 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 N02.421.308.430 N02.421.726.233.221
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| 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
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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 this website 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 |
|---|
| 1996 | 1 | 1 | 2 | | 1997 | 3 | 0 | 3 | | 1998 | 0 | 1 | 1 | | 1999 | 1 | 3 | 4 | | 2000 | 5 | 2 | 7 | | 2001 | 4 | 3 | 7 | | 2002 | 2 | 1 | 3 | | 2003 | 4 | 3 | 7 | | 2004 | 2 | 3 | 5 | | 2005 | 6 | 10 | 16 | | 2006 | 2 | 6 | 8 | | 2007 | 4 | 7 | 11 | | 2008 | 5 | 10 | 15 | | 2009 | 4 | 5 | 9 | | 2010 | 1 | 2 | 3 | | 2011 | 3 | 11 | 14 | | 2012 | 4 | 0 | 4 | | 2013 | 9 | 7 | 16 | | 2014 | 4 | 4 | 8 | | 2015 | 10 | 14 | 24 | | 2016 | 7 | 9 | 16 | | 2017 | 7 | 12 | 19 | | 2018 | 14 | 16 | 30 | | 2019 | 10 | 16 | 26 | | 2020 | 1 | 10 | 11 | | 2021 | 9 | 14 | 23 | | 2022 | 3 | 9 | 12 | | 2023 | 3 | 10 | 13 | | 2024 | 7 | 9 | 16 | | 2025 | 11 | 11 | 22 | | 2026 | 6 | 3 | 9 |
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Below are the most recent publications written about "Genetic Testing" by people in Profiles.
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Morganti S, Kim SE, Jin Q, Cha J, Zeigler JE, Newman AB, Kirkner GJ, Snow C, Zheng Y, Vincuilla J, Parker T, Buehler RM, Bychkovsky BL, Dibble KE, Sella T, Ruddy KJ, Rosenberg SM, Collins LC, Peppercorn J, Schapira L, Borges VF, Guzman-Arocho YD, Come SE, Warner E, Poorvu PD, Lambertini M, Curigliano G, Hughes ME, Mittendorf EA, King TA, Lin NU, Garber JE, Tayob N, Tolaney SM, Partridge AH, Lynce F. Outcomes and treatment patterns in germline BRCA1/2 carriers from two matched cohort studies. JNCI Cancer Spectr. 2026 Jul 07; 10(4).
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Hansen A, Luca S, Moran O, Babul-Hirji R, Coe TB, Wilk K, Assamad D, Fooks K, Venkataramanan V, Shickh S, Yan J, Wu V, Badalato L, Balci TB, Ladouceur VB, Chad L, Chisholm C, Gillespie MK, Huang L, Jarinova O, Lau L, Lee W, Mackley MP, Marshall CR, Mendoza-Londono R, Morel CF, Richer J, Sawyer S, Stavropoulos DJ, Szuto A, Tarnopolsky M, Villani A, Zahavich L, Somerville MJ, Boycott KM, Ungar WJ, Hayeems RZ. Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing. J Genet Couns. 2026 Jun; 35(3):e70218.
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Bui QM, Berninger T, Morales A, Korty L, Allen LA, Adler ED, Urey MA, Hong KN, Rabin B, Bloss C. A pilot qualitative study of patient understanding and perceptions of genetic counselors and cascade testing in the context of transthyretin cardiac amyloidosis. J Genet Couns. 2026 Jun; 35(3):e70249.
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Meder B, Coats CJ, Leinwand LA, Pieroni M, Garcia-Pavia P, Desai MY, Sedaghat-Hamedani F. EJHF expert consensus statement on the diagnosis and management of hypertrophic cardiomyopathy. Eur J Heart Fail. 2026 May 11; 28(2):299-314.
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O'Connor TN, Schultz E, Horowitz M, Alexander MH, Fountzilas C, Cherkassky L, Onel K, Knudsen ES, Witkiewicz AK. Increasing Use of Germline Genetic Testing in Pancreatic Ductal Adenocarcinoma and Relationship to Clinical Outcome: A Single-Institution Study. JCO Precis Oncol. 2026 Apr; 10(4):e2501088.
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Aquino YSJ, Scarfe J, Popic D, Carolan L, Degeling C, Prokopovich K, Otlowski MFA, Singh S, Fabrianesi B, Bhattacharya K, Jones K, Newson AJ, Shih P, Bennetts B, Frost E, Stark ZL, Nowak K, Healy L, Norris S, Carter SM. Genomic Newborn Screening: Verdict From an Australian Citizens' Jury. Med J Aust. 2026 Apr; 224(4):e70184.
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Assamad D, Hansen A, Fooks K, Luca S, Venkataramanan V, Hsue E, Shickh S, Yan J, Wu V, Badalato L, Balci TB, Beausejour Ladouceur V, Chad L, Chisholm C, Gillespie MK, Huang L, Jarinova O, Lau L, Lee W, Mackley MP, Marshall CR, Mendoza-Londono R, Morel CF, Richer J, Sawyer S, Stavropoulos DJ, Szuto A, Tarnopolsky M, Villani A, Zahavich L, Somerville MJ, Boycott KM, Ungar WJ, Hayeems RZ. Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study. BMJ Open. 2026 Mar 27; 16(3):e115821.
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Kamihara J, Fisher L, Schienda J, Vanderwall R, Snir M, Snir G, Simmons E, Khalaj A, Goler E, Hamilton KV, Porter CC, Pencheva B, Schiffman JD, Maese LD, Kohlmann W, Henderson TO, Garber JE, Diller LR, Desai AV, Savage S, Klosky JL, Rana HQ, Mack JW. Development and pilot testing of AYA-RISE, a risk information and screening education intervention for adolescents and young adults with cancer risk syndromes. Fam Cancer. 2026 Jan 23; 25(1):11.
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Morel A, Delacroix E, Rice JD, Austin S, Koeppe E, Hanson EN, Griggs JJ, Stoffel EM, Resnicow K. Quantifying the role of communication in recruitment status outcomes for a clinical trial on genetic testing uptake. Contemp Clin Trials. 2026 Feb; 161:108218.
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Hunsicker JW, Ballard M, Khanwalkar A, Wine TM, Lovell MA, Suttman AG, Schneider KW, Chan KH. Otolaryngologic evaluation and management of nasal chondromesenchymal hamartoma. Int J Pediatr Otorhinolaryngol. 2026 Jan; 200:112657.
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