Implementation and implications for polygenic risk scores in healthcare

被引：55

作者：

Slunecka, John L. ^{[1
]}

van der Zee, Matthijs D. ^{[2
]}

Beck, Jeffrey J. ^{[1
]}

Johnson, Brandon N. ^{[1
]}

Finnicum, Casey T. ^{[1
]}

Pool, Rene ^{[2
]}

Hottenga, Jouke-Jan ^{[2
]}

de Geus, Eco J. C. ^{[2
]}

Ehli, Erik A. ^{[1
]}

机构：

[1] Avera McKennan & Univ Hlth Ctr, Avera Inst Human Genet, Sioux Falls, SD 57105 USA

[2] Vrije Univ Amsterdam, Dept Biol Psychol, Netherlands Twin Register, Amsterdam, Netherlands

来源：

HUMAN GENOMICS | 2021年 / 15卷 / 01期

关键词：

Polygenic risk score; PRS; Clinical genetics; Genetic risk; Risk stratification; Public health; GENOME-WIDE ASSOCIATION; GENETIC RISK; FAMILY-HISTORY; CARDIOVASCULAR-DISEASE; TASK-FORCE; CANCER; ACCURACY; POPULATION; PREVENTION; DEPRESSION;

D O I：

10.1186/s40246-021-00339-y

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：18

共 69 条

[1] Polygenic Risk Score, Parental Socioeconomic Status, Family History of Psychiatric Disorders, and the Risk for Schizophrenia A Danish Population-Based Study and Meta-analysis [J].

Agerbo, Esben ;

Sullivan, Patrick F. ;

Vilhjalmsson, Bjarni J. ;

Pedersen, Carsten B. ;

Mors, Ole ;

Borglum, Anders D. ;

Hougaard, David M. ;

Hollegaard, Mads V. ;

Meier, Sandra ;

Mattheisen, Manuel ;

Ripke, Stephan ;

Wray, Naomi R. ;

Mortensen, Preben B. .

JAMA PSYCHIATRY, 2015, 72 (07) :635-641

[2] Towards precision medicine [J].

Ashley, Euan A. .

NATURE REVIEWS GENETICS, 2016, 17 (09) :507-522

[3] Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer [J].

Augustinsson, Annelie ;

Ellberg, Carolina ;

Kristoffersson, Ulf ;

Borg, Ake ;

Olsson, Hakan .

ACTA ONCOLOGICA, 2018, 57 (05) :595-603

[4] Genetic Similarity Assessment of Twin-Family Populations by Custom-Designed Genotyping Array [J].

Beck, Jeffrey J. ;

Hottenga, Jouke-Jan ;

Mbarek, Hamdi ;

Finnicum, Casey T. ;

Ehli, Erik A. ;

Hur, Yoon-Mi ;

Martin, Nicholas G. ;

de Geus, Eco J. C. ;

Boomsma, Dorret, I ;

Davies, Gareth E. .

TWIN RESEARCH AND HUMAN GENETICS, 2019, 22 (04) :210-219

[5] Diversity and inclusion in genomic research: why the uneven progress? [J].

Bentley A.R. ;

Callier S. ;

Rotimi C.N. .

Journal of Community Genetics, 2017, 8 (4) :255-266

[6] Why do hypertensive patients of African ancestry respond better to calcium blockers and diuretics than to ACE inhibitors and β-adrenergic blockers? A systematic review [J].

Brewster, Lizzy M. ;

Seedat, Yackoob K. .

BMC MEDICINE, 2013, 11

[7] Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].

Burton, Paul R. ;

Clayton, David G. ;

Cardon, Lon R. ;

Craddock, Nick ;

Deloukas, Panos ;

Duncanson, Audrey ;

Kwiatkowski, Dominic P. ;

McCarthy, Mark I. ;

Ouwehand, Willem H. ;

Samani, Nilesh J. ;

Todd, John A. ;

Donnelly, Peter ;

Barrett, Jeffrey C. ;

Davison, Dan ;

Easton, Doug ;

Evans, David ;

Leung, Hin-Tak ;

Marchini, Jonathan L. ;

Morris, Andrew P. ;

Spencer, Chris C. A. ;

Tobin, Martin D. ;

Attwood, Antony P. ;

Boorman, James P. ;

Cant, Barbara ;

Everson, Ursula ;

Hussey, Judith M. ;

Jolley, Jennifer D. ;

Knight, Alexandra S. ;

Koch, Kerstin ;

Meech, Elizabeth ;

Nutland, Sarah ;

Prowse, Christopher V. ;

Stevens, Helen E. ;

Taylor, Niall C. ;

Walters, Graham R. ;

Walker, Neil M. ;

Watkins, Nicholas A. ;

Winzer, Thilo ;

Jones, Richard W. ;

McArdle, Wendy L. ;

Ring, Susan M. ;

Strachan, David P. ;

Pembrey, Marcus ;

Breen, Gerome ;

St Clair, David ;

Caesar, Sian ;

Gordon-Smith, Katherine ;

Jones, Lisa ;

Fraser, Christine ;

Green, Elain K. .

NATURE, 2007, 447 (7145) :661-678

[8] Developing and evaluating polygenic risk prediction models for stratified disease prevention [J].

Chatterjee, Nilanjan ;

Shi, Jianxin ;

Garcia-Closas, Montserrat .

NATURE REVIEWS GENETICS, 2016, 17 (07) :392-406

[9] Physical activity offsets genetic risk for incident depression assessed via electronic health records in a biobank cohort study [J].

Choi, Karmel W. ;

Zheutlin, Amanda B. ;

Karlson, Rebecca A. ;

Wang, Min-Jung ;

Dunn, Erin C. ;

Stein, Murray B. ;

Karlson, Elizabeth W. ;

Smoller, Jordan W. .

DEPRESSION AND ANXIETY, 2020, 37 (02) :106-114

[10] Tutorial: a guide to performing polygenic risk score analyses [J].

Choi, Shing Wan ;

Mak, Timothy Shin-Heng ;

O'Reilly, Paul F. .

NATURE PROTOCOLS, 2020, 15 (09) :2759-2772

← 1 2 3 4 5 6 7 →