Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 3 complete abstracts (684 words), 9 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
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.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Testing, Genetic; Genetic Screening; Genetic Screenings; Screening, Genetic; Screenings, Genetic; Testing, Genetic Predisposition; Predisposition Testing, Genetic; Predictive Genetic Testing.
Where it fits in the MeSH classification
- Broader topics
- Clinical Laboratory Techniques; Genetic Techniques; Genetic Services; Diagnostic Services
- Narrower topics
- Genetic Carrier Screening; Noninvasive Prenatal Testing; Pharmacogenomic Testing
- See also
- Genetic Carrier Screening; Prenatal Diagnosis; Preimplantation Diagnosis; Genetic Predisposition to Disease; Molecular Diagnostic Techniques; Databases, Genetic; Databases, Nucleic Acid; Genetic Privacy
Related concepts
Research landscape
PubMed indexes 61,018 records tagged with the MeSH heading “Genetic Testing” (counts retrieved 2026-10-29). 14,824 of them (24.3%) were published from 2020 onward, and the busiest period so far is 2010-2019 with 21,145 records.
Reviews account for 11,230 records (18.4%) and meta-analyses for 330. Randomized controlled trials number 530 (0.9%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 10,000 |
| 2000-2009 | 15,049 |
| 2010-2019 | 21,145 |
| 2020 onward | 14,824 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 11,230 | 18.4% |
| Meta-analyses | 330 | 0.5% |
| Randomized controlled trials | 530 | 0.9% |
Method: PubMed query "Genetic Testing"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in genetics and genomics
Genetic findings vary widely in strength. A variant linked to a condition in one study may not replicate in other ancestries, and most common variants have small effects that are meaningful only in aggregate. Studies of rare, high-impact variants can support strong causal claims about a gene, while association studies describe statistical links that need functional and independent replication. Check the sample size, the ancestry of participants, whether results were replicated, and whether a laboratory or clinical outcome was actually measured.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders | 2026 | Research article Design not recorded in structured metadata | 9 | cc by PMID 41807732 · DOI · PMC13247170 |
| Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer | 2026 | Research article Design not recorded in structured metadata | 5 | cc by PMID 41691430 · DOI · PMC12906649 |
| Cascade genetic screening in families with hereditary transthyretin amyloidosis: diagnostic and prognostic impact | 2026 | Research article Design not recorded in structured metadata | 4 | cc by PMID 41955077 · DOI · PMC13500165 |
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Splice-disrupting variants are estimated to account for one-third of disease-causing variants, yet many remain underrepresented in clinical databases due to limitations in detecting splicing changes beyond canonical splice sites.
- Closing excerpt
- These results demonstrate that long-read RNA-seq enhances detection and interpretation of clinically relevant splicing events, supporting its integration into diagnostic workflows for rare diseases.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (239 words)
Splice-disrupting variants are estimated to account for one-third of disease-causing variants, yet many remain underrepresented in clinical databases due to limitations in detecting splicing changes beyond canonical splice sites. Short-read RNA sequencing (RNA-seq) has proved to be a valuable complement in clinical practice to address this gap, however, the added value of long-read RNA-seq is unclear. We evaluated the potential of PacBio long-read RNA-seq to detect pathogenic splicing events in rare disorders, comparing its performance to short-read RNA-seq. Participants from the UK (n = 23) and the Netherlands (n = 2) with suspected splice-altering variants underwent long-read RNA-seq following the Kinnex full-length RNA protocol. HiFi reads from the Revio instrument were processed using the Read Segmentation and Iso-Seq workflow and then classified and filtered using Pigeon. Detection of disease genes was comparable with short reads, with fibroblast capturing more transcripts overall. Novel isoforms accounted for ~14% of detected transcripts in both tissues, increasing following cycloheximide treatment in fibroblasts and decreasing following globin depletion in blood. Transcript abundance estimates showed strong concordance between short- and long-read platforms (Pearson r = 0.86 and 0.61 in blood and fibroblasts, respectively). LRS captured 21 confirmed known events, and revealed additional transcript-level effects in eight cases. This included intron retention, multiple exon skipping, leaky splicing, variant phasing, and isoform switching. These results demonstrate that long-read RNA-seq enhances detection and interpretation of clinically relevant splicing events, supporting its integration into diagnostic workflows for rare diseases.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41807732 · DOI · PMC13247170
Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer [2]
Abstract reading summary — source excerpts
- Opening excerpt
- BackgroundLittle is known about the genetic background of individuals with familial pancreatic cancer (PC).
- Closing excerpt
- #NCT05724992.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (204 words)
BackgroundLittle is known about the genetic background of individuals with familial pancreatic cancer (PC). Integrating germline testing into surveillance may uncover previously unrecognized hereditary susceptibility and expand prevention strategies beyond BRCA testing alone. This study evaluated the genetic landscape of high-risk individuals due to familiality (HRI-FHs) enrolled in a national surveillance program.MethodsFive hundred HRI-FHs from seven centers underwent surveillance and germline testing with a 41-gene NGS panel. Pathogenic/likely pathogenic variants (PGVs) and variants of unknown significance (VUS) were identified and correlated with clinical and imaging findings.ResultsOverall, forty-four (8.8%) out of 500 HRI-FHs carried at least one PGV, including 3.4% in high-penetrance genes (ATM, BRCA1/2, PALB2, BRIP1). Notably, 8 out of 17 (47%) of ATM, BRCA1/2, PALB2 carriers would not have met the national testing criteria based solely on their family history. An additional 5.4% (27/500) carried PGVs in genes linked to other hereditary conditions (CFTR, MUTYH, CTRC, SPINK1, APC), and 39.6% harbored at least one VUS. PGV status, age, and female gender were independent predictors of radiological abnormalities. Two PCs were diagnosed, both in mutation-negative individuals.DiscussionIntegrating germline testing into surveillance redefines the management of familial PC. It uncovers hereditary susceptibility beyond classical criteria and supports cascade testing. PC also arises in mutation-negative HRI. #NCT05724992.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41691430 · DOI · PMC12906649
Cascade genetic screening in families with hereditary transthyretin amyloidosis: diagnostic and prognostic impact [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Background and aimsHereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant disease with variable penetrance.
- Closing excerpt
- Systematic, genotype-informed surveillance in ATTRv is key to optimize outcomes.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (241 words)
Background and aimsHereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant disease with variable penetrance. Cascade genetic screening may enable earlier diagnosis and intervention, but its prognostic impact remains unclear.MethodsThis study retrospectively analysed 967 individuals from 431 families between 2004 and 2024 across 15 Italian referral centres. Participants were categorized as ATTRv index cases, symptomatic carriers (genotype-positive/phenotype-positive [G+/P+]), or asymptomatic carriers (genotype-positive/phenotype-negative [G+/P-]). Clinical characteristics, disease conversion, and survival were evaluated.ResultsFollowing identification of 398 index cases, genetic screening of 1243 relatives identified 569 carriers (461 G+/P-, 108 G+/P+). Among the 461 G+/P-, over a median follow-up of 5.3 [1.7-9.8] years, 77 (16.7%) patients developed a clinical diagnosis of ATTRv: Glu89Gln (42.2%, 95% confidence interval [CI] 28.8-56.9), Phe64Leu (24.7%, 95% CI 16.1-35.8), Val30Met (13.1%, 95% CI 7.4-22.1), Ile68Leu (7.3%, 95% CI 4.1-12.8), and Val122Ile (5.1%, 95% CI 1.3-18.3), other variants 22.9% (95% CI 14.5-34.1). Notably, 11/62 (17.7%) carriers converted >10 years earlier than the predicted age of disease onset. G + P+ patients had better survival than index (hazard ratio [HR] 0.43, 95% CI 0.24-0.79), and mixed phenotype showed worse outcomes than cardiac presentations. Disease-modifying therapy was independently associated with lower mortality (HR 0.11, 95% CI 0.01-0.17).ConclusionsCascade genetic screening facilitated earlier diagnosis and was associated with improved survival, likely related to identification at an earlier stage of disease and timely treatment initiation. Variant-specific follow-up is essential, as some carriers convert earlier than predicted. Systematic, genotype-informed surveillance in ATTRv is key to optimize outcomes.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41955077 · DOI · PMC13500165
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma [4]
- Research article Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline [5]
- Research article Emotional distress following genetic testing for hereditary breast and ovarian cancer: a meta-analytic review [6]
- Research article Pharmacogenomic Testing and Depressive Symptom Remission: A Systematic Review and Meta-Analysis of Prospective, Controlled Clinical Trials [7]
- Research article Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation [8]
- Research article Testing for HER2-positive breast cancer: a systematic review and cost-effectiveness analysis [9]
References
- Jaramillo Oquendo C, Ferraro F, Wai HA, Ferrao H, van der Linde H, Karelioti E, et al.. HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders. . 2026. PMID 41807732 · DOI · PMC13247170
- Paiella S, Secchettin E, Archibugi L, De Luca R, Bonifacio C, Laghi L, et al.. Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer. . 2026. PMID 41691430 · DOI · PMC12906649
- Cappelli F, Fumagalli C, Luigetti M, Mussinelli R, Longhi S, Guaraldi P, et al.. Cascade genetic screening in families with hereditary transthyretin amyloidosis: diagnostic and prognostic impact. . 2026. PMID 41955077 · DOI · PMC13500165
- Williamson D, Missiaglia E, de Reyniès A, Pierron G, Thuille B, Palenzuela G, et al.. Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma. J Clin Oncol. 2010. PMID 20351326 · DOI
- Konstantinopoulos PA, Norquist B, Lacchetti C, Armstrong D, Grisham RN, Goodfellow PJ, et al.. Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline. J Clin Oncol. 2020. PMID 31986064 · DOI · PMC8842911
- Hamilton JG, Lobel M, Moyer A. Emotional distress following genetic testing for hereditary breast and ovarian cancer: a meta-analytic review. Health Psychol. 2009. PMID 19594276 · DOI · PMC2807362
- Brown LC, Stanton JD, Bharthi K, Maruf AA, Müller DJ, Bousman CA. Pharmacogenomic Testing and Depressive Symptom Remission: A Systematic Review and Meta-Analysis of Prospective, Controlled Clinical Trials. Clin Pharmacol Ther. 2022. PMID 36111494 · DOI · PMC9827897
- Cornelisse S, Zagers M, Kostova E, Fleischer K, van Wely M, Mastenbroek S. Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation. Cochrane Database Syst Rev. 2020. PMID 32898291 · DOI · PMC8094272
- Dendukuri N, Khetani K, McIsaac M, Brophy J. Testing for HER2-positive breast cancer: a systematic review and cost-effectiveness analysis. CMAJ. 2007. PMID 17485695 · DOI · PMC1863543
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.