Genetic identification of familial hypercholesterolemia within a single U.S. health care system
Abstract
Unleashing the power of precision medicine: Precision medicine promises the ability to identify risks and treat patients on the basis of pathogenic genetic variation. Two studies combined exome sequencing results for over 50,000 people with their electronic health records. Dewey et al. found that ∼3.5% of individuals in their cohort had clinically actionable genetic variants. Many of these variants affected blood lipid levels that could influence cardiovascular health. Abul-Husn et al. extended these findings to investigate the genetics and treatment of familial hypercholesterolemia, a risk factor for cardiovascular disease, within their patient pool. Genetic screening helped identify at-risk patients who could benefit from increased treatment. Science , this issue p. 10.1126/science.aaf6814 , p. 10.1126/science.aaf7000
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The Geisinger validation dataset contains 466 FH cases diagnosed using DLCN criteria, of which 236 were confirmed by genetic testing.
“The data contain 466 FH cases that have been diagnosed using the DLCN criteria,2 of which 236 FH cases were confirmed by genetic testing.”
From Finding missed cases of familial hypercholesterolemia in health systems using machine learning (2019) · cites this paper as [2]
Untreated lifelong elevation of low-density lipoprotein cholesterol in individuals with familial hypercholesterolemia causes up to a 20-fold excess risk of atherosclerotic cardiovascular disease versus those with normal LDL-C levels.
“Lifelong elevation of low-density lipoprotein cholesterol (LDL-C) in individuals with FH cause up to a 20-fold excess risk of atherosclerotic cardiovascular disease (ASCVD) versus those with normal LDL-C levels.2,3”
From Finding missed cases of familial hypercholesterolemia in health systems using machine learning (2019) · cites this paper as [2]
Cascade screening of relatives after identifying an individual with familial hypercholesterolemia is highly cost-effective in reducing excess morbidity in family members.
“In addition, because FH is highly penetrant, once an individual with FH is identified, cascade screening of relatives has been shown to be highly cost-effective in reducing excess morbidity in family members.2,6–8”
From Finding missed cases of familial hypercholesterolemia in health systems using machine learning (2019) · cites this paper as [2]
A familial hypercholesterolemia mutation is present in 0.4% of the population and confers up to 3-fold increased risk for coronary artery disease.
“An important example is the presence of a familial hypercholesterolemia mutation in 0.4% of the population, which confers an up to 3-fold increased risk for coronary artery disease (CAD).6”
From Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations (2018) · cites this paper as [6]
For CAD, the prevalence of >3-fold polygenic risk is 20-fold higher than the carrier frequency of rare monogenic mutations conferring comparable risk.
“Strikingly, the polygenic score identified 20-fold more people than found by familial hypercholesterolemia mutations in previous studies,6,7 at comparable or greater risk.”
From Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations (2018) · cites this paper as [6]
Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607 · see citing works
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895 · see citing works
Cingolani, P., Platts, A., Wang, L. L., Coon, M., Nguyen, T., Wang, L., Land, S. J., Lu, X., & Ruden, D. M. (2012) · Fly · doi:10.4161/fly.19695 · Cited by 11,816 · see citing works
GCTA: a tool for genome-wide complex trait analysis
Yang, J., Lee, S. H., Goddard, M. E., & Visscher, P. M. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.11.011 · Cited by 8,279 · see citing works
Stone, N. J., Robinson, J. G., Lichtenstein, A. H., Bairey Merz, C. N., Blum, C. B., Eckel, R. H., Goldberg, A. C., Gordon, D., Levy, D., Lloyd-Jones, D. M., et al. (2014) · Circulation · doi:10.1161/01.cir.0000437738.63853.7a · Cited by 7,081 · see citing works
Van der Auwera, G. A., Carneiro, M. O., Hartl, C., Poplin, R., del Angel, G., Levy‐Moonshine, A., Jordan, T., Shakir, K., Roazen, D., Thibault, J., et al. (2013) · Current Protocols in Bioinformatics · doi:10.1002/0471250953.bi1110s43 · Cited by 6,687 · see citing works
Stone, N. J., Robinson, J. G., Lichtenstein, A. H., Bairey Merz, C. N., Blum, C. B., Eckel, R. H., Goldberg, A. C., Gordon, D., Levy, D., Lloyd-Jones, D. M., et al. (2014) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2013.11.002 · Cited by 3,845 · see citing works
ESC/EAS Guidelines for the management of dyslipidaemias
Reiner, Ž., Catapano, A. L., De Backer, G., Graham, I., Taskinen, M.-R., Wiklund, O., Agewall, S., Alegria, E., Chapman, M. J., Durrington, P., et al. (2011) · European Heart Journal · doi:10.1093/eurheartj/ehr158 · Cited by 3,549 · see citing works
Biological, clinical and population relevance of 95 loci for blood lipids
Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., Pirruccello, J. P., Ripatti, S., Chasman, D. I., Willer, C. J., et al. (2010) · Nature · doi:10.1038/nature09270 · Cited by 3,527 · see citing works
Self-citationClinVar: public archive of relationships among sequence variation and human phenotype
Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1113 · Cited by 3,516 · see citing works
Nordestgaard, B. G., Chapman, M. J., Humphries, S. E., Ginsberg, H. N., Masana, L., Descamps, O. S., Wiklund, O., Hegele, R. A., Raal, F. J., Defesche, J. C., et al. (2013) · European Heart Journal · doi:10.1093/eurheartj/eht273 · Cited by 2,761 · see citing works
A solution to the problem of separation in logistic regression
Heinze, G., & Schemper, M. (2002) · Statistics in Medicine · doi:10.1002/sim.1047 · Cited by 2,711 · see citing works
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., McGuire, A. L., Nussbaum, R. L., O’Daniel, J. M., Ormond, K. E., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.73 · Cited by 2,544 · see citing works
Goldstein, J. L., Schrott, H. G., Hazzard, W. R., Bierman, E. L., & Motulsky, A. G. (1973) · Journal of Clinical Investigation · doi:10.1172/jci107332 · Cited by 1,442 · see citing works
Higgins (2002) · doi:10.1002/(issn)1097-0258 · Cited by 1,248 · see citing works
Khera, A. V., Won, H.-H., Peloso, G. M., Lawson, K. S., Bartz, T. M., Deng, X., van Leeuwen, E. M., Natarajan, P., Emdin, C. A., Bick, A. G., et al. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.03.520 · Cited by 942 · see citing works
Andermann, A. A. J. (2008) · Bulletin of the World Health Organization · doi:10.2471/blt.07.050112 · Cited by 904 · see citing works
National Lipid Association Recommendations for Patient-Centered Management of Dyslipidemia: Part 2
Jacobson, T. A., Maki, K. C., Orringer, C. E., Jones, P. H., Kris-Etherton, P., Sikand, G., La Forge, R., Daniels, S. R., Wilson, D. P., Morris, P. B., et al. (2015) · Journal of Clinical Lipidology · doi:10.1016/j.jacl.2015.09.002 · Cited by 784 · see citing works
Gidding, S. S., Ann Champagne, M., de Ferranti, S. D., Defesche, J., Ito, M. K., Knowles, J. W., McCrindle, B., Raal, F., Rader, D., Santos, R. D., et al. (2015) · Circulation · doi:10.1161/cir.0000000000000297 · Cited by 723 · see citing works
ESC/EAS Guidelines for the management of dyslipidaemias
Catapano, A. L., Reiner, Ž., De Backer, G., Graham, I., Taskinen, M.-R., Wiklund, O., Agewall, S., Alegria, E., Chapman, M. J., Durrington, P., et al. (2011) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2011.06.028 · Cited by 706 · see citing works
Genetic Causes of Monogenic Heterozygous Familial Hypercholesterolemia: A HuGE Prevalence Review
Austin, M. A. (2004) · American Journal of Epidemiology · doi:10.1093/aje/kwh236 · Cited by 657 · see citing works
Benn, M., Watts, G. F., Tybjaerg-Hansen, A., & Nordestgaard, B. G. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-1563 · Cited by 632 · see citing works
Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients
Goldberg, A. C., Hopkins, P. N., Toth, P. P., Ballantyne, C. M., Rader, D. J., Robinson, J. G., Daniels, S. R., Gidding, S. S., de Ferranti, S. D., Ito, M. K., et al. (2011) · Journal of clinical lipidology · doi:10.1016/j.jacl.2011.03.001 · Cited by 622 · see citing works
Diagnostic Clinical Genome and Exome Sequencing
Biesecker, L. G., & Green, R. (2014) · New England Journal of Medicine · doi:10.1056/nejmra1312543 · Cited by 607 · see citing works
A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia
Marks, D., Thorogood, M., Neil, H. A. W., & Humphries, S. E. (2003) · Atherosclerosis · doi:10.1016/s0021-9150(02)00330-1 · Cited by 569 · see citing works
Williams, R. R., Hunt, S. C., Schumacher, M. C., Hegele, R. A., Leppert, M. F., Ludwig, E. H., & Hopkins, P. N. (1993) · The American Journal of Cardiology · doi:10.1016/0002-9149(93)90155-6 · Cited by 566 · see citing works
The Precision Medicine Initiative
Ashley, E. A. (2015) · JAMA · doi:10.1001/jama.2015.3595 · Cited by 562 · see citing works
Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients
Goldberg, A. C., Hopkins, P. N., Toth, P. P., Ballantyne, C. M., Rader, D. J., Robinson, J. G., Daniels, S. R., Gidding, S. S., de Ferranti, S. D., Ito, M. K., et al. (2011) · Journal of Clinical Lipidology · doi:10.1016/j.jacl.2011.04.003 · Cited by 545 · see citing works
Dewey, F. E., Murray, M. F., Overton, J. D., Habegger, L., Leader, J. B., Fetterolf, S. N., O’Dushlaine, C. T., Hout, C. V. V., Staples, J. C., Gonzaga-Jauregui, C. G., et al. (2016) · Science · doi:10.1126/science.aaf6814 · Cited by 533 · see citing works
Self-citationDiagnostic Clinical Genome and Exome Sequencing
Westerink, J., Visseren, F. L. J., & Spiering, W. (2014) · New England Journal of Medicine · doi:10.1056/nejmc1408914 · Cited by 532 · see citing works
Inactivating Variants in <i>ANGPTL4</i> and Risk of Coronary Artery Disease
Dewey, F. E., Gusarova, V., O’Dushlaine, C., Gottesman, O., Trejos, J., Hunt, C., Van Hout, C. V., Habegger, L., Buckler, D., Lai, K.-M. V., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1510926 · Cited by 497 · see citing works
Self-citationGuidelines for the diagnosis and management of heterozygous familial hypercholesterolemia
Civeira, F. (2004) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2003.11.010 · Cited by 495 · see citing works
Carey, D. J., Fetterolf, S. N., Davis, F. D., Faucett, W. A., Kirchner, H. L., Mirshahi, U. L., Murray, M. F., Smelser, D. T., Gerhard, G. S., & Ledbetter, D. H. (2016) · Genetics in Medicine · doi:10.1038/gim.2015.187 · Cited by 453 · see citing works
Self-citationFleischmann (2008) · doi:10.2471/blt.00.000000 · Cited by 446 · see citing works
Sjouke, B., Kusters, D. M., Kindt, I., Besseling, J., Defesche, J. C., Sijbrands, E. J. G., van Lennep, J. E. R., Stalenhoef, A. F. H., Wiegman, A., Graaf, J. D., et al. (2014) · European Heart Journal · doi:10.1093/eurheartj/ehu058 · Cited by 442 · see citing works
Benn, M., Watts, G. F., Tybjærg‐Hansen, A., & Nordestgaard, B. G. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehw028 · Cited by 400 · see citing works
Raal, F. J., Pilcher, G. J., Panz, V. R., van Deventer, H. E., Brice, B. C., Blom, D. J., & Marais, A. D. (2011) · Circulation · doi:10.1161/circulationaha.111.042523 · Cited by 366 · see citing works
Hopkins, P. N., Toth, P. P., Ballantyne, C. M., & Rader, D. J. (2011) · Journal of clinical lipidology · doi:10.1016/j.jacl.2011.03.452 · Cited by 348 · see citing works
Pijlman, A. H., Huijgen, R., Verhagen, S. N., Imholz, B. P. M., Liem, A. H., Kastelein, J. J. P., Abbink, E. J., Stalenhoef, A. F. H., & Visseren, F. L. J. (2009) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2009.09.014 · Cited by 272 · see citing works
Reid, J. G., Carroll, A. W., Veeraraghavan, N., Dahdouli, M., Sundquist, A., English, A. C., Bainbridge, M. N., White, S. J., Salerno, W. J., Buhay, C., et al. (2014) · BMC Bioinformatics · doi:10.1186/1471-2105-15-30 · Cited by 215 · see citing works
Self-citationNeil, H. A. W. (2000) · BMJ · doi:10.1136/bmj.321.7254.148 · Cited by 186 · see citing works
PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent
Staples, J. C., Qiao, D., Cho, M. H., Silverman, E. K., Nickerson, D. A., & Below, J. E. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.10.005 · Cited by 146 · see citing works
Wonderling, D. E., Umans-Eckenhausen, M. A. W., Marks, D., Defesche, J. C., Kastelein, J. J. P., & Thorogood, M. (2004) · Seminars in Vascular Medicine · doi:10.1055/s-2004-822992 · Cited by 134 · see citing works
Secondary Causes of Dyslipidemia
Vodnala, D., Rubenfire, M., & Brook, R. D. (2012) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2012.04.062 · Cited by 123 · see citing works
Robinson, J. G., & Goldberg, A. C. (2011) · Journal of clinical lipidology · doi:10.1016/j.jacl.2011.03.451 · Cited by 118 · see citing works
A Public Health Perspective on a National Precision Medicine Cohort
Khoury, M. J., & Evans, J. P. (2015) · JAMA · doi:10.1001/jama.2015.3382 · Cited by 91 · see citing works
Shen, H., Damcott, C., Rampersaud, E., Pollin, T. I., Horenstein, R. B., McArdle, P. F., Peyser, P. A., Bielak, L. F., Post, W. S., Chang, Y.-P. C., et al. (2010) · Archives of Internal Medicine · doi:10.1001/archinternmed.2010.384 · Cited by 91 · see citing works
Self-citationPacker, J. S., Maxwell, E. K., O’Dushlaine, C. T., et al. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btv547 · Cited by 88 · see citing works
Self-citationPublic Health Action in Genomics Is Now Needed beyond Newborn Screening
Bowen, M., Kolor, K., Dotson, W. D., et al. (2012) · Public Health Genomics · doi:10.1159/000341889 · Cited by 61 · see citing works
Troeung, L., Arnold-Reed, D. E., Ping‐Delfos, W. C. S., Watts, G. F., Pang, J., Lugonja, M., Bulsara, M. K., Mortley, D., James, M. T., & Brett, T. (2016) · Heart · doi:10.1136/heartjnl-2015-308824 · Cited by 51 · see citing works
Chen, C. X., & Hay, J. W. (2014) · International Journal of Cardiology · doi:10.1016/j.ijcard.2014.12.070 · Cited by 37 · see citing works
Tada, H., Won, H., Melander, O., Yang, J., Peloso, G. M., & Kathiresan, S. (2014) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.113.000420 · Cited by 34 · see citing works
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Van Hout, C. V., Tachmazidou, I., Backman, J. D., Hoffman, J. D., Liu, D., Pandey, A. K., Gonzaga-Jauregui, C., Khalid, S., Ye, B., Banerjee, N., et al. (2020) · Nature · doi:10.1038/s41586-020-2853-0 · Cited by 561 · see citing works
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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
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“Lifelong elevation of low-density lipoprotein cholesterol (LDL-C) in individuals with FH cause up to a 20-fold excess risk of atherosclerotic cardiovascular disease (ASCVD) versus those with normal LDL-C levels.(2,3) Importantly, the risk of ASCVD can be largely ameliorated through early identification and treatment w…”
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- Authors
- Abul-Husn, N. S., Manickam, K., Jones, L. K., Wright, E. A., Hartzel, D. N., Gonzaga-Jauregui, C., O’Dushlaine, C., Leader, J. B., Lester Kirchner, H., Lindbuchler, D. M., Barr, M. L., Giovanni, M. A., Ritchie, M. D., Overton, J. D., Reid, J. G., Metpally, R. P. R., Wardeh, A. H., Borecki, I. B., Yancopoulos, G. D., Baras, A., Shuldiner, A. R., Gottesman, O., Ledbetter, D. H., Carey, D. J., Dewey, F. E., & Murray, M. F.
- Affiliations
- Regeneron Genetics Center, Tarrytown, NY 10591, USA.
- Geisinger Health System (US)
- Regeneron (United States) (US)
- Geisinger Health System, Danville, PA 17822, USA.
- Corresponding author
- Murray, Michael F.
- ORCID
- Manickam, Kandamurugu
- Jones, Laney K.
- Wright, Eric A.
- Hartzel, Dustin N.
- Gonzaga-Jauregui, Claudia
- O’Dushlaine, Colm
- Leader, Joseph B.
- Ritchie, Marylyn D.
- Overton, John D.
- Reid, Jeffrey G.
- Metpally, Raghu P. R.
- Wardeh, Amr H.
- Borecki, Ingrid B.
- Baras, Aris
- Shuldiner, Alan R.
- Ledbetter, David H.
- Carey, David J.
- Murray, Michael F.
- Venue
- Science
- Published
- 2016-12-23
- Volume
- 354
- Issue
- 6319
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2567297878
- Cited by
- 425
- References
- 53
- Citations by year
- 2026: 26 · 2025: 25 · 2024: 31 · 2023: 43 · 2022: 46 · 2021: 58 · 2020: 50 · 2019: 50 · 2018: 51 · 2017: 43 · 2016: 2
- FWCI
- 53.87
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Regeneron Pharmaceuticals
- Topics
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- familial hypercholesterolemia, genetic screening, exome sequencing, electronic health records, coronary artery disease risk, statin therapy, LDL cholesterol, underdiagnosis, genetic variants
- MeSH terms
- Coronary Artery Disease, Delivery of Health Care, Drug Utilization, Coloring Agents, Genetic Testing, Heterozygote, Humans, Hyperlipoproteinemia Type II, Lipoproteins, LDL, United States, Prevalence, Electronic Health Records, Exome
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