 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 |
|---|
| 1996 | 1 | 1 | 2 | | 1997 | 3 | 0 | 3 | | 1998 | 0 | 1 | 1 | | 1999 | 1 | 3 | 4 | | 2000 | 5 | 2 | 7 | | 2001 | 3 | 3 | 6 | | 2002 | 3 | 1 | 4 | | 2003 | 4 | 3 | 7 | | 2004 | 3 | 3 | 6 | | 2005 | 8 | 7 | 15 | | 2006 | 2 | 4 | 6 | | 2007 | 4 | 6 | 10 | | 2008 | 5 | 10 | 15 | | 2009 | 4 | 5 | 9 | | 2010 | 1 | 3 | 4 | | 2011 | 3 | 9 | 12 | | 2012 | 4 | 0 | 4 | | 2013 | 9 | 7 | 16 | | 2014 | 5 | 3 | 8 | | 2015 | 10 | 14 | 24 | | 2016 | 8 | 8 | 16 | | 2017 | 6 | 11 | 17 | | 2018 | 14 | 18 | 32 | | 2019 | 10 | 17 | 27 | | 2020 | 1 | 10 | 11 | | 2021 | 11 | 15 | 26 | | 2022 | 3 | 8 | 11 | | 2023 | 1 | 9 | 10 | | 2024 | 7 | 9 | 16 | | 2025 | 7 | 10 | 17 |
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Below are the most recent publications written about "Genetic Testing" by people in Profiles.
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Sherman CA, Nataneli S, Claw KG, Mooney JA. Echoes of eugenics: confronting its effects in indigenous genomics. Genetics. 2025 Oct 08; 231(2).
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Wynn J, Rego S, Chandler-Brown D, Carter R, Talati A, Zaretsky M, Trimble A. Routine cell-free DNA prenatal screening identifies pregnancies at high risk for cystic fibrosis that may benefit from fetal therapy. J Cyst Fibros. 2025 Nov; 24(6):1067-1072.
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Pitsava G, Hawley M, Auriga L, de Dios I, Ko A, Marmolejos S, Almalvez M, Chen I, Scozzaro K, Zhao J, Barrick R, Ah Mew N, Fusaro VA, LoTempio J, Taylor M, Mestroni L, Graw S, Milewicz D, Guo D, Murdock DR, Bujakowska KM, Xiao C, Délot EC, Berger SI, Vilain E. Genome sequencing reveals the impact of pseudoexons in rare genetic disease. Genet Med. 2025 Nov; 27(11):101574.
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Ediae GU, White-Brown A, Chisholm C, Terekhov I, Seymour J, Guo J, Mitsakakis N, Sawyer SL, Boycott KM. ThinkRare: A search algorithm to identify patients with undiagnosed rare genetic disease in an electronic medical record. Genet Med. 2025 Nov; 27(11):101570.
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Stanley KJ, Chisholm C, Gillespie MK, Caluseriu O, Del Signore N, Elango S, Hartley T, Hewson S, Kim RH, McSheffrey G, Mendoza-Londono R, Sawyer SL, Somerville M, Venkataramanan V, White-Brown A, Telesca S, Shickh S, Marshall CR, Ungar WJ, Hayeems RZ, Bhawra J, Boycott KM, Costain G. TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist. BMJ Open. 2025 Aug 10; 15(8):e107603.
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Cuillerier A, Goodman A, Lawrence C, Villeneuve-Cloutier N, Armour CM, Bhola PT, Bourque DK, Carter MT, Lazier J, Sawyer SL, Saleh M, Prasad C, Siu VM, Boycott KM, Hartley T, Dyment DA, Balci TB. Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study. Clin Genet. 2026 Jan; 109(1):40-49.
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Thompson T, Gurfinkel D, Silveira L, Klamut N, Ferdinandsen K, Fu C, Ananth AL, Lane JB, Marsh ED, Neul JL, Percy AK, Benke TA. Medical Biases and Misconceptions Impact Diagnoses in Males With Loss of Function MECP2 Variants. Am J Med Genet A. 2025 Oct; 197(10):e64147.
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Fasaye GA, Calzone K, Travis E, Gallanis AF, Gamble L, Davis JL. Association between proband characteristics and CDH1 cascade genetic testing uptake in at-risk relatives. J Genet Couns. 2025 Jun; 34(3):e70011.
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Mackley MP, Richer J, Guerin A, Caluseriu O, Armstrong L, Blood KA, Bernier F, Boswell-Patterson C, Chard M, Costain G, Dyment D, Eaton A, Faghfoury H, Frosk P, Gillespie MK, Goh ES, Hayeems RZ, Hashemi B, Innes AM, Jackson M, Laberge AM, Limoges J, Marshall C, McMillan H, Nelson TN, Osmond M, Parboosingh J, Penney L, Prince B, Sawyer SL, Siu VM, Thomas MA, Turner L, Villeneuve-Cloutier N, Hartley T, Boycott KM. Mainstreaming of clinical genetic testing: A conceptual framework. Genet Med. 2025 Aug; 27(8):101465.
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Gomez DA, Lee AD, Hammond JB, Palmer SK, French B, Yu JW, Nguyen PD, Mathes DW, Khechoyan DY. Early-Onset Facial Weakness: Evaluation and Surgical Treatment of Facioscapulohumeral Muscular Disease. J Craniofac Surg. 2025 Jul-Aug 01; 36(5):1758-1762.
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