. (2020) · The Lancet · doi:10.1016/s0140-6736(20)32076-6 · Cited by 437 · see citing works
Thomas, N. J., Jones, S. E., Weedon, M. N., Shields, B. M., Oram, R. A., & Hattersley, A. T. (2018) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(17)30362-5 · Cited by 417 · see citing works
The Global State of the Genetic Counseling Profession
Abacan, M. A. R., Alsubaie, L., Barlow-Stewart, K. K., et al. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0252-x · Cited by 378 · see citing works
Sharp, S. A., Rich, S. S., Wood, A. R., Jones, S. E., Beaumont, R. N., Harrison, J. W., Schneider, D. A., Locke, J. M., Tyrrell, J., Weedon, M. N., et al. (2019) · Diabetes Care · doi:10.2337/dc18-1785 · Cited by 366 · see citing works
Oram, R. A., Patel, K. A., Hill, A., Shields, B. M., McDonald, T. J., Jones, A. G., Hattersley, A. T., & Weedon, M. N. (2015) · Diabetes Care · doi:10.2337/dc15-1111 · Cited by 351 · see citing works
The GWAS Diversity Monitor tracks diversity by disease in real time
Mills, M. C., & Rahal, C. (2020) · Nature Genetics · doi:10.1038/s41588-020-0580-y · Cited by 342 · see citing works
Genomic prediction of coronary heart disease
Abraham, G., Havulinna, A. S., Bhalala, O. G., Byars, S. G., De Livera, A. M., Yetukuri, L., Tikkanen, E., Perola, M., Schunkert, H., Sijbrands, E. J., et al. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehw450 · Cited by 338 · see citing works
Self-citationGenetic Risk Scores for Diabetes Diagnosis and Precision Medicine
Udler, M. S., McCarthy, M. I., Florez, J. C., & Mahajan, A. (2019) · Endocrine Reviews · doi:10.1210/er.2019-00088 · Cited by 302 · see citing works
Self-citationCragun, D. L., Weidner, A. E., Lewis, C. C., Bonner, D. E., Kim, J., Vadaparampil, S. T., & Pal, T. (2017) · Cancer · doi:10.1002/cncr.30621 · Cited by 292 · see citing works
Tada, H., Melander, O., Louie, J. Z., Catanese, J. J., Rowland, C. M., Devlin, J. J., Kathiresan, S., & Shiffman, D. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehv462 · Cited by 285 · see citing works
The WISDOM Study: breaking the deadlock in the breast cancer screening debate
Esserman, L. J., the WISDOM Study and Athena Investigators, Anton‐Culver, H., Borowsky, A. D., Brain, S., Cink, T. M., Crawford, B., Eklund, M., Esserman, L. J., Fenton, J. J., et al. (2017) · npj Breast Cancer · doi:10.1038/s41523-017-0035-5 · Cited by 273 · see citing works
Kullo, I. J., Jouni, H., Austin, E. E., Brown, S.-A., Kruisselbrink, T. M., Isseh, I. N., Haddad, R. A., Marroush, T. S., Shameer, K., Olson, J. E., et al. (2016) · Circulation · doi:10.1161/circulationaha.115.020109 · Cited by 267 · see citing works
McBride, C. M., Koehly, L. M., Sanderson, S. C., & Kaphingst, K. A. (2010) · Annual Review of Public Health · doi:10.1146/annurev.publhealth.012809.103532 · Cited by 243 · see citing works
Self-citationDamask, A., Steg, P. G., Schwartz, G. G., Szarek, M. J., Hagström, E., Badimón, L., Chapman, M. J., Boileau, C., Tsimikas, S., Ginsberg, H. N., et al. (2019) · Circulation · doi:10.1161/circulationaha.119.044434 · Cited by 239 · see citing works
Carver, T., Hartley, S., Lee, A., Cunningham, A., Archer, S., de Villiers, C. B., Roberts, J., Ruston, R., Walter, F. M., Tischkowitz, M. D., et al. (2021) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-20-1319 · Cited by 234 · see citing works
Morales, J., Welter, D., Bowler, E. H., Cerezo, M., Harris, L. W., McMahon, A. C., Hall, P., Junkins, H. A., Milano, A., Hastings, E., et al. (2018) · Genome Biology · doi:10.1186/s13059-018-1396-2 · Cited by 217 · see citing works
Marston, N., Kamanu, F., Nordio, F., Gurmu, Y., Roselli, C., Sever, P., Pedersen, T. R., KEECH, A. C., Wang, H., Pineda, A. L., et al. (2019) · Circulation · doi:10.1161/circulationaha.119.043805 · Cited by 216 · see citing works
Problems with Using Polygenic Scores to Select Embryos
Turley, P., Meyer, M. N., Wang, N., Cesarini, D., Hammonds, E., Martin, A. R., Neale, B. M., Rehm, H. L., Wilkins-Haug, L., Benjamin, D. J., et al. (2021) · New England Journal of Medicine · doi:10.1056/nejmsr2105065 · Cited by 187 · see citing works
Self-citationThomas, N. J., Lynam, A. L., Hill, A. V., Weedon, M. N., Shields, B. M., Oram, R. A., McDonald, T. J., Hattersley, A. T., & Jones, A. G. (2019) · Diabetologia · doi:10.1007/s00125-019-4863-8 · Cited by 183 · see citing works
Schwartz, M. L. B., McCormick, C. Z., Lazzeri, A. L., Lindbuchler, D. M., Hallquist, M. L. G., Manickam, K., Buchanan, A. H., Rahm, A. K., Giovanni, M. A., Frisbie, L. R., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.07.009 · Cited by 182 · see citing works
Self-citationPolygenic risk scores in the clinic: new perspectives needed on familiar ethical issues
Lewis, A. C. F., & Green, R. C. (2021) · Genome Medicine · doi:10.1186/s13073-021-00829-7 · Cited by 180 · see citing works
Self-citationGenetic Risk Prediction and a 2-Stage Risk Screening Strategy for Coronary Heart Disease
Tikkanen, E., Havulinna, A. S., Palotie, A., Salomaa, V., & Ripatti, S. (2013) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.112.301120 · Cited by 175 · see citing works
Self-citationThe role of polygenic risk and susceptibility genes in breast cancer over the course of life
Mars, N., Widén, E., Kerminen, S., Meretoja, T. J., Pirinen, M., Parolo, P. D. B., Palta, P., FinnGen, Havulinna, A. S., Elliott, A., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-19966-5 · Cited by 161 · see citing works
Self-citationPolygenic risk scores in cardiovascular risk prediction: A cohort study and modelling analyses
Sun, L., Pennells, L. A. M., Kaptoge, S. K., Nelson, C. P., Abraham, G., Arnold, M., Bell, S., Bolton, T., Burgess, S., Dudbridge, F., et al. (2021) · PLoS Medicine · doi:10.1371/journal.pmed.1003498 · Cited by 161 · see citing works
Self-citationMultilocus Genetic Risk Scores for Coronary Heart Disease Prediction
Ganna, A., Magnusson, P. K. E., Pedersen, N. L., de Faire, U., Reilly, M., Ärnlöv, J., Sundström, J., Hamsten, A., & Ingelsson, E. (2013) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.113.301218 · Cited by 156 · see citing works
Sickle cell trait diagnosis: clinical and social implications
Naik, R. P. P., & Haywood, C. (2015) · Hematology · doi:10.1182/asheducation-2015.1.160 · Cited by 154 · see citing works
A combined risk score enhances prediction of type 1 diabetes among susceptible children
Ferrat, L. A., Vehik, K., Sharp, S. A., Lernmark, Å., Rewers, M. J., She, J.-X., Ziegler, A.-G., Toppari, J., Akolkar, B., Krischer, J. P., et al. (2020) · Nature Medicine · doi:10.1038/s41591-020-0930-4 · Cited by 148 · see citing works
Dikilitas, O., Schaid, D. J., Kosel, M., Carroll, R. J., Chute, C. G., Denny, J. C., Fedotov, A., Feng, Q., Hakonarson, H. H., Jarvik, G. P., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.04.002 · Cited by 145 · see citing works
Self-citationLearning one’s genetic risk changes physiology independent of actual genetic risk
Turnwald, B. P., Goyer, J. P., Boles, D. Z., Silder, A., Delp, S. L., & Crum, A. J. (2018) · Nature Human Behaviour · doi:10.1038/s41562-018-0483-4 · Cited by 142 · see citing works
The Association between Race and Attitudes about Predictive Genetic Testing
Peters, N., Rose, A., & Armstrong, K. (2004) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.361.13.3 · Cited by 141 · see citing works
Barnes, D. R., Rookus, M. A., McGuffog, L., Leslie, G., Mooij, T. M., Dennis, J., Mavaddat, N., Adlard, J., Ahmed, M., Aittomäki, K., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0862-x · Cited by 138 · see citing works
Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants
Romanos, J., Rosén, A., Kumar, V., Trynka, G., Franke, L., Szperl, A., Gutierrez‐Achury, J., van Diemen, C. C., Kanninga, R., Jankipersadsing, S. A., et al. (2013) · Gut · doi:10.1136/gutjnl-2012-304110 · Cited by 129 · see citing works
Lineweaver, T. T., Bondi, M. W., Galasko, D. R., & Salmon, D. P. (2013) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2013.12121590 · Cited by 127 · see citing works
Polygenic Scores for Height in Admixed Populations
Bitarello, B. D., & Mathieson, I. (2020) · G3 Genes Genomes Genetics · doi:10.1534/g3.120.401658 · Cited by 118 · see citing works
Li, X., Tong, X., Yeung, W. W. Y., Peng, K., Yum, S. H. H., Chui, C. S. L., Lai, F. T. T., Wan, E. Y. F., Wong, C. K. H., Chan, E. W., et al. (2021) · Annals of the Rheumatic Diseases · doi:10.1136/annrheumdis-2021-221571 · Cited by 117 · see citing works
Geographic variation and bias in polygenic scores of complex diseases and traits in Finland
Kerminen, S., Martin, A. R., Koskela, J., Ruotsalainen, S. E., Havulinna, A. S., Surakka, I., Palotie, A., Perola, M., Salomaa, V., Daly, M. J., et al. (2018) · doi:10.1101/485441 · Cited by 115 · see citing works
Self-citationImproving Polygenic Prediction in Ancestrally Diverse PopulationsPreprint
Ruan, Y., Lin, K., Feng, Y. A., et al. (2021) · medRxiv · doi:10.1101/2020.12.27.20248738 · Cited by 109 · see citing works
Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland
Kerminen, S., Martin, A. R., Koskela, J. T., Ruotsalainen, S., Havulinna, A. S., Surakka, I. L., Palotie, A. V., Perola, M., Salomaa, V. V., Daly, M. J., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.05.001 · Cited by 108 · see citing works
Self-citationSakaue, S., Hirata, J., Kanai, M., Ken, S., Akiyama, M., Too, C. L., Arayssi, T., Hammoudeh, M., Emadi, S. A., Masri, B. K., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-15194-z · Cited by 108 · see citing works
Self-citationCarver, T. J., Hartley, S., Lee, A., et al. (2020) · Apollo (University of Cambridge) · doi:10.17863/cam.62293 · Cited by 104 · see citing works
Accurate and Robust Genomic Prediction of Celiac Disease Using Statistical Learning
Abraham, G., Tye–Din, J. A., Bhalala, O. G., Kowalczyk, A., Zobel, J., & Inouye, M. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004137 · Cited by 103 · see citing works
Self-citationMarnetto, D., Pärna, K., Läll, K., Molinaro, L., Montinaro, F., Haller, T., Metspalu, M., Mägi, R., Fischer, K., & Pagani, L. (2020) · Nature Communications · doi:10.1038/s41467-020-15464-w · Cited by 98 · see citing works
Using Genetic Technologies To Reduce, Rather Than Widen, Health Disparities
Smith, C. E., Fullerton, S. M., Dookeran, K. A., et al. (2016) · Health Affairs · doi:10.1377/hlthaff.2015.1476 · Cited by 83 · see citing works
Polygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis
Li, Z., Wu, X., Leo, P. J., de Guzman, E., Akkoç, N., Bréban, M., Macfarlane, G. J., Mahmoudi, M., Marzo‐Ortega, H., Anderson, L. K., et al. (2021) · Annals of the Rheumatic Diseases · doi:10.1136/annrheumdis-2020-219446 · Cited by 83 · see citing works
Forgetta, V., Keller‐Baruch, J., Forest, M., Durand, A., Bhatnagar, S., Kemp, J. P., Nethander, M., Evans, D. S., Morris, J. A., Kiel, D. P., et al. (2020) · PLoS Medicine · doi:10.1371/journal.pmed.1003152 · Cited by 77 · see citing works
Self-citationPolygenic risk scores in the clinic: Translating risk into action
Lewis, A. C. F., Green, R. C., & Vassy, J. L. (2021) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2021.100047 · Cited by 66 · see citing works
Self-citationBrockman, D., Petronio, L., Dron, J. S., Kwon, B. C., Vosburg, T., Nip, L., Tang, A., O’Reilly, M., Lennon, N. J., Wong, B., et al. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-01056-0 · Cited by 60 · see citing works
Improving reporting standards for polygenic scores in risk prediction studiesPreprint
Wand, H., Lambert, S. A., Tamburro, C. P., Iacocca, M. A., O’Sullivan, J. W., Sillari, C. H., Kullo, I. J., Rowley, R. K., Dron, J. S., Brockman, D., et al. (2020) · medRxiv · doi:10.1101/2020.04.23.20077099 · Cited by 55 · see citing works
Self-citationJiang, G., Luk, A. O. Y., Tam, C. H. T., Lau, E. S. H., Ozaki, R., Chow, E., Kong, A. P. S., Lim, C. K. P., Lee, K. F., Siu, S. C., et al. (2020) · PLoS Medicine · doi:10.1371/journal.pmed.1003209 · Cited by 51 · see citing works
Eugenics and genetic discrimination.
Holtzman, N. A., & Rothstein, M. A. (1992) · PubMed · Cited by 48 · see citing works
The language of race, ethnicity, and ancestry in human genetic researchPreprint
Birney, E., Inouye, M., Raff, J., et al. (2021) · arXiv (Cornell University) · doi:10.48550/arxiv.2106.10041 · Cited by 48 · see citing works
Self-citationOn What We Have Learned and Still Need to Learn about the Psychosocial Impacts of Genetic Testing
Parens, E., & Appelbaum, P. S. (2019) · The Hastings Center Report · doi:10.1002/hast.1011 · Cited by 45 · see citing works
Effect of Disclosing Genetic Risk for Coronary Heart Disease on Information Seeking and Sharing
Brown, S.-A. N., Jouni, H., Marroush, T. S., & Kullo, I. J. (2017) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.116.001613 · Cited by 36 · see citing works
Of Screening, Stratification, and Scores
Knoppers, B. M., Bernier, A., Moreno, P. G., & Pashayan, N. (2021) · Journal of Personalized Medicine · doi:10.3390/jpm11080736 · Cited by 35 · see citing works
Self-citationExplaining, not just predicting, drives interest in personal genomics
for the PGen Study Group, Meisel, S. F., Carere, D. A., et al. (2015) · Genome Medicine · doi:10.1186/s13073-015-0188-5 · Cited by 34 · see citing works
Reproductive Genetic Counseling to Asian‐Pacific and Latin American Immigrants
Mittman, I. S., Crombleholme, W. R., Green, J. R., et al. (1998) · Journal of Genetic Counseling · doi:10.1023/a:1022816128420 · Cited by 30 · see citing works
Genomic prediction of celiac disease targeting HLA-positive individuals
Abraham, G., Rohmer, A., Tye–Din, J. A., & Inouye, M. (2015) · Genome Medicine · doi:10.1186/s13073-015-0196-5 · Cited by 30 · see citing works
Self-citationThree models for the regulation of polygenic scores in reproduction
Munday, S., & Savulescu, J. (2021) · Journal of Medical Ethics · doi:10.1136/medethics-2020-106588 · Cited by 30 · see citing works
Genomic risk scores for juvenile idiopathic arthritis and its subtypes
Cánovas, R., Cobb, J. E., Brożyńska, M., Bowes, J., Li, Y. R., Smith, S. L., Hakonarson, H. H., Thomson, W., Ellis, J. A., Abraham, G., et al. (2020) · Annals of the Rheumatic Diseases · doi:10.1136/annrheumdis-2020-217421 · Cited by 28 · see citing works
Self-citationTwo Threats to Precision Medicine Equity
Matthew, D. B. (2019) · Ethnicity & Disease · doi:10.18865/ed.29.s3.629 · Cited by 27 · see citing works
Sharp, S. A., Jones, S. E., Kimmitt, R. A., Weedon, M. N., Halpin, A., Wood, A. R., Beaumont, R. N., King, S., van Heel, D. A., Campbell, P. M., et al. (2020) · Alimentary Pharmacology & Therapeutics · doi:10.1111/apt.15826 · Cited by 26 · see citing works
Thelwall, M. A., Munafo, M. R., Más-Bleda, A., Stuart, E., Makita, M., Weigert, V., Keene, C., Khan, N., Drax, K., & Kousha, K. (2020) · PLoS ONE · doi:10.1371/journal.pone.0229578 · Cited by 25 · see citing works
Leveraging fine-mapping and non-European training data to improve trans-ethnic polygenic risk scoresPreprint
Weissbrod, O., Kanai, M., Shi, H., Gazal, S., Peyrot, W., Khera, A., Okada, Y., Martin, A. R., Finucane, H., & Price, A. L. (2021) · medRxiv · doi:10.1101/2021.01.19.21249483 · Cited by 25 · see citing works
Self-citationA Genomic Test for Colorectal Cancer Risk: Is This Acceptable and Feasible in Primary Care?
Saya, S., McIntosh, J., Winship, I., et al. (2020) · Public Health Genomics · doi:10.1159/000508963 · Cited by 23 · see citing works
Widén, E., Junna, N., Ruotsalainen, S., et al. (2020) · medRxiv · doi:10.1101/2020.09.18.20197137 · Cited by 21 · see citing works
Schwartz, M. L. B., McCormick, C. Z., Lazzeri, A. L., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/166975 · Cited by 20 · see citing works
Aizawa, Y., Watanabe, A., & Kato, K. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.646177 · Cited by 20 · see citing works
Self-citationGenetic risk scores for cardiometabolic traits in sub-Saharan African populations
Ekoru, K., Adeyemo, A., Chen, G., Doumatey, A. P., Zhou, J., Bentley, A. R., Shriner, D., & Rotimi, C. N. (2021) · International Journal of Epidemiology · doi:10.1093/ije/dyab046 · Cited by 15 · see citing works
Self-citationPopulation Whole Exome Screening
Heck, P. R., & Meyer, M. N. (2019) · Medical Clinics of North America · doi:10.1016/j.mcna.2019.08.004 · Cited by 14 · see citing works
Self-citationLarge uncertainty in individual PRS estimation impacts PRS-based risk stratificationPreprint
Ding, Y., Hou, K., Burch, K. S., Lapinska, S., Privé, F., Vilhjálmsson, B., Sankararaman, S., & Pasaniuc, B. (2020) · bioRxiv · doi:10.1101/2020.11.30.403188 · Cited by 12 · see citing works
Cavernous Hemangioma of the Ovary
Gay, R. M., & Janovski, N. A. (2010) · Gynaecologia · doi:10.1159/000302090 · Cited by 11 · see citing works
Genetic database software as medical devices
Thorogood, A., Touré, S. B., Ordish, J., et al. (2018) · Human Mutation · doi:10.1002/humu.23621 · Cited by 11 · see citing works
Brockman, D., Petronio, L., Dron, J. S., et al. (2021) · medRxiv · doi:10.1101/2021.04.14.21255397 · Cited by 10 · see citing works
Sex-specific survival bias and interaction modeling in coronary artery disease risk predictionPreprint
Surakka, I. L., Wolford, B. N., Ritchie, S. C., et al. (2021) · medRxiv · doi:10.1101/2021.06.23.21259247 · Cited by 6 · see citing works
Kubilay, G. (1983) · PubMed · Cited by 5 · see citing works
Genetic Risk Scores for Cardiometabolic Traits in Sub-Saharan African PopulationsPreprint
Ekoru, K., Adeyemo, A., Chen, G., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.05.21.109199 · Cited by 4 · see citing works
Self-citationThelwall, M. A., Munafo, M. R., Más-Bleda, A., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/622795 · Cited by 3 · see citing works
Genomic risk scores for juvenile idiopathic arthritis and its subtypesPreprint
Cánovas, R., Cobb, J. E., Brożyńska, M., et al. (2020) · medRxiv · doi:10.1101/2020.02.20.20025924 · Cited by 3 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- Center for research on Genomics and Global Health, National Human Genome research Institute, NIH, bethesda, mD, USA. 2 broad Institute of Harvard and mIT, Cambridge, mA, USA. 3 Genetic Counselling Services, Fetal Care Center Dallas, Dallas, TX, USA. 4 London School of Hygiene and Tropical medicine, London, UK. 5 Uganda medical Informatics Centre (UmIC), mrC/UVrI and LSHTm (Uganda research Unit), entebbe, Uganda.
Cited by
Sorted by citations
Thompson, D. J., Wells, D., Selzam, S., Peneva, I., Moore, R., Sharp, K., Tarran, W. A., Beard, E. J., Riveros-Mckay, F., Giner-Delgado, C., et al. (2022) · doi:10.1101/2022.06.16.22276246 · Cited by 280 · see citing works
- Authors
- Polygenic Risk Score Task Force of the International Common Disease Alliance, Adeyemo, A., Balaconis, M. K., Darnes, D. R., Fatumo, S., Granados Moreno, P., Hodonsky, C. J., Inouye, M., Kanai, M., Kato, K., Knoppers, B. M., Lewis, A. C. F., Martin, A. R., McCarthy, M. I., Meyer, M. N., Okada, Y., Richards, J. B., Richter, L., Ripatti, S., Rotimi, C. N., Sanderson, S. C., Sturm, A. C., Verdugo, R. A., Widen, E., Willer, C. J., Wojcik, G. L., & Zhou, A.
- Affiliations
- National Institutes of Health (US)
- Broad Institute (US)
- London School of Hygiene & Tropical Medicine (GB)
- University of Cambridge (GB)
- Massachusetts General Hospital (US)
- McGill University (CA)
- Harvard University (US)
- Genentech (US)
- Geisinger Health System (US)
- Jewish General Hospital (CA)
- Vanderbilt University (US)
- PHG Foundation (GB)
- University of Helsinki (FI)
- Johns Hopkins University (US)
- Color (United States) (US)
- Corresponding author
- Inouye, Michael
- Willer, Cristen J.
- ORCID
- Adeyemo, Adebowale
- Balaconis, Mary K.
- Darnes, Deanna R.
- Fatumo, Segun
- Hodonsky, Chani J.
- Inouye, Michael
- Kanai, Masahiro
- Knoppers, Bartha M.
- Lewis, Anna C. F.
- Martin, Alicia R.
- McCarthy, Mark I.
- Meyer, Michelle N.
- Okada, Yukinori
- Richards, J. Brent
- Richter, Lucas
- Ripatti, Samuli
- Rotimi, Charles N.
- Sanderson, Saskia C.
- Sturm, Amy C.
- Verdugo, Ricardo A.
- Willer, Cristen J.
- Wojcik, Genevieve L.
- Zhou, Alicia
- Venue
- Nature Medicine
- Published
- 2021-11
- Volume
- 27
- Issue
- 11
- Pages
- 1876-1884
- ISSN
- 1078-8956 (ISSN-L)
- 1546-170X
- OpenAlex
- W3217131706
- Cited by
- 413
- References
- 100
- Citations by year
- 2026: 41 · 2025: 80 · 2024: 100 · 2023: 87 · 2022: 104 · 2021: 1
- FWCI
- 10.86
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Nature Medicine (publishedVersion)
- PubMed (publishedVersion)
- Universidad de Chile (submittedVersion, cc-by-nc-nd)
- Apollo (University of Cambridge) (submittedVersion)
- Apollo
- Funders
- British Heart Foundation (RG/12/12/30194)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- polygenic risk score, clinical implementation, disease prevention, precision medicine, risk communication, regulatory framework, genetic risk prediction, best practices
- MeSH terms
- Alleles, Data Collection, Humans, Phenotype, Recurrence, Risk Factors, Genome, Human, Disease Progression, Genetic Predisposition to Disease, Multifactorial Inheritance
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review