"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
|
| MeSH Number(s) |
E01.370.225.562 E05.200.562 E05.393.435 N02.421.308.430 N02.421.726.233.221
|
| 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
|
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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2014 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2017 | 1 | 3 | 4 |
| 2018 | 2 | 4 | 6 |
| 2019 | 2 | 1 | 3 |
| 2020 | 2 | 3 | 5 |
| 2021 | 2 | 3 | 5 |
| 2022 | 0 | 1 | 1 |
| 2023 | 3 | 2 | 5 |
| 2024 | 0 | 5 | 5 |
| 2025 | 1 | 3 | 4 |
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Below are the most recent publications written about "Genetic Testing" by people in Profiles.
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants. Am J Hum Genet. 2025 Oct 02; 112(10):2266-2280.
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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer. Genet Med. 2025 Nov; 27(11):101565.
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Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53. HGG Adv. 2025 Oct 09; 6(4):100484.
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Call to action for genetic counseling research in hereditary cancer: Considerations from the evidence-based guidelines development process. J Genet Couns. 2025 Jun; 34(3):e70026.
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants. Am J Hum Genet. 2024 Nov 07; 111(11):2411-2426.
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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel. Am J Hum Genet. 2024 Sep 05; 111(9):2044-2058.
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Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines. Hum Mol Genet. 2024 04 08; 33(8):724-732.
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Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain. Am J Hum Genet. 2024 03 07; 111(3):584-593.
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Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data. Am J Med Genet A. 2024 05; 194(5):e63505.
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ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification. Am J Hum Genet. 2024 01 04; 111(1):24-38.