 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 | 2 | 2 | 4 | | 2001 | 3 | 2 | 5 | | 2002 | 2 | 1 | 3 | | 2003 | 4 | 3 | 7 | | 2004 | 3 | 3 | 6 | | 2005 | 6 | 7 | 13 | | 2006 | 1 | 4 | 5 | | 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 | 4 | 9 | | 2015 | 10 | 14 | 24 | | 2016 | 8 | 8 | 16 | | 2017 | 6 | 10 | 16 | | 2018 | 14 | 18 | 32 | | 2019 | 8 | 17 | 25 | | 2020 | 1 | 10 | 11 | | 2021 | 9 | 15 | 24 | | 2022 | 3 | 8 | 11 | | 2023 | 1 | 7 | 8 | | 2024 | 8 | 9 | 17 | | 2025 | 3 | 2 | 5 |
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Below are the most recent publications written about "Genetic Testing" by people in Profiles.
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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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Ho TT, Smith DM, Aquilante CL, Cicali EJ, El Rouby N, Hertz DL, Imanirad I, Patel JN, Scott SA, Swain SM, Tuteja S, Hicks JK. A Guide for Implementing DPYD Genotyping for Systemic Fluoropyrimidines into Clinical Practice. Clin Pharmacol Ther. 2025 May; 117(5):1194-1208.
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Johnson M, Mehrotra S. Mucoepidermoid carcinoma lacking squamous component arising in rare location: utility of MAML2 genetic testing for diagnosis. BMJ Case Rep. 2025 Jan 21; 18(1).
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Jacoby E, Quan D, Todd E, Shortt J, Smith H, Rafaels N, Crooks K. Prevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain Region. Muscle Nerve. 2025 Feb; 71(2):252-256.
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Hodan R, Gupta S, Weiss JM, Axell L, Burke CA, Chen LM, Chung DC, Clayback KM, Felder S, Foda Z, Giardiello FM, Grady W, Gustafson S, Hagemann A, Hall MJ, Hampel H, Idos G, Joseph N, Kassem N, Katona B, Kelly K, Kieber-Emmons A, Kupfer S, Lang K, Llor X, Markowitz AJ, Prats MM, Niell-Swiller M, Outlaw D, Pirzadeh-Miller S, Samadder NJ, Shibata D, Stanich PP, Swanson BJ, Szymaniak BM, Welborn J, Wiesner GL, Yurgelun MB, Dwyer M, Darlow S, Diwan Z. Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric, Version 3.2024, NCCN Clinical Practice Guidelines In Oncology. J Natl Compr Canc Netw. 2024 12; 22(10):695-711.
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Freeland J, Mu?oz M, O'Donnell E, Langerman J, Darrow M, Bergonio J, Suarez-Navarro J, Thorpe S, Canter R, Randall RL, Plath K, Carraway KL, Witte ON, Graeber TG, Carr-Ascher JR. Genetic Screen in a Preclinical Model of Sarcoma Development Defines Drivers and Therapeutic Vulnerabilities. Clin Cancer Res. 2024 Nov 01; 30(21):4957-4973.
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Gold NB, Omorodion JO, Del Rosario MC, Rivera-Cruz G, Hsu CY, Ziniel SI, Holm IA. Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns. J Genet Couns. 2025 Apr; 34(2):e1994.
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MacFarland SP, Becktell K, Schneider KW, Kuiper RP, Lesmana H, Meade J, Nichols KE, Porter CC, Savage SA, Schultz KA, Scott H, States L, Tabori U, Tamura C, Tomlinson G, Zelley K, Durno C, Bauer A, Plon SE. Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group. Clin Cancer Res. 2024 Oct 15; 30(20):4566-4571.
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