Genetic Testing

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"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 118 publications over 29 distinct years, with a maximum of 10 publications in 2015

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

Year	Major Topic	Minor Topic	Total
1996	1	1	2
1997	1	0	1
1999	0	2	2
2001	2	1	3
2002	0	2	2
2003	1	3	4
2004	1	2	3
2005	0	2	2
2006	3	0	3
2007	0	1	1
2008	2	1	3
2009	3	1	4
2010	1	4	5
2011	0	3	3
2012	2	3	5
2013	4	3	7
2014	3	3	6
2015	5	5	10
2016	1	4	5
2017	3	6	9
2018	1	2	3
2019	3	5	8
2020	3	1	4
2021	0	6	6
2022	0	2	2
2023	1	1	2
2024	2	4	6
2025	3	2	5
2026	2	0	2

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

Strnadov? I, Tso M, Loblinzk Refalo J, Roberts N, Danker J, Sarfaraz S, Boyle J, Terrill B, Halliburton C, Pantoja Mardones C, Hayes S, Hurd S, King C, Barlow-Stewart K, Evans E, Leonard H, Mar Fan H, Rodgers J, Vella Y, McGaughran J, Best S, Turbitt E, Scully JL, Pratt G, Palmer EE. Building genetic healthcare together: an Australian co-production three-phase mixed-methods research protocol with people with intellectual disability. BMJ Open. 2026 Jul 10; 16(7):e110086.

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Gould D, Walker R, Makari-Judson G, Seven M. The Experiences and Needs of Individuals with a Variant of Uncertain Significance on Genetic Tests for Hereditary Cancer Syndromes:A Grounded Theory Study. Semin Oncol Nurs. 2026 04; 42(2):152148.

View in: PubMed
Lord KA, Sohrab V, Bryc K, White ME, Kenney B, Morrill Pirovich K, Chen FL, Karlsson EK. Genetic testing predicts appearance but not behavior in dogs. Proc Natl Acad Sci U S A. 2025 Dec 02; 122(48):e2421752122.

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Hale JE, O'Sullivan BP, Parad RB, Dorkin HL, Kremer TM, Vehse NW, Yonker LM, Sawicki GS, Counihan AM, Gerstel-Thompson J, Kumar B, Comeau AM. Expansion of variant panels in newborn screening algorithms to identify cystic fibrosis: A retrospective analysis of 25 years of genotypes and implications on diagnosis. Genet Med. 2026 Jan; 28(1):101629.

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Iacoangeli A, Dilliott AA, Al Khleifat A, Andersen PM, Basak NA, Cooper-Knock J, Corcia P, Couratier P, deCarvalho M, Drory VE, Glass JD, Gotkine M, Lerner YM, Hardiman O, Landers JE, McLaughlin RL, Pardina JSM, Morrison K, Pinto S, Povedano M, Shaw CE, Shaw PJ, Silani V, Ticozzi N, van Damme P, van den Berg LH, Vourc'h P, Weber M, Veldink JH, Dobson R, Rouleau GA, Al-Chalabi A, Farhan SMK. Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications. J Neurol Neurosurg Psychiatry. 2025 Sep 12; 96(10):928-936.

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Neary CM, Ong MS, Farmer JR. Sociodemographic drivers of care disparity among patients with inborn errors of immunity. Curr Opin Pediatr. 2025 Dec 01; 37(6):613-618.

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D'Gama AM, Douglas J, Hills S, Wojcik MH, Genetti CA, Verran AS, Parker MG, Yu TW, Agrawal PB. Implementing customized genomic sequencing reports to empower providers in safety-net neonatal intensive care units. Genet Med. 2025 Nov; 27(11):101554.

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Gilbert KM, McLaughlin HM, Farmer JR, Ong MS. Disparities in Genetic Testing for Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2025 02; 13(2):388-395.e3.

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Aimo A, Todiere G, Barison A, Tomasoni D, Panichella G, Masri A, Maron MS. Diagnosis and management of hypertrophic cardiomyopathy: European vs. American guidelines. Heart Fail Rev. 2025 03; 30(2):315-325.

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Best MC, Butow P, Savard J, Newson AJ, Campbell R, Vatter S, Napier CE, Bartley N, Tucker K, Ballinger ML, Thomas DM. From ownership to custodianship of tumor biopsy tissue in genomic testing: a mixed methods study of patient views. Oncologist. 2024 09 06; 29(9):e1169-e1179.

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