 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.
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
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| MeSH Number(s) |
E01.370.225.562 E05.200.562 E05.393.435 N02.421.143.827.233.221 N02.421.308.430
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| Concept/Terms |
Testing, Genetic Predisposition- Testing, Genetic Predisposition
- Predisposition Testing, Genetic
- Predictive Genetic Testing
- Genetic Testing, Predictive
- Testing, Predictive Genetic
- Predictive Testing, Genetic
- Genetic Predictive Testing
- Testing, Genetic Predictive
- Genetic Predisposition Testing
Genetic Screening- Genetic Screening
- Genetic Screenings
- Screening, Genetic
- Screenings, Genetic
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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 UAMS Profiles by year, and whether "Genetic Testing" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2020 | 3 | 0 | 3 | | 2019 | 1 | 5 | 6 | | 2018 | 6 | 2 | 8 | | 2017 | 2 | 6 | 8 | | 2016 | 6 | 5 | 11 | | 2015 | 3 | 3 | 6 | | 2014 | 1 | 2 | 3 | | 2013 | 1 | 3 | 4 | | 2012 | 0 | 2 | 2 | | 2011 | 1 | 4 | 5 | | 2010 | 2 | 3 | 5 | | 2009 | 3 | 2 | 5 | | 2008 | 0 | 2 | 2 | | 2007 | 2 | 2 | 4 | | 2006 | 1 | 1 | 2 | | 2003 | 0 | 1 | 1 | | 2002 | 1 | 0 | 1 | | 2000 | 0 | 2 | 2 | | 1993 | 0 | 1 | 1 | | 1992 | 0 | 1 | 1 |
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Below are the most recent publications written about "Genetic Testing" by people in Profiles over the past ten years.
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Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF. An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm. Am J Hum Genet. 2020 11 05; 107(5):942-952.
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Moore KN, Zorn KK. Germline and Somatic Testing in Ovarian Cancer: Shifting Sands of Recommendations. Gynecol Oncol. 2020 03; 156(3):515-516.
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Mena-Gutierrez AM, Reeves-Daniel AM, Jay CL, Freedman BI. Practical Considerations for APOL1 Genotyping in the Living Kidney Donor Evaluation. Transplantation. 2020 01; 104(1):27-32.
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Winters AC, Gutman JA, Purev E, Nakic M, Tobin J, Chase S, Kaiser J, Lyle L, Boggs C, Halsema K, Schowinsky JT, Rosser J, Ewalt MD, Siegele B, Rana V, Schuster S, Abbott D, Stevens BM, Jordan CT, Smith C, Pollyea DA. Real-world experience of venetoclax with azacitidine for untreated patients with acute myeloid leukemia. Blood Adv. 2019 10 22; 3(20):2911-2919.
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Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL, Kesserwan C, Agarwal A, Luo M, Li Z, Ross JE, Baliakas P, Pineda-Alvarez D, DiNardo CD, Bertuch AA, Mehta N, Vulliamy T, Wang Y, Nichols KE, Malcovati L, Walsh MF, Rawlings LH, McWeeney SK, Soulier J, Raimbault A, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LA. ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Blood Adv. 2019 10 22; 3(20):2962-2979.
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Ammerman LK, Lee DN, Jones BA, Holt MP, Harrison SJ, Decker SK. High Frequency of Multiple Paternity in Eastern Red Bats, Lasiurus borealis, Based on Microsatellite Analysis. J Hered. 2019 10 10; 110(6):675-683.
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Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, Bainbridge MN, Carroll J, Caylor SA, Clarke C, Ding Y, Ellsworth K, Farnaes L, Hildreth A, Hobbs C, James K, Kint CI, Lenberg J, Nahas S, Prince L, Reyes I, Salz L, Sanford E, Schols P, Sweeney N, Tokita M, Veeraraghavan N, Watkins K, Wigby K, Wong T, Chowdhury S, Wright MS, Dimmock D. A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants. Am J Hum Genet. 2019 10 03; 105(4):719-733.
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Zhou Z, Lunetta KL, Smith AK, Wolf EJ, Stone A, Schichman SA, McGlinchey RE, Milberg WP, Miller MW, Logue MW. Correction for multiple testing in candidate-gene methylation studies. Epigenomics. 2019 07; 11(9):1089-1105.
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Giebel AM, Hu S, Rajaram K, Finethy R, Toh E, Brothwell JA, Morrison SG, Suchland RJ, Stein BD, Coers J, Morrison RP, Nelson DE. Genetic Screen in Chlamydia muridarum Reveals Role for an Interferon-Induced Host Cell Death Program in Antimicrobial Inclusion Rupture. mBio. 2019 04 09; 10(2).
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Hays LH. Societal value of newborn screening for severe combined immune deficiency in Arkansas: An economic analysis. Public Health Nurs. 2019 07; 36(4):541-544.
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Seifert BA, McGlaughon JL, Jackson SA, Ritter DI, Roberts ME, Schmidt RJ, Thompson BA, Jimenez S, Trapp M, Lee K, Plon SE, Offit K, Stadler ZK, Zhang L, Greenblatt MS, Ferber MJ. Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework. Genet Med. 2019 07; 21(7):1507-1516.
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Courtney E, Chin XW, Yuen J, Li ST, Chen Y, Allen JC, Tan V, Lim GH, Ngeow J. Risk management adherence following genetic testing for hereditary cancer syndromes: a Singaporean experience. Fam Cancer. 2018 10; 17(4):621-626.
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Zubenko GS, Sommer BR, Cohen BM. On the Marketing and Use of Pharmacogenetic Tests for Psychiatric Treatment. JAMA Psychiatry. 2018 08 01; 75(8):769-770.
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Salloum RG, George TJ, Silver N, Markham MJ, Hall JM, Guo Y, Bian J, Shenkman EA. Rural-urban and racial-ethnic differences in awareness of direct-to-consumer genetic testing. BMC Public Health. 2018 02 23; 18(1):277.
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Nembhard WN, Tang X, Li J, MacLeod SL, Levy J, Schaefer GB, Hobbs CA. A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects. . 2018 03; 176(3):609-617.
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Roberts ME, Jackson SA, Susswein LR, Zeinomar N, Ma X, Marshall ML, Stettner AR, Milewski B, Xu Z, Solomon BD, Terry MB, Hruska KS, Klein RT, Chung WK. MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. Genet Med. 2018 10; 20(10):1167-1174.
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Kubendran S, Duong J, Dong F, Lueking A, Farley D. Implementing a Protocol to Optimize Detection of Chromosome Abnormalities in Cases of Miscarriage or Stillbirth at a Midwestern Teaching Hospital. Perm J. 2018; 22:17-204.
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Musci RJ, Fairman B, Masyn KE, Uhl G, Maher B, Sisto DY, Kellam SG, Ialongo NS. Polygenic Score × Intervention Moderation: an Application of Discrete-Time Survival Analysis to Model the Timing of First Marijuana Use Among Urban Youth. Prev Sci. 2018 01; 19(1):6-14.
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Chew W, Moorakonda RB, Courtney E, Soh H, Li ST, Chen Y, Shaw T, Allen JC, Evans DGR, Ngeow J. Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country. J Med Genet. 2018 05; 55(5):344-350.
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McKelvey KD, Trana CJ, Kelsay J, Sawyer J, Clothier J. Phelan-McDermid syndrome and cancer predisposition: The value of a karyotype. . 2018 01; 176(1):144-145.
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Brown S, Puumala S, Leonhard J, Bell M, Flanagan J, Dean LW, Stein Q. Genesurance Counseling: Genetic Counselors' Roles and Responsibilities in Regards to Genetic Insurance and Financial Topics. J Genet Couns. 2018 08; 27(4):800-813.
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Larsen CP, Wilson JD, Best-Rocha A, Beggs ML, Hennigar RA. Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy. Mod Pathol. 2018 03; 31(3):488-494.
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Matsui S, Noma H, Qu P, Sakai Y, Matsui K, Heuck C, Crowley J. Multi-subgroup gene screening using semi-parametric hierarchical mixture models and the optimal discovery procedure: Application to a randomized clinical trial in multiple myeloma. Biometrics. 2018 03; 74(1):313-320.
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Hardin JS, Schaefer GB, Sallam AB, Williams MK, Uwaydat S. A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance. Ophthalmic Genet. 2017 12; 38(6):570-574.
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Walters WD, Garnica AD, Schaefer GB. McArdle Disease Presenting With Muscle Pain in a Teenage Girl: The Role of Whole-Exome Sequencing in Neurogenetic Disorders. Semin Pediatr Neurol. 2018 07; 26:50-51.
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Khurana S, Saini V, Wadhwa V, Kaur H. Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation. J Ultrasound. 2017 Jun; 20(2):167-170.
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Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017 02; 19(2):249-255.
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Jacobs RW, Awan FT, Leslie LA, Usmani SZ, Ghosh N. The shrinking role of chemotherapy in the treatment of chronic lymphocytic leukemia. Expert Rev Hematol. 2016 Dec; 9(12):1177-1187.
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Li ST, Yuen J, Zhou K, Binte Ishak ND, Chen Y, Met-Domestici M, Chan SH, Tan YP, Allen JC, Lim ST, Soo KC, Ngeow J. Impact of subsidies on cancer genetic testing uptake in Singapore. J Med Genet. 2017 04; 54(4):254-259.
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Zarate YA, Fish JL. SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. Am J Med Genet A. 2017 Feb; 173(2):327-337.
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Perez-Marques F, Simpson P, Yan K, Quasney MW, Halligan N, Merchant D, Dahmer MK. Association of polymorphisms in genes of factors involved in regulation of splicing of cystic fibrosis transmembrane conductance regulator mRNA with acute respiratory distress syndrome in children with pneumonia. Crit Care. 2016 09 05; 20:281.
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Barrinqer SN, Sandlin AT, Magann EF. Non-Invasive Prenatal Testing (NIPT) in Arkansas: Prenatal Genetics Clinic Experience and Lessons Learned. J Ark Med Soc. 2016 08; 113(2):38-40, 42.
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Cooley LD, Morton CC, Sanger WG, Saxe DF, Mikhail FM. Section E6.5-6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor-acquired chromosomal abnormalities. Genet Med. 2016 06; 18(6):643-8.
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Mendez P, Dang J, Kim JW, Lee S, Yoon JH, Kim T, Sailey CJ, Jablons DM, Kim IJ. Comprehensive evaluation and validation of targeted next-generation sequencing performance in two clinical laboratories. Int J Oncol. 2016 Jul; 49(1):235-42.
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Wang C, Guan YZ, Cai QQ, Su W, Zhou DB, Li J. Rapidly Progressive Polyneuropathy in a Patient With Monoclonal Gammopathy: A Case Report of POEMS Syndrome and Beyond. Medicine (Baltimore). 2016 Apr; 95(16):e3453.
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Schaefer GB. Clinical Genetic Aspects of ASD Spectrum Disorders. Int J Mol Sci. 2016 Jan 29; 17(2).
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Larsen CP, Durfee T, Wilson JD, Beggs ML. A Custom Targeted Next-Generation Sequencing Gene Panel for the Diagnosis of Genetic Nephropathies. Am J Kidney Dis. 2016 06; 67(6):992-3.
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Hayes B, Hassed S, Chaloner JL, Aston CE, Guy C. Duchenne Muscular Dystrophy: a Survey of Perspectives on Carrier Testing and Communication Within the Family. J Genet Couns. 2016 06; 25(3):443-53.
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Kattoor AJ, Bauer TW, Berkowitz M, Polster JM, Lichtin AE. Ankle pain in a young woman with Gaucher disease. Cleve Clin J Med. 2015 Sep; 82(9):607-13.
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Schaefer GB, Larson IA, Bolick J, Williamson-Dean L. What is the role of clinical genetics in the patient-centered medical home?: A commentary from the Medical Home Workgroup of the Heartland Regional Genetics and Newborn Screening Collaborative. Genet Med. 2016 05; 18(5):440-2.
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Zarate YA, Sellars E, Lepard T, Tang X, Collins RT. Aortic dilation, genetic testing, and associated diagnoses. Genet Med. 2016 Apr; 18(4):356-63.
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Ma S, Johnson D, Ashby C, Xiong D, Cramer CL, Moore JH, Zhang S, Huang X. SPARCoC: a new framework for molecular pattern discovery and cancer gene identification. PLoS One. 2015; 10(3):e0117135.
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Vengoechea J, McKelvey KD. Cholesterol and family history: when genetics matters. J Ark Med Soc. 2015 Feb; 111(9):184-6.
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Lazarin GA, Hawthorne F, Collins NS, Platt EA, Evans EA, Haque IS. Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels. PLoS One. 2014; 9(12):e114391.
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Pettey CM, McSweeney JC, Stewart KE, Price ET, Cleves MA, Heo S, Souder E. Perceptions of family history and genetic testing and feasibility of pedigree development among African Americans with hypertension. Eur J Cardiovasc Nurs. 2015 Feb; 14(1):8-15.
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Altmann A, Tian L, Henderson VW, Greicius MD. Sex modifies the APOE-related risk of developing Alzheimer disease. Ann Neurol. 2014 Apr; 75(4):563-73.
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Choudhuri I, Pinninti M, Marwali MR, Sra J, Akhtar M. Polymorphic ventricular tachycardia--part II: the channelopathies. Curr Probl Cardiol. 2013 Dec; 38(12):503-48.
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Zhang C, Kodell RL. Subpopulation-specific confidence designation for more informative biomedical classification. Artif Intell Med. 2013 Jul; 58(3):155-63.
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Vengoechea J, McKelvey KD. Genetics and cardiovascular disease: the impact of molecular diagnosis. J Ark Med Soc. 2013 Apr; 109(11):230-2.
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McClaren BJ, Aitken M, Massie J, Amor D, Ukoumunne OC, Metcalfe SA. Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing. Genet Med. 2013 Jul; 15(7):533-40.
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Pogribny IP, Rusyn I. Role of epigenetic aberrations in the development and progression of human hepatocellular carcinoma. Cancer Lett. 2014 Jan 28; 342(2):223-30.
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Prada CE, Zarate YA, Hopkin RJ. Genetic causes of macroglossia: diagnostic approach. Pediatrics. 2012 Feb; 129(2):e431-7.
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Jiwani S, Wang Y, Dowd GC, Gianfelice A, Pichestapong P, Gavicherla B, Vanbennekom N, Ireton K. Identification of components of the host type IA phosphoinositide 3-kinase pathway that promote internalization of Listeria monocytogenes. Infect Immun. 2012 Mar; 80(3):1252-66.
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King KS, Prodanov T, Kantorovich V, Fojo T, Hewitt JK, Zacharin M, Wesley R, Lodish M, Raygada M, Gimenez-Roqueplo AP, McCormack S, Eisenhofer G, Milosevic D, Kebebew E, Stratakis CA, Pacak K. Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations. J Clin Oncol. 2011 Nov 01; 29(31):4137-42.
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Olshan AF, Hobbs CA, Shaw GM. Discovery of genetic susceptibility factors for human birth defects: an opportunity for a National Agenda. . 2011 Aug; 155A(8):1794-7.
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