 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 |
|---|
| 2024 | 2 | 0 | 2 | | 2023 | 0 | 4 | 4 | | 2022 | 0 | 5 | 5 | | 2021 | 1 | 3 | 4 | | 2020 | 2 | 2 | 4 | | 2019 | 2 | 3 | 5 | | 2018 | 4 | 2 | 6 | | 2017 | 3 | 5 | 8 | | 2016 | 5 | 5 | 10 | | 2015 | 3 | 4 | 7 | | 2014 | 1 | 2 | 3 | | 2013 | 1 | 2 | 3 | | 2012 | 0 | 2 | 2 | | 2011 | 1 | 3 | 4 | | 2010 | 2 | 3 | 5 | | 2009 | 2 | 2 | 4 | | 2008 | 0 | 1 | 1 | | 2007 | 1 | 3 | 4 | | 2006 | 1 | 1 | 2 | | 2003 | 0 | 1 | 1 | | 2002 | 1 | 0 | 1 | | 2000 | 0 | 1 | 1 | | 1999 | 0 | 1 | 1 | | 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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Ramsey ML, Heald B, Gokun Y, Baker J, Groce JR, Han S, Hart PA, Krishna SG, Lara LF, Lee PJ, Papachristou GI, Pearlman R, Poll S, Roberts ME, Stanich PP. Germline multigene panel testing in acute and chronic pancreatitis. PLoS One. 2024; 19(8):e0307076.
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Dittman JM, Prakash SK, Gupta PC, Wiszniewski W, Singh N, Smeds MR, Shalhub S. Practice Patterns and Barriers to Vascular Genetic Testing Among Vascular Surgeons. Ann Vasc Surg. 2024 Aug; 105:140-149.
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Milligan I, Border W, Sachdeva R, Michelfelder E. Contemporary Outcomes in Fetuses Diagnosed with Vascular Rings. Pediatr Cardiol. 2024 Oct; 45(7):1559-1564.
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Pinto E Vairo F, Kemppainen JL, Vitek CRR, Whalen DA, Kolbert KJ, Sikkink KJ, Kroc SA, Kruisselbrink T, Shupe GF, Knudson AK, Burke EM, Loftus EC, Bandel LA, Prochnow CA, Mulvihill LA, Thomas B, Gable DM, Graddy CB, Garzon GGM, Ekpoh IU, Porquera EMC, Fervenza FC, Hogan MC, El Ters M, Warrington KJ, Davis JM, Koster MJ, Orandi AB, Basiaga ML, Vella A, Kumar S, Creo AL, Lteif AN, Pittock ST, Tebben PJ, Abate EG, Joshi AY, Ristagno EH, Patnaik MS, Schimmenti LA, Dhamija R, Sabrowsky SM, Wierenga KJ, Keddis MT, Samadder NJJ, Presutti RJ, Robinson SI, Stephens MC, Roberts LR, Faubion WA, Driscoll SW, Wong-Kisiel LC, Selcen D, Flanagan EP, Ramanan VK, Jackson LM, Mauermann ML, Ortega VE, Anderson SA, Aoudia SL, Klee EW, McAllister TM, Lazaridis KN. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). J Transl Med. 2023 06 23; 21(1):410.
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Borst AJ, Hammill AM, Crary SE, McLean TW, Felton T, Blatt J. Barriers to Genetic Testing in Vascular Malformations. JAMA Netw Open. 2023 05 01; 6(5):e2314829.
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Crown A, Fazeli S, Kurian AW, Ochoa DA, Joseph KA. Disparity in Breast Cancer Care: Current State of Access to Screening, Genetic Testing, Oncofertility, and Reconstruction. J Am Coll Surg. 2023 06 01; 236(6):1233-1239.
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Bodkin C, Comer A, Felker M, Gutmann L, Jones KA, Kincaid J, Payne KK, Skinner B. Challenging Neuromuscular Disease Cases. Semin Neurol. 2022 12; 42(6):716-722.
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Eljamri S, MacArthur C, Strub G, Bly R, Bonilla-Velez J, Rosenberg TL, Padia R. Genetic testing for vascular anomalies - American society of pediatric otolaryngology vascular anomalies task force practice patterns. Int J Pediatr Otorhinolaryngol. 2022 12; 163:111363.
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Miner SA, Similuk M, Jamal L, Sapp J, Berkman BE. Genomic tools for health: Secondary findings as findings to be shared. Genet Med. 2022 11; 24(11):2220-2227.
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Azab B, Rabab'h O, Aburizeg D, Mohammad H, Dardas Z, Mustafa L, Khasawneh RA, Awad H, Hatmal MM, Altamimi E. Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study. Genes (Basel). 2022 05 29; 13(6).
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Ochoa D, Jean-Louis C, Stephenson K, Woods M, Kelsey J, Henry-Tillman R. What happens after referral? Completion rates of genetic counseling evaluations in breast cancer patients. J Natl Med Assoc. 2022 Feb; 114(1):90-93.
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Bajguz D, Danylchuk NR, Czarniecki M, Selig JP, Sutphen R, Kaylor J. Utilization of genetic testing: Analysis of 4,499 prior authorization requests for molecular genetic tests at four US regional health plans. J Genet Couns. 2022 06; 31(3):771-780.
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Lepard Tassin T, Seraji K, Simonson M, Chou C. Exploring genetic counselors' use of pedigree symbols to represent assisted reproductive technology. J Genet Couns. 2021 12; 30(6):1773-1778.
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Oluwafemi OO, Musfee FI, Mitchell LE, Goldmuntz E, Xie HM, Hakonarson H, Morrow BE, Guo T, Taylor DM, McDonald-McGinn DM, Emanuel BS, Agopian AJ. Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States. Genes (Basel). 2021 07 01; 12(7).
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Fenu E, O'Neill SS, Insuasti-Beltran G. BCR-ABL1 p210 screening for chronic myeloid leukemia in patients with peripheral blood cytoses. Int J Lab Hematol. 2021 Dec; 43(6):1458-1464.
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Lei Y, Ludorf KL, Yu X, Benjamin RH, Gu X, Lin Y, Finnell RH, Mitchell LE, Musfee FI, Malik S, Canfield MA, Morrison AC, Hobbs CA, Van Zutphen AR, Fisher S, Agopian AJ. Maternal Hypertension-Related Genotypes and Congenital Heart Defects. Am J Hypertens. 2021 02 18; 34(1):82-91.
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Niss O, Lorsbach RB, Berger M, Chonat S, McLemore M, Buchbinder D, McCavit T, Shaffer LG, Simpson J, Schwartz JH, Meznarich J, Emberesh M, Seu KG, Zhang W, Kalfa TA. Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR). Blood Cells Mol Dis. 2021 03; 87:102534.
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Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2021 03; 23(3):498-507.
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Sewda A, Agopian AJ, Goldmuntz E, Hakonarson H, Morrow BE, Musfee F, Taylor D, Mitchell LE. Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. PLoS One. 2020; 15(6):e0234357.
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Rosenberger LH, Thomas SM, Nimbkar SN, Hieken TJ, Ludwig KK, Jacobs LK, Miller ME, Gallagher KK, Wong J, Neuman HB, Tseng J, Hassinger TE, Jakub JW. Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing. Ann Surg Oncol. 2020 Oct; 27(10):3633-3640.
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Lowery RS, Dehnel JR, Schaefer GB, Uwaydat SH. Rates of diagnostic genetic testing in a tertiary ocular genetics clinic. Ophthalmic Genet. 2020 06; 41(3):271-274.
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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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Mester JL, Jackson SA, Postula K, Stettner A, Solomon S, Bissonnette J, Murphy PD, Klein RT, Hruska KS. Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing. J Mol Diagn. 2020 03; 22(3):396-404.
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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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van der Plas E, Langbehn DR, Conrad AL, Koscik TR, Tereshchenko A, Epping EA, Magnotta VA, Nopoulos PC. Abnormal brain development in child and adolescent carriers of mutant huntingtin. Neurology. 2019 Sep 03; 93(10):e1021-e1030.
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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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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. Am J Med Genet A. 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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McKelvey KD, Trana CJ, Kelsay J, Sawyer J, Clothier J. Phelan-McDermid syndrome and cancer predisposition: The value of a karyotype. Am J Med Genet A. 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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Steffen LE, Du R, Gammon A, Mandelblatt JS, Kohlmann WK, Lee JH, Buys SS, Stroup AM, Campo RA, Flores KG, Vicu?a B, Schwartz MD, Kinney AY. Genetic Testing in a Population-Based Sample of Breast and Ovarian Cancer Survivors from the REACH Randomized Trial: Cost Barriers and Moderators of Counseling Mode. Cancer Epidemiol Biomarkers Prev. 2017 12; 26(12):1772-1780.
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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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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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Langford DJ, Paul SM, West CM, Dunn LB, Levine JD, Kober KM, Dodd MJ, Miaskowski C, Aouizerat BE. Variations in potassium channel genes are associated with distinct trajectories of persistent breast pain after breast cancer surgery. Pain. 2015 Mar; 156(3):371-380.
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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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