Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association
Abstract
The genetic basis for more than 2 dozen monogenic dyslipidemias has largely been defined. Genetic technologies, such as DNA sequencing, can detect both rare and common DNA variants underlying dyslipidemias, and these methods are increasingly available. Although patients with extreme abnormalities in low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol may be considered for genetic testing, it is only in a minority of patients that the results will alter treatment or outcomes. Currently, there is potential clinical utility of genetic testing for familial hypercholesterolemia, familial chylomicronemia syndrome, sitosterolemia, lysosomal acid lipase deficiency, and a few other rare disorders, and this will increase the demand for reliable genetic diagnostic methods at lower cost. Clinical indications for genetic testing for most dyslipidemias are not clearly established and currently no guidelines exist. A shared decision-making model between the patient and the provider is essential as patient values and preferences play a very strong role. Potential benefits of genetic testing include providing a firm diagnosis in many cases, guiding optimal management and prevention strategies, advancing care strategies beyond currently available treatments, and contributing to overall scientific progress. Understanding the limitations and risks of genetic testing techniques is also important, as is careful interpretation of genetic test results to achieve the greatest benefit. Here we review laboratory methods, as well as technical, biological, clinical, and ethical implications and applications of genetic testing in dyslipidemias.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Familial chylomicronemia syndrome is caused by biallelic loss-of-function variants in LPL or in related genes needed for LPL activity.
“The condition is caused by biallelic loss-of-function variants in LPL (encoding lipoprotein lipase) or in related genes needed for LPL activity. 10-12”
From Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome (2024) · cites this paper as [11]
Loss of LPL activity results in a reduced ability to hydrolyze triglycerides in triglyceride-rich lipoproteins, leading to their accumulation in plasma and subsequent severe hypertriglyceridemia.
“Loss of LPL activity results in a reduced ability to hydrolyze triglycerides in triglyceride-rich lipoproteins, such as intestinally derived chylomicrons and hepatically derived very-low-density lipoproteins, leading to their accumulation in plasma and subsequent severe hypertriglyceridemia. 10-12”
From Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome (2024) · cites this paper as [11]
Cites
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works
Ference, B. A., Ginsberg, H. N., Graham, I., Ray, K. K., Packard, C. J., Bruckert, E., Hegele, R. A., Krauss, R. M., Raal, F. J., Schunkert, H., et al. (2017) · European Heart Journal · doi:10.1093/eurheartj/ehx144 · Cited by 3,962 · see citing works
Self-citationKhera, 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
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
Self-citationKalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C. M., Evans, J. P., Herman, G. E., Hufnagel, S. B., Klein, T. E., Korf, B. R., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.190 · Cited by 1,646 · 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
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
Self-citationRaal, F. J., Honarpour, N., Blom, D. J., Hovingh, G. K., Xu, F., Scott, R. C., Wasserman, S. M., & Stein, E. A. (2014) · The Lancet · doi:10.1016/s0140-6736(14)61374-x · Cited by 733 · see citing works
20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia
Luirink, I. K., Wiegman, A., Kusters, D. M., Hof, M. H. P., Groothoff, J. W., de Groot, E., Kastelein, J. J. P., & Hutten, B. A. (2019) · New England Journal of Medicine · doi:10.1056/nejmoa1816454 · Cited by 655 · see citing works
Clinical Genetic Testing for Familial Hypercholesterolemia
Sturm, A. C., Knowles, J. W., Gidding, S. S., Ahmad, Z., Ahmed, C. D., Ballantyne, C. M., Baum, S. J., Bourbon, M., Carrié, A., Cuchel, M., et al. (2018) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2018.05.044 · Cited by 619 · see citing works
Self-citationTalmud, P. J., Shah, S. H., Whittall, R., Futema, M., Howard, P., Cooper, J. A., Harrison, S. C., Li, K., Drenos, F., Karpe, F., et al. (2013) · The Lancet · doi:10.1016/s0140-6736(12)62127-8 · Cited by 590 · see citing works
Familial hypercholesterolaemia
Defesche, J. C., Gidding, S. S., Harada‐Shiba, M., Hegele, R. A., Santos, R. D., & Wierzbicki, A. S. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.93 · Cited by 540 · see citing works
Self-citationJacobson, T. A., Ito, M. K., Maki, K. C., Orringer, C. E., Bays, H. E., Jones, P. H., McKenney, J. M., Grundy, S. M., Gill, E. A., Wild, R. A., et al. (2014) · Journal of clinical lipidology · doi:10.1016/j.jacl.2014.07.007 · Cited by 464 · see citing works
Self-citationPlasma lipoproteins: genetic influences and clinical implications
Hegele, R. A. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2481 · Cited by 462 · see citing works
Self-citationHayden, E. C. (2014) · Nature · doi:10.1038/507294a · Cited by 409 · see citing works
Watts, G. F., Gidding, S. S., Wierzbicki, A. S., Toth, P. P., Rodrigo Alonso, K., Brown, W. V., Bruckert, É., Defesche, J. C., Lin, K. K., Livingston, M., et al. (2013) · International Journal of Cardiology · doi:10.1016/j.ijcard.2013.11.025 · Cited by 377 · see citing works
The real cost of sequencing: higher than you think!
Sboner, A., Mu, X. J., Greenbaum, D. S., Auerbach, R. K., & Gerstein, M. (2011) · Genome biology · doi:10.1186/gb-2011-12-8-125 · Cited by 373 · see citing works
Uhlmann, W. R., Schuette, J. L., & Yashar, B. M. (1998) · Cited by 359 · see citing works
Chylomicronaemia–current diagnosis and future therapies
Brahm, A. J., & Hegele, R. A. (2015) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2015.26 · Cited by 356 · see citing works
Self-citationHopkins, 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
The complex molecular genetics of familial hypercholesterolaemia
Berberich, A. J., & Hegele, R. A. (2018) · Nature Reviews Cardiology · doi:10.1038/s41569-018-0052-6 · Cited by 298 · see citing works
Self-citationFurther Evolution of the ACC/AHA Clinical Practice Guideline Recommendation Classification System
Halperin, J. L., Levine, G. N., Al‐Khatib, S. M., Birtcher, K. K., Bozkurt, B., Brindis, R. G., Cigarroa, J. E., Curtis, L. H., Fleisher, L. A., Gentile, F., et al. (2015) · Circulation · doi:10.1161/cir.0000000000000312 · Cited by 293 · see citing works
Tandy-Connor, S., Guiltinan, J., Krempely, K., LaDuca, H., Reineke, P., Gutierrez, S., Gray, P., & Tippin Davis, B. (2018) · Genetics in Medicine · doi:10.1038/gim.2018.38 · Cited by 273 · cited 2× · see citing works
“This can result in false positive or negative results.(39) Criteria for clinical validity of genetic diagnostic tests are not fully established, and testing is not currently regulated.”
BackgroundPsychosocial Genetic Counseling
Weil, J. (2000) · doi:10.1093/oso/9780195120660.001.0001 · Cited by 236 · see citing works
Severe hypertriglyceridemia is primarily polygenic
Dron, J. S., Wang, J., Cao, H., McIntyre, A. D., Iacocca, M. A., Menard, J. R., Movsesyan, I., Malloy, M. J., Pullinger, C. R., Kane, J. P., et al. (2019) · Journal of Clinical Lipidology · doi:10.1016/j.jacl.2018.10.006 · Cited by 222 · see citing works
Self-citationFutema, M., Shah, S., Cooper, J. A., Li, K., Whittall, R. A., Sharifi, M., Goldberg, O., Drogari, E., Mollaki, V., Wiegman, A., et al. (2015) · Clinical Chemistry · doi:10.1373/clinchem.2014.231365 · Cited by 213 · see citing works
Self-citationPolygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically
Wang, J., Dron, J. S., Ban, M. R., Robinson, J. F., McIntyre, A. D., Alazzam, M., Zhao, P., Dilliott, A. A., Cao, H., Huff, M. W., et al. (2016) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.116.308027 · Cited by 210 · see citing works
Self-citationHegele, R. A., Borén, J., Ginsberg, H. N., Arca, M., Averna, M., Binder, C. J., Calabresi, L., Chapman, M. J., Cuchel, M., von Eckardstein, A., et al. (2020) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(19)30264-5 · Cited by 204 · see citing works
Self-citationFurther Evolution of the ACC/AHA Clinical Practice Guideline Recommendation Classification System
Halperin, J. L., Levine, G. N., Al-Khatib, S. M., Birtcher, K. K., Bozkurt, B., Brindis, R. G., Cigarroa, J. E., Curtis, L. H., Fleisher, L. A., Gentile, F., et al. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2015.09.001 · Cited by 191 · see citing works
Gibson, C. M., Korjian, S., Tricoci, P., Daaboul, Y., Yee, M., Jain, P., Alexander, J. H., Steg, P. G., Lincoff, A. M., Kastelein, J. J. P., et al. (2016) · Circulation · doi:10.1161/circulationaha.116.025687 · Cited by 190 · see citing works
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)
Salen, G., & Steiner, R. D. (2017) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-017-0093-8 · Cited by 185 · see citing works
Lipid-Lowering Agents: Targets Beyond PCSK9
Hegele, R. A., & Tsimikas, S. (2019) · Circulation Research · doi:10.1161/circresaha.118.313171 · Cited by 171 · see citing works
Self-citationTrinder, M., Li, X., DeCastro, M. L., Cermakova, L., Sadananda, S., Jackson, L. M., Azizi, H., Mancini, G. B. J., Francis, G. A., Frohlich, J. J., et al. (2019) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2019.05.043 · Cited by 158 · see citing works
ASHG Statement* on Direct-to-Consumer Genetic Testing in the United States
Hudson, K., Javitt, G. H., Burke, W., & Byers, P. H. (2007) · Obstetrics and Gynecology · doi:10.1097/01.aog.0000292086.98514.8b · Cited by 156 · see citing works
GINA, Genetic Discrimination, and Genomic Medicine
Green, R. C., Lautenbach, D. M., & McGuire, A. L. (2015) · New England Journal of Medicine · doi:10.1056/nejmp1404776 · Cited by 151 · see citing works
Chait, A., & Eckel, R. H. (2019) · Annals of Internal Medicine · doi:10.7326/m19-0203 · Cited by 128 · see citing works
The emerging role of the cardiac genetic counselor
Ingles, J., Yeates, L., & Semsarian, C. (2011) · Heart Rhythm · doi:10.1016/j.hrthm.2011.07.017 · Cited by 126 · see citing works
Paquette, M., Bernard, S., Hegele, R. A., & Baass, A. W. (2018) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2018.12.019 · Cited by 117 · see citing works
Self-citationClinVar database of global familial hypercholesterolemia‐associated DNA variants
Iacocca, M. A., Chora, J. R., Carrié, A., Freiberger, T., Leigh, S. E. A., Defesche, J. C., Kurtz, C. L., DiStefano, M. T., Santos, R. D., Humphries, S. E., et al. (2018) · Human Mutation · doi:10.1002/humu.23634 · Cited by 115 · see citing works
Self-citationRole of Genetic Testing in Inherited Cardiovascular Disease
Cirino, A. L., Harris, S. L., Lakdawala, N. K., et al. (2017) · JAMA Cardiology · doi:10.1001/jamacardio.2017.2352 · Cited by 106 · see citing works
Shamburek, R. D., Bakker‐Arkema, R., Auerbach, B. J., et al. (2015) · Journal of clinical lipidology · doi:10.1016/j.jacl.2015.12.007 · Cited by 97 · see citing works
Deletion of GPIHBP1 causing severe chylomicronemia
Rios, J. J., Shastry, S., Jasso, J. H. T., Hauser, N., Garg, A., Bensadoun, A., Cohen, J. C., & Hobbs, H. H. (2011) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-011-9406-5 · Cited by 89 · see citing works
Dron, J. S., Wang, J., McIntyre, A. D., Iacocca, M. A., Robinson, J. F., Ban, M. R., Cao, H., & Hegele, R. A. (2020) · BMC Medical Genomics · doi:10.1186/s12920-020-0669-2 · Cited by 89 · see citing works
Self-citationDiagnosis and treatment of high density lipoprotein deficiency
Schaefer, E. J., Anthanont, P., Diffenderfer, M. R., Polisecki, E. Y., & Asztalos, B. F. (2016) · Progress in Cardiovascular Diseases · doi:10.1016/j.pcad.2016.08.006 · Cited by 88 · see citing works
Family letters are an effective way to inform relatives about inherited cardiac disease
van der Roest, W. P., Pennings, J. M., Bakker, M. K., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32672 · Cited by 86 · see citing works
Pontone, G., Andreini, D., Guglielmo, M., Rota, C., Mushtaq, S., Baggiano, A., Beltrama, V., Solbiati, A., Guaricci, A. I., & Pepi, M. (2016) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(16)31573-x · Cited by 85 · see citing works
Polygenic influences on dyslipidemias
Dron, J. S., & Hegele, R. A. (2018) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000482 · Cited by 72 · see citing works
Self-citationPsychosocial aspects of genetic testing
Cameron, L. D., & Muller, C. (2009) · Current Opinion in Psychiatry · doi:10.1097/yco.0b013e3283252d80 · Cited by 68 · see citing works
The role of genetic testing in dyslipidaemia
Berberich, A. J., & Hegele, R. A. (2018) · Pathology · doi:10.1016/j.pathol.2018.10.014 · Cited by 66 · see citing works
Self-citationGenetic and secondary causes of severe HDL deficiency and cardiovascular disease1
Geller, A. S., Polisecki, E., Diffenderfer, M. R., Asztalos, B., Karathanasis, S., Hegele, R., & Schaefer, E. (2018) · Journal of Lipid Research · doi:10.1194/jlr.m088203 · Cited by 65 · see citing works
Self-citationPolygenic determinants in extremes of high-density lipoprotein cholesterol
Dron, J. S., Wang, J., Low‐Kam, C., Khetarpal, S. A., Robinson, J. F., McIntyre, A. D., Ban, M. R., Cao, H., Rhainds, D., Dubé, M., et al. (2017) · Journal of Lipid Research · doi:10.1194/jlr.m079822 · Cited by 63 · see citing works
Self-citationLDL-receptor mutations in Europe
Dedoussis, G. V., Schmidt, H., & Büttner, J. (2004) · Human Mutation · doi:10.1002/humu.20105 · Cited by 59 · see citing works
The evolution of genetic-based risk scores for lipids and cardiovascular disease
Dron, J. S., & Hegele, R. A. (2019) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000576 · Cited by 58 · see citing works
Self-citationNiehaus, A., Azzariti, D. R., Harrison, S. M., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-018-0432-7 · Cited by 54 · see citing works
Incidental findings of uncertain significance: To know or not to know - that is not the question
Hofmann, B. (2016) · BMC Medical Ethics · doi:10.1186/s12910-016-0096-2 · Cited by 52 · see citing works
Dilliott, A. A., Farhan, S. M. K., Ghani, M., Sato, C., Liang, E., Zhang, M., McIntyre, A. D., Cao, H., Racacho, L., Robinson, J. F., et al. (2018) · Journal of Visualized Experiments · doi:10.3791/57266 · Cited by 43 · see citing works
Self-citationHoudayer, F., Putois, O., Babonneau, M.-L., et al. (2019) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2019.103711 · Cited by 42 · see citing works
Genetic testing in cardiovascular medicine
Sturm, A. C., & Hershberger, R. E. (2013) · Current Opinion in Cardiology · doi:10.1097/hco.0b013e32835fb728 · Cited by 41 · see citing works
Self-citationRole of DNA copy number variation in dyslipidemias
Iacocca, M. A., & Hegele, R. A. (2018) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000483 · Cited by 39 · see citing works
Self-citationThe biochemical and genetic diagnosis of lipid disorders
Schaefer, E. J., Geller, A. S., & Endress, G. A. (2019) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000590 · Cited by 37 · see citing works
MARAIS, D. P. (2015) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000192 · Cited by 33 · see citing works
Sitosterolemia: A multifaceted metabolic disorder with important clinical consequences
Tzavella, E., Hatzimichael, E. C., Kostara, C. E., Bairaktari, E. T., Elisaf, M., & Tsimihodimos, V. (2017) · Journal of clinical lipidology · doi:10.1016/j.jacl.2017.04.116 · Cited by 33 · see citing works
Garg, A., Garg, V., Hegele, R. A., & Lewis, G. F. (2019) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(19)30156-1 · Cited by 24 · see citing works
Self-citationFamiglietti, M. L., Estreicher, A., Breuza, L., Poux, S., Redaschi, N., Xénarios, I., & Bridge, A. J. (2019) · Database · doi:10.1093/database/baz040 · Cited by 21 · see citing works
Polygenic Risk for Hypertriglyceridemia Can Mimic a Major Monogenic Mutation
Stahel, P., Xiao, C., Hegele, R. A., & Lewis, G. F. (2017) · Annals of Internal Medicine · doi:10.7326/l17-0182 · Cited by 20 · see citing works
Self-citationSecondary findings: How did we get here, and where are we going?
Ormond, K., O'Daniel, J. M., & Kalia, S. S. (2019) · Journal of Genetic Counseling · doi:10.1002/jgc4.1098 · Cited by 20 · see citing works
Dilliott, A. A., Farhan, S. M. K., Ghani, M., et al. (2018) · Journal of Visualized Experiments · doi:10.3791/57266-v · Cited by 15 · see citing works
The Role of Genetic Counselors for Patients with Familial Hypercholesterolemia
Sturm, A. C. (2014) · Current Genetic Medicine Reports · doi:10.1007/s40142-014-0036-8 · Cited by 13 · see citing works
Self-citationEditorial: designing targeted sequencing panels for dyslipidemia
Hegele, R. A. (2019) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000579 · Cited by 10 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome
Stroes, E. S. G., Alexander, V. J., Karwatowska-Prokopczuk, E., Hegele, R. A., Arca, M., Ballantyne, C. M., Soran, H., Prohaska, T. A., Xia, S., Ginsberg, H. N., et al. (2024) · New England Journal of Medicine · doi:10.1056/nejmoa2400201 · Cited by 271 · see citing works
Self-citationPlozasiran for Managing Persistent Chylomicronemia and Pancreatitis Risk
Watts, G. F., Rosenson, R. S., Hegele, R. A., Goldberg, I. J., Gallo, A., Mertens, A., Baass, A., Zhou, R., Muhsin, M., Hellawell, J., et al. (2025) · New England Journal of Medicine · doi:10.1056/nejmoa2409368 · Cited by 178 · see citing works
Self-citationAdvances in treatment of Dyslipidemia
Dybiec, J., Baran, W., Dąbek, B., Fularski, P., Młynarska, E., Radzioch, E., Rysz, J., & Franczyk, B. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241713288 · Cited by 55 · see citing works
- Authors
- Brown, E. E., Sturm, A. C., Cuchel, M., Braun, L. T., Duell, P. B., Underberg, J. A., Jacobson, T. A., & Hegele, R. A.
- Affiliations
- Johns Hopkins University (US)
- Geisinger Health System (US)
- University of Pennsylvania (US)
- Rush University (US)
- Oregon Health & Science University (US)
- NYU Langone Health (US)
- Emory University (US)
- Western University (CA)
- Corresponding author
- Hegele, Robert A.
- ORCID
- Venue
- Journal of Clinical Lipidology
- Publisher
- Elsevier BV
- Published
- 2020-07
- Volume
- 14
- Issue
- 4
- Pages
- 398-413
- ISSN
- 1876-4789 (ISSN-L)
- 1933-2874
- OpenAlex
- W3021549637
- Cited by
- 148
- References
- 69
- Citations by year
- 2026: 20 · 2025: 23 · 2024: 21 · 2023: 30 · 2022: 22 · 2021: 25 · 2020: 6 · 2019: 1
- FWCI
- 23.99
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of clinical lipidology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Heart and Stroke Foundation of Canada (G-18-0022147)
- Regeneron Pharmaceuticals
- Canadian Institutes of Health Research
- Topics
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- genetic testing, dyslipidemia, familial hypercholesterolemia, familial chylomicronemia syndrome, sitosterolemia, lysosomal acid lipase deficiency, LDL cholesterol, triglycerides, HDL cholesterol, shared decision-making, genetic test result interpretation, genetic counseling, DNA sequencing
- MeSH terms
- Decision Making, Genetic Testing, Humans, Risk, Societies, Scientific, Dyslipidemias
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
