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 394 publications over 29 distinct years, with a maximum of 31 publications in 2013

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

Year	Major Topic	Minor Topic	Total
1997	1	1	2
1998	1	3	4
1999	4	0	4
2000	0	1	1
2001	0	1	1
2002	1	4	5
2003	3	0	3
2004	4	6	10
2005	4	2	6
2006	5	4	9
2007	1	3	4
2008	4	4	8
2009	5	3	8
2010	6	9	15
2011	4	7	11
2012	7	4	11
2013	16	15	31
2014	13	9	22
2015	10	10	20
2016	5	17	22
2017	12	11	23
2018	17	9	26
2019	12	13	25
2020	8	18	26
2021	13	11	24
2022	4	22	26
2023	4	16	20
2024	11	12	23
2025	2	2	4

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

Karavite D, Terek S, Connolly JJ, Harr M, Muthu N, Hakonarson H, Grundmeier RW. A Comprehensive Approach to Clinical Decision Support in the Return of Genome Informed Risk Assessments to Primary Care Pediatricians. Appl Clin Inform. 2025 01; 16(1):193-204.

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Shore N, Armstrong AJ, Barata P, Byrne L, Hafron J, Young S, Paller C, Wise DR, Ventii K, Samadi A, Arangua P, Werahera PN, Lorentz J. Implementing and Optimizing Universal Germline Genetic Testing for Patients With Prostate Cancer in Clinical Practice. Urology. 2025 05; 199:1-10.

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August AH, Cernichiaro-Espinosa LA, Moctezuma-Davila M, Wibbelsman TD, Wilson MW, Ch?vez-Barrios P, Shields CL, Lally SE, Eberhart CG, Orr BA, Simpson E, Eagle RC, Milman T. Ciliary Body Medulloepithelioma: Clinical and Pathologic Challenges with a Focus on Molecular Genetics. Semin Ophthalmol. 2025 Aug; 40(6):518-528.

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Yu EY, Rumble RB, Agarwal N, Cheng HH, Eggener SE, Bitting RL, Beltran H, Giri VN, Spratt D, Mahal B, Lu K, Crispino T, Trabulsi EJ. Germline and Somatic Genomic Testing for Metastatic Prostate Cancer: ASCO Guideline. J Clin Oncol. 2025 02 20; 43(6):748-758.

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Shore N, Nielsen SM, Esplin ED, Antonarakis ES, Barata PC, Beer TM, Beltran H, Bryce A, Cookson MS, Crawford ED, Dorff TB, George DJ, Heath EI, Helfand BT, Hussain M, Mckay RR, Morgans AK, Morris MJ, Paller CJ, Ross AE, Sartor O, Shen J, Sieber P, Smith MR, Wise DR, Armstrong AJ. Implementation of Universal Germline Genetic Testing Into Standard of Care for Patients With Prostate Cancer: The Time Is Now. JCO Oncol Pract. 2025 Jun; 21(6):747-753.

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Shakroo YM, Seabury CA, Iczkowski KA, Nelson K, Qian J, Ramnani DM. Germline pathogenic variants in prostate cancer. Pathol Res Pract. 2024 Dec; 264:155718.

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Leader AE, Rebbeck TR, Oh WK, Patel AV, Winer EP, Bailey LO, Gomella LG, Lumpkins CY, Garraway IP, Aiello LB, Baskin ML, Cheng HH, Cooney KA, Ganzak A, George DJ, Halabi S, Hathaway F, Healy C, Kim JW, Leapman MS, Loeb S, Maxwell KN, McNair C, Morgan TM, Prindeville B, Soule HR, Steward WL, Suttiratana SC, Taplin ME, Yamoah K, Fortune T, Bennett K, Blanding-Godbolt J, Gross L, Giri VN. Adaptation of the socioecological model to address disparities in engagement of Black men in prostate cancer genetic testing. BMC Public Health. 2024 09 18; 24(1):2533.

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Brody JR, Klein AP. The Pivotal Role of Germline BRCA2 Pathogenic Variants in "Apparently Sporadic" Pancreatic Cancer. Cancer Res. 2024 09 16; 84(18):2941-2943.

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Volovsky M, Scott RT, Seli E. Non-invasive preimplantation genetic testing for aneuploidy: is the promise real? Hum Reprod. 2024 09 01; 39(9):1899-1908.

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Cheng HH, Shevach JW, Castro E, Couch FJ, Domchek SM, Eeles RA, Giri VN, Hall MJ, King MC, Lin DW, Loeb S, Morgan TM, Offit K, Pritchard CC, Schaeffer EM, Szymaniak BM, Vassy JL, Katona BW, Maxwell KN. BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients: A Review. JAMA Oncol. 2024 Sep 01; 10(9):1272-1281.

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