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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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
MeSH Number(s)	E01.370.225.562 E05.200.562 E05.393.435 N02.421.308.430 N02.421.726.233.221
Concept/Terms	Genetic Testing Genetic Testing Testing, Genetic 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

Below are MeSH descriptors whose meaning is more general than "Genetic Testing".

Analytical, Diagnostic and Therapeutic Techniques and Equipment [E]
Diagnosis [E01]
Diagnostic Techniques and Procedures [E01.370]
Clinical Laboratory Techniques [E01.370.225]
Genetic Testing [E01.370.225.562]
Investigative Techniques [E05]
Clinical Laboratory Techniques [E05.200]
Genetic Testing [E05.200.562]
Genetic Techniques [E05.393]
Genetic Testing [E05.393.435]
Health Care [N]
Health Care Facilities, Manpower, and Services [N02]
Health Services [N02.421]
Genetic Services [N02.421.308]
Genetic Testing [N02.421.308.430]
Preventive Health Services [N02.421.726]
Diagnostic Services [N02.421.726.233]
Genetic Testing [N02.421.726.233.221]

Below are MeSH descriptors whose meaning is related to "Genetic Testing".

Below are MeSH descriptors whose meaning is more specific than "Genetic Testing".

publications

Timeline | Most Recent

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.

Bar chart showing 78 publications over 22 distinct years, with a maximum of 9 publications in 2019

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2003	0	2	2
2004	2	1	3
2005	0	2	2
2006	1	0	1
2007	1	1	2
2009	2	0	2
2010	1	2	3
2011	4	3	7
2012	1	0	1
2013	1	2	3
2014	1	1	2
2015	1	2	3
2016	1	1	2
2017	1	2	3
2018	3	3	6
2019	6	3	9
2020	2	5	7
2021	1	2	3
2022	0	5	5
2023	0	2	2
2024	1	3	4
2025	5	1	6

Below are the most recent publications written about "Genetic Testing" by people in Profiles.

Schindewolf E, Kilich G, Westerfer D, Vandergrift D, Rajagopalan R, Sullivan KE. Mastering genetics for your clinic: A step-by-step guide. J Allergy Clin Immunol. 2025 Nov; 156(5):1125-1132.

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Yu JH, MacDuffie KE, Sommerland O, Theoryn T, Murali P, Anderson K, Sikes M, Kruidenier L, Gildersleeve HIS, Scott A, Buckingham KJ, McWalter K, Kruszka P, Keefe AC, Chong JX, Veenstra DL, Dipple KM, Wenger T, Doherty D, Bamshad MJ. Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis. HGG Adv. 2025 Oct 09; 6(4):100464.

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Pressly MA, Schuck R, Mummaneni P, Roman YM, Pacanowski M. Utilization of polygenic risk scores in drug development protocols. Pharmacogenomics. 2025 Feb-Mar; 26(3-4):75-79.

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Goldsbury DE, Kang YJ, Tang C, Tanha HM, Smit AK, Dunlop KLA, Petelin L, Ngo P, Hui H, Meagher NS, Merritt MA, Weber M, DeFazio A, Cust AE, Canfell K, Steinberg J. Sociodemographic and health factors associated with genetic testing in Australia: insights from a cohort-based study of 45,061 participants. Eur J Hum Genet. 2025 Jun; 33(6):819-824.

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Wenger TL, Scott A, Kruidenier L, Sikes M, Keefe A, Buckingham KJ, Marvin CT, Shively KM, Bacus T, Sommerland OM, Anderson K, Gildersleeve H, Davis CJ, Love-Nichols J, MacDuffie KE, Miller DE, Yu JH, Snook A, Johnson B, Veenstra DL, Parish-Morris J, McWalter K, Retterer K, Copenheaver D, Friedman B, Juusola J, Ryan E, Varga R, Doherty DA, Dipple K, Chong JX, Kruszka P, Bamshad MJ. SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns. Am J Hum Genet. 2025 Mar 06; 112(3):508-522.

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Campos-Segura AV, Alvarez K, Murillo Carrasco AG, Rossi BM, Bohorquez M, Spirandelli F, Benavides C, Balto A, Della Valle A, Bruno LI, Lopez-Kostner F, Cruz-Correa M, Del Monte JS, Rugeles J, Ramirez JM, Nascimento I, Forones NM, Cock-Rada AM, Reyes-Silva C, Avila S, Apolinario L, Rossi NT, Martin C, Sulcahuaman Y, Vaccaro CA, Castro-Mujica MDC, Mu?eton Pe?a CM, Assis RB, Silveira-Lucas E, Badir C, Velez-Bohorquez D, Boggio G, Spirandelli E, Neffa F, Esperon P, Carusso F, Vergara C, Amat M, Pombo MT, Noro L, De la Fuente M, Canales T, Cassana A, Carrasco-Avino G, P?rez-Mayoral J, Gonzalez Pons M, Hern?ndez Guerrero A, Vidal Mill?n S, Furfuro SB, Machado Lopes TMB, Bomfim Palma TF, Freitas JC, Toralles MBP, Melo TCF, Pimenta CAM, Palacios Fuenmayor LJ, Galvez-Salazar G, Jaramillo-Koupermann G, Torres M, Pavicic WH, Herrando IA, Santino JP, Ferro FA, Ayala CA, Louro LD, Conedera S, Kristensen V, Torrezan GT, Dominguez-Barrera C, Ayala Madrigal ML, Gutierrez M, Wernhoff P, Hovig E, Plazzer JP, M?ller P, Balavarca Y, Dominguez-Valentin M. Characterization of Screening Strategies for Lynch Syndrome in Latin America. Clin Gastroenterol Hepatol. 2025 Aug; 23(9):1642-1654.

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Petkov VI, Byun JS, Ward KC, Schussler NC, Archer NP, Bentler S, Doherty JA, Durbin EB, Gershman ST, Cheng I, Insaf T, Gonsalves L, Hernandez BY, Koch L, Liu L, Monnereau A, Morawski BM, Schwartz SM, Stroup A, Wiggins C, Wu XC, Bonds S, Negoita S, Penberthy L. Reporting tumor genomic test results to SEER registries via linkages. J Natl Cancer Inst Monogr. 2024 Aug 01; 2024(65):168-179.

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Serrano-Gonz?lez J, Montes-Rodr?guez I, Renta JY, Rojas R, Cadilla CL. After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report. Mol Genet Genomic Med. 2024 Jul; 12(7):e2493.

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Kilich G, Patel S, Hassey K, Weinberger T, Sullivan KE. Pitfalls of genetic testing in a patient with IKBKG deficiency. Ann Allergy Asthma Immunol. 2024 Oct; 133(4):481-483.

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Yamasato K, Ono A. Association between aneuploidy screening analytes and adverse outcomes in twin gestations. J Perinat Med. 2024 Jul 26; 52(6):586-590.

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