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 248 publications over 28 distinct years, with a maximum of 20 publications in 2013 and 2018 and 2020

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

Year	Major Topic	Minor Topic	Total
1997	1	1	2
1998	1	2	3
1999	2	0	2
2001	1	1	2
2002	0	3	3
2003	2	0	2
2004	3	5	8
2005	1	1	2
2006	3	4	7
2007	1	1	2
2008	2	2	4
2009	2	1	3
2010	3	8	11
2011	0	4	4
2012	7	3	10
2013	11	9	20
2014	10	6	16
2015	4	4	8
2016	4	10	14
2017	7	8	15
2018	11	9	20
2019	4	7	11
2020	5	15	20
2021	7	4	11
2022	2	15	17
2023	4	11	15
2024	5	8	13
2025	1	2	3

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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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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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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Shore N, Pieczonka C, Heron S, Gazi M, Cahn D, Belkoff LH, Berger A, Mazzarella B, Veys J, Idom C, Morris D, Jayram G, Engelman A, Dato P, Bevan-Thomas R, Wise DR, Hardwick MK, Rojahn S, Layman P, Heald B, Ellsworth RE, Hatchell KE, Nussbaum RL, Nielsen SM, Esplin ED. Clinician-Reported Management Recommendations in Response to Universal Germline Genetic Testing in Patients With Prostate Cancer. J Urol. 2024 12; 212(6):832-843.

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Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. The impact of clinical genome sequencing in a global population with suspected rare genetic disease. Am J Hum Genet. 2024 07 11; 111(7):1271-1281.

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Pitiyarachchi O, Ansell PJ, Coleman RL, Dinh MH, Holman L, Leath CA, Werner T, DiSilvestro P, Morgan M, Tew W, Lee C, Cunningham M, Newton M, Edraki B, Lim P, Barlin J, Spirtos NM, Tewari KS, Edelson M, Reid T, Carlson J, Friedlander M. Homologous recombination deficiency should be tested for in patients with advanced stage high-grade serous ovarian cancer aged 70?years and over. Gynecol Oncol. 2024 08; 187:221-226.

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Raygada M, John L, Liu A, Schultz J, Thomas BJ, Bernstein D, Miettinen M, Raffeld M, Xi L, Tyagi M, Aldape K, Glod J, Reilly KM, Widemann BC, Wedekind MF. Germline findings in cancer predisposing genes from a small cohort of chordoma patients. J Cancer Res Clin Oncol. 2024 May 03; 150(5):227.

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