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 | 6 | 7 | 13 | | 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 | 9 | 17 | | 2017 | 6 | 11 | 17 | | 2018 | 14 | 18 | 32 | | 2019 | 9 | 17 | 26 | | 2020 | 1 | 11 | 12 | | 2021 | 11 | 15 | 26 | | 2022 | 3 | 8 | 11 | | 2023 | 1 | 8 | 9 | | 2024 | 7 | 9 | 16 | | 2025 | 6 | 6 | 12 |
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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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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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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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Cobry EC, Steck AK. Review of Monogenic Diabetes: Clinical Features and Precision Medicine in Genetic Forms of Diabetes. Diabetes Technol Ther. 2025 Sep; 27(9):675-686.
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Voss LA, Nevel RJ, Wambach JA, Nogee LM, Deterding RR, Casey AM, O'Connor MG, Craven DI, Taylor JB, Deutsch GH, Tam-Williams JB, Steffes LC, Brennan SK, Santiago MT, Sadreameli SC, Heras AF, Powers MR, Popova AP, Bansal M, Hamvas A, Gower WA, Urrego F, Young LR. Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases. Pediatr Pulmonol. 2025 Apr; 60(4):e71073.
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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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Moen EV, Prior TS, Kreuter M, Wuyts WA, Molina-Molina M, Wijsenbeek M, Morais A, Tzouvelekis A, Ryerson CJ, Caro F, Buendia-Roldan I, Magnusson JM, Lee JS, Morisett J, Oldham JM, Troy LK, Funke-Chambour M, Alberti ML, Borie R, Walsh SLF, Rajan S, Kondoh Y, Khor YH, Bendstrup E. Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey. BMC Pulm Med. 2025 Feb 03; 25(1):59.
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