 Genetic Testing
"Genetic Testing" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
| Descriptor ID |
D005820
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| MeSH Number(s) |
E01.370.225.562 E05.200.562 E05.393.435 N02.421.308.430 N02.421.726.233.221
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| Concept/Terms |
Testing, Genetic Predisposition- Testing, Genetic Predisposition
- Predisposition Testing, Genetic
- Predictive Testing, Genetic
- Genetic Predictive Testing
- Testing, Genetic Predictive
- Predictive Genetic Testing
- Genetic Testing, Predictive
- Testing, Predictive Genetic
- Genetic Predisposition Testing
Genetic Screening- Genetic Screening
- Genetic Screenings
- Screening, Genetic
- Screenings, Genetic
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Below are MeSH descriptors whose meaning is more general than "Genetic Testing".
Below are MeSH descriptors whose meaning is more specific than "Genetic Testing".
This graph shows the total number of publications written about "Genetic Testing" by people in this website by year, and whether "Genetic Testing" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 3 | 0 | 3 | | 1998 | 0 | 1 | 1 | | 1999 | 1 | 3 | 4 | | 2000 | 2 | 1 | 3 | | 2001 | 1 | 1 | 2 | | 2002 | 1 | 0 | 1 | | 2003 | 4 | 3 | 7 | | 2004 | 3 | 3 | 6 | | 2005 | 6 | 7 | 13 | | 2006 | 1 | 4 | 5 | | 2007 | 5 | 6 | 11 | | 2008 | 5 | 9 | 14 | | 2009 | 4 | 4 | 8 | | 2010 | 1 | 3 | 4 | | 2011 | 4 | 9 | 13 | | 2012 | 4 | 0 | 4 | | 2013 | 8 | 7 | 15 | | 2014 | 5 | 4 | 9 | | 2015 | 10 | 14 | 24 | | 2016 | 7 | 8 | 15 | | 2017 | 5 | 10 | 15 | | 2018 | 13 | 16 | 29 | | 2019 | 8 | 16 | 24 | | 2020 | 1 | 10 | 11 | | 2021 | 8 | 14 | 22 | | 2022 | 3 | 8 | 11 | | 2023 | 1 | 7 | 8 | | 2024 | 1 | 0 | 1 | | 2025 | 1 | 0 | 1 |
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Below are the most recent publications written about "Genetic Testing" by people in Profiles.
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Cole JJ, Williams JP, Sellitto AD, Baratta LR, Huecker JB, Baldridge D, Kannampallil T, Gurnett CA, Balls-Berry JE. Association of Social Determinants of Health With Genetic Test Request and Completion Rates in Children With Neurologic Disorders. Neurology. 2025 Mar 11; 104(5):e210275.
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Srivastava S, Cole JJ, Cohen JS, Chopra M, Smith HS, Deardorff MA, Pedapati E, Corner B, Anixt JS, Jeste S, Sahin M, Gurnett CA, Campbell CA. Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. Ann Neurol. 2024 Nov; 96(5):900-913.
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Gilmore MJ, Knerr S, Kraft SA, Bulkley JE, Biesecker BB, Feigelson HS, Hunter JE, Jenkins CL, Kauffman TL, Lee SS, Liles EG, Mittendorf KF, Muessig KR, Porter KM, Rolf BA, Rope AF, Zepp JM, Anderson KP, Devine B, Joseph G, Leo MC, Goddard K, Wilfond BS. Improving Care for Marginalized Populations at Risk for Hereditary Cancer Syndromes: Innovations that Expanded Reach in the CHARM Study. Public Health Genomics. 2024; 27(1):16-22.
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Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK, Brady L, Hui AY, Andrews JD, Chowdhury A, Wall E, Soubry ?, Ediae GU, Rojas S, Assamad D, Dyment D, Tarnopolsky M, Sawyer SL, Chisholm C, Lemire G, Amburgey K, Lazier J, Mendoza-Londono R, Dowling JJ, Balci TB, Armour CM, Bhola PT, Costain G, Dupuis L, Carter M, Badalato L, Richer J, Boswell-Patterson C, Kannu P, Cordeiro D, Warman-Chardon J, Graham G, Siu VM, Cytrynbaum C, Rusnak A, Aul RB, Yoon G, Gonorazky H, McNiven V, Mercimek-Andrews S, Guerin A, Deshwar AR, Marwaha A, Weksberg R, Karp N, Campbell M, Al-Qattan S, Shuen AY, Inbar-Feigenberg M, Cohn R, Szuto A, Inglese C, Poirier M, Chad L, Potter B, Boycott KM, Hayeems R. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study. Genet Med. 2024 02; 26(2):101012.
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Hunter JE, Riddle L, Joseph G, Amendola LM, Gilmore MJ, Zepp JM, Shuster E, Bulkley JE, Muessig KR, Anderson KP, Goddard KAB, Wilfond BS, Leo MC. Most people share genetic test results with relatives even if the findings are normal: Family communication in a diverse population. Genet Med. 2023 11; 25(11):100923.
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Nelson JA, Knupp KG. Lennox-Gastaut Syndrome: Current Treatments, Novel Therapeutics, and Future Directions. Neurotherapeutics. 2023 09; 20(5):1255-1262.
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Hallquist MLG, Borensztein MJ, Coughlin CR, Buchanan AH, Andrew Faucett W, Peay HL, Smith ME, Tricou EP, Uhlmann WR, Wain KE, Ormond KE. Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists. Eur J Hum Genet. 2023 10; 31(10):1165-1174.
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Crooks KR, Farwell Hagman KD, Mandelker D, Santani A, Schmidt RJ, Temple-Smolkin RL, Lincoln SE. Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic Counselors. J Mol Diagn. 2023 07; 25(7):411-427.
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Brock DC, Abbott M, Reed L, Kammeyer R, Gibbons M, Angione K, Bernard TJ, Gaskell A, Demarest S. Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications. Epilepsy Res. 2023 07; 193:107167.
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Gillman AS, Iles IA, Klein WMP, Biesecker BB, Lewis KL, Biesecker LG, Ferrer RA. Future-oriented Emotions and Decisions to Receive Genomic Testing Results Among U.S. Adults of African Ancestry. Ann Behav Med. 2023 04 22; 57(5):418-423.
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