Preferred Label : genetic testing;

MeSH 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.;

MeSH synonym : Testing, Genetic;

Wikipedia automatic translation : Genetic screen;

MeSH hyponym : genetic screening; 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 Screenings; Screening, Genetic; Screenings, Genetic;

MeSH annotation : human and animal; for phenotype or genotype;

Wikipedia link : https://en.wikipedia.org/wiki/Genetic screen;

Details


Main resources

You can consult :

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.

https://cps.ca/fr/documents/position/le-depistage-genetiques
2022
France
public health guidelines
genetic testing
gene, nos
child
child, nos
Child
Genetics
Child
Child
Genetics
genetta, nos
Child
Genetics

---
https://www.cochrane.org/fr/CD010849/CF_identifier-le-statut-de-porteur-de-la-thalassemie-de-la-drepanocytose-de-la-mucoviscidose-ou-de-la
2021
false
false
false
false
France
United Kingdom
French
review of literature
thalassemia
anemia, sickle cell
cystic fibrosis
tay-sachs disease
pregnancy
genetic testing
risk assessment
french abstract
genetic predisposition to disease

---
http://www.sudoc.fr/233982590
2019
France
dissertations, academic
genetic testing
qualitative research
Genetics
Genetics
Genetics
gene, nos

---
http://www.eaclf.org/docs/ACPA/GBP-ACPA_d%C3%A9cembre2018.pdf
2019
false
false
false
France
French
guidelines
genetic testing
Chromosomal analysis
cytogenetic analysis
congenital abnormalities
congenital abnormalities
karyotyping
Neurodevelopmental Disorders
Neurodevelopmental Disorders

---
https://www.cochrane.org/fr/CD010891/tests-genetiques-pour-predire-et-eviter-les-eruptions-cutanees-graves-causees-par-des-medicaments
2019
false
false
false
France
United Kingdom
drug eruptions
drug eruptions
genetic testing
Evidence-Based medicine
review of literature
french abstract

---
https://www.has-sante.fr/jcms/p_3080503/fr/actes-de-preparation-qualification-et-selection-d-un-echantillon-tissulaire-ou-cellulaire-pour-analyse-de-genetique-somatique-des-cancers-rapport-d-evaluation-technologique
2019
France
health technology assessment
gene, nos
Genetics
breeding
Genetics
technology assessment
Genetics
genetic testing
albumin/globulin ratio
Technology
certification
evaluation studies as topic
Preparation
technology assessment, biomedical
cell, nos
evaluation report

---
https://www.e-cancer.fr/Expertises-et-publications/Catalogue-des-publications/L-oncogenetique-en-2017-consultations-et-laboratoires
2019
false
false
false
France
neoplasms
genetic predisposition to disease
genetic testing
hereditary breast and ovarian cancer syndrome
colorectal neoplasms, hereditary nonpolyposis
technical report

---
https://ansm.sante.fr/actualites/Prevention-des-effets-indesirables-graves-lies-a-un-deficit-en-dihydropyrimidine-deshydrogenase-DPD-lors-de-traitement-par-fluoropyrimidines-5-fluorouracile-et-capecitabine
2018
false
false
false
false
France
French
dihydropyrimidine dehydrogenase deficiency
pharmacovigilance note
Drug-Related side effects and adverse reactions
Capecitabine
fluorouracil
mass screening
antineoplastic agents
antineoplastic combined chemotherapy protocols
fluorouracil
capecitabine
genetic testing
antidotes
uridine triacetate
Poisoning caused by fluorouracil (disorder)
Capecitabine
fluorouracil
poisoning
uridine triacetate
acetates
uridine
uridine
acetates
uridine

---
http://www.eaclf.org/docs/BONNES-PRATIQUES-MALADIES-CASSANTES_02102018.pdf
2018
false
false
false
France
French
fanconi anemia
fanconi anemia
fanconi anemia
nijmegen breakage syndrome
nijmegen breakage syndrome
nijmegen breakage syndrome
ataxia telangiectasia
ataxia telangiectasia
ataxia telangiectasia
bloom syndrome
bloom syndrome
bloom syndrome
genetic testing
consensus

---
http://www.unicancer.fr/sites/default/files/guidelines_gpco-unicancer_dpd_et_fluoropyrimidines.pdf
2016
false
false
false
France
French
dihydropyrimidine dehydrogenase deficiency
mass screening
fluorouracil
patient safety
fluorouracil
Capecitabine
capecitabine
antimetabolites, antineoplastic
practice guideline
fluorouracil
fluorouracil
antimetabolites, antineoplastic
Capecitabine
Capecitabine
dihydropyrimidine dehydrogenase deficiency
genetic screening
france
continuity of patient care
genetic testing

---
http://www.jogc.com/article/S1701-2163(16)39430-0/abstract
10.1016/j.jogc.2016.07.008
2016
false
false
false
Canada
French
journal article
guideline
daytime
intention
health care
gene, nos
consumption
news
Genetic Background
communism
health personnel
genetic screening
common
mother, nos
guideline
communication
maternal health services
delivery of health care
economics
news
genetic testing
guideline

---
https://www.ccne-ethique.fr/node/179?taxo=0
2016
false
false
false
France
French
guidelines
genetic testing
High-Throughput nucleotide sequencing

---
http://www.has-sante.fr/portail/jcms/c_779534/detection-de-l-allele-hla-b5701-prealable-au-traitement-par-abacavir
2016
false
false
false
France
French
drug hypersensitivity
genetic testing
abacavir
drug hypersensitivity
HLA-B*57:01 antigen
HLA-B*5701 assay
health technology assessment
reverse transcriptase inhibitors
hypersensitivity, delayed
mass screening
dideoxynucleosides
HLA-B antigens

---
http://www.has-sante.fr/portail/jcms/c_2572426/fr/les-performances-des-tests-de-depistage-de-la-trisomie-21-foetale-par-analyse-de-l-adn-libre-circulant
http://www.has-sante.fr/portail/jcms/c_2572424/fr/recommandation-trisomie-21-volet-1
2015
false
true
false
France
French
health technology assessment
down syndrome
prenatal diagnosis
prenatal diagnosis
genetic testing
genetic testing
down syndrome
pregnancy
france
risk assessment
genetic testing
prenatal diagnosis
DNA
practice guidelines as topic
sequence analysis, DNA

---
http://www.has-sante.fr/portail/jcms/c_1739994/fr/place-de-la-strategie-couplant-les-dosages-de-la-trypsine-immunoreactive-tir-et-de-la-proteine-associee-a-la-pancreatite-pap-dans-le-depistage-systematique-de-la-mucoviscidose-en-france
http://www.has-sante.fr/portail/jcms/c_2036925/fr/place-de-la-strategie-couplant-les-dosages-de-la-tir-et-de-la-pap-dans-le-depistage-systematique-de-la-mucoviscidose-en-france
2015
false
false
false
France
French
health technology assessment
cystic fibrosis
trypsin
trypsin
Pancreatitis-Associated Proteins
neonatal screening
economic evaluation
neonatal screening
infant, newborn
algorithms
neonatal screening
cystic fibrosis
cystic fibrosis transmembrane conductance regulator
CFTR gene mutation analysis
genetic testing
diagnostic uses of chemicals

---
http://www.jogc.com/article/S1701-2163(15)30206-1/abstract
10.1016/S1701-2163(15)30206-1
2015
false
false
true
false
Canada
French
practice guideline
prenatal diagnosis
genetic testing
genetic counseling
congenital abnormalities
amniocentesis
chorionic villi sampling
cordocentesis
risk assessment

---
http://www.inserm.fr/thematiques/genetique-genomique-et-bioinformatique/dossiers-d-information/les-tests-genetiques
2015
false
false
false
France
French
scientific and technical information
genetic testing

---
http://www.fondation-arc.org/support-information/brochure-cancer-et-heredite
2015
false
true
false
false
France
neoplasms
genetic predisposition to disease
risk factors
neoplasms
genetic testing
scientific and technical information
popular works

---
http://www.franceculture.fr/emission-revolutions-medicales-les-tests-genetiques-2015-03-31
2015
false
false
false
France
French
radio broadcast
genetic testing

---
http://kce.fgov.be/fr/publication/report/tests-oncog%C3%A9n%C3%A9tiques-pour-personnes-ayant-une-pr%C3%A9disposition-h%C3%A9r%C3%A9ditaire-aux-canc#.VR5W-uEXuAo
https://kce.fgov.be/sites/default/files/2021-12/KCE_242Bs_cancers_endocriniens_resume.pdf
2015
false
false
true
Belgium
French
genetic testing
genetic predisposition to disease
practice guideline
multiple endocrine neoplasia type 1
multiple endocrine neoplasia type 2a
multiple endocrine neoplasia type 2b
von Hippel-Lindau disease
pheochromocytoma
paraganglioma
french abstract

---
http://kce.fgov.be/fr/publication/report/tests-oncog%C3%A9n%C3%A9tiques-diagnostic-et-suivi-des-syndromes-de-birt-hogg-dub%C3%A9-fammm-et#.VR5WzOEXuAo
https://kce.fgov.be/sites/default/files/2021-11/KCE_243Bs_test_oncogenetiques_neurofibromatose_resume.pdf
2015
false
false
false
Belgium
French
genetic predisposition to disease
practice guideline
french abstract
neurofibromatosis 1
neurofibromatosis 2
Birt-Hogg-Dube syndrome
dysplastic nevus syndrome
genetic testing

---
http://kce.fgov.be/fr/publication/report/tests-oncog%C3%A9n%C3%A9tiques-et-suivi-des-femmes-atteintes-dune-forme-h%C3%A9r%C3%A9ditaire-de-canc
https://kce.fgov.be/sites/default/files/2021-12/KCE_236Bs_tests_oncogenetiques_resume.pdf
2015
false
false
false
Belgium
French
practice guideline
genetic predisposition to disease
hereditary breast and ovarian cancer syndrome
li-fraumeni syndrome
hamartoma syndrome, multiple
genetic testing
continuity of patient care

---
https://www.sfdermato.org/media/pdf/recommandation/genetique-du-melanome-f2dba35251ed157f78a7a54bffe39861.pdf
2014
false
false
false
France
French
skin neoplasms
journal article
practice guideline
melanoma
genetic predisposition to disease
pancreatic neoplasms
algorithms
genetic testing
melanoma, cutaneous malignant
melanoma

---
http://kce.fgov.be/fr/publication/report/d%C3%A9pistage-oncog%C3%A9n%C3%A9tique-du-syndrome-de-lynch-et-de-la-polypose-ad%C3%A9nomateuse-famil
https://kce.fgov.be/sites/default/files/2021-11/KCE_220BS_depistage_oncogenetique_resume.pdf
2014
false
Belgium
French
adenomatous polyposis coli
practice guideline
french abstract
colorectal neoplasms, hereditary nonpolyposis
genetic testing

---
http://www.diagnostic-genetique-strasbourg.fr/
France
French
genetic testing
research structure

---
http://www.legifrance.gouv.fr/affichTexte.do;jsessionid=?cidTexte=JORFTEXT000027513617&dateTexte=&oldAction=rechJO&categorieLien=id
2013
France
French
legislation
practice guideline
genetic testing
genetic counseling

---
https://www.ccne-ethique.fr/node/182?taxo=0
2013
false
France
French
down syndrome
neonatal screening
maternal serum screening tests
genetic testing
pregnancy
fetus
guidelines

---
http://www.ethique-cancer.fr/avis/avis-ndeg21-0
2013
false
false
France
French
Health Equity
guideline
breast neoplasms
breast neoplasms
chemotherapy, adjuvant
genetic testing
consumer health information

---
https://www.coe.int/t/dg3/healthbioethic/Source/fr_geneticTests_hd.pdf
2012
France
French
popular works
genetic testing

---
http://campus.cerimes.fr/genetique-medicale/enseignement/genetique14/site/html/
2012
true
2eme cycle / master
France
French
genetic testing
genetic diseases, inborn
genetics, medical
educational course

---
http://www.sgmg.ch/
Switzerland
French
genetics, medical
genetic counseling
genetic testing
scientific society

---
http://www.jogc.com/article/S1701-2163%2816%2935192-1/abstract
10.1016/S1701-2163(16)35192-1
2012
false
Canada
French
practice guideline
genetic testing
gynecological examination

---
http://www.has-sante.fr/portail/jcms/c_1360718/regles-de-bonnes-pratiques-en-genetique-constitutionnelle-a-des-fins-medicales-hors-diagnostic-prenatal
http://www.has-sante.fr/portail/jcms/c_1360725/regles-de-bonne-pratique-en-genetique-constitutionnelle-a-des-fins-medicales
2012
France
French
genetic testing
informed consent
guideline

---
https://www.revmed.ch/RMS/2012/RMS-331/Les-tests-genetiques-peuvent-ils-etre-utiles-pour-la-prevention-cardiovasculaire
2012
Switzerland
French
cardiovascular diseases
cardiovascular diseases
journal article
genetic predisposition to disease
genetic testing
pharmacogenetics
risk factors

---
http://publications.msss.gouv.qc.ca/msss/fichiers/2012/12-902-09W.pdf
2012
false
true
false
Canada
genetic testing
breast neoplasms
breast neoplasms
technical report
breast neoplasms

---
http://www.cochrane.org/fr/CD005291
2011
false
true
false
France
United Kingdom
preimplantation diagnosis
review of literature
french abstract
fertilization in vitro
sperm injections, intracytoplasmic
aneuploidy
genetic testing

---
http://www.samw.ch/dam/jcr:1ddb5f62-ad0b-43af-85b4-d015cfa6ea74/quide_pratique_assm_genetique.pdf
2011
true
Switzerland
French
scientific and technical information
genetics
genetic testing
prenatal diagnosis
genetic diseases, inborn
genetic testing
genetic testing

---
http://sogc.org/wp-content/uploads/2013/02/gui253CO1101F.pdf
http://www.jogc.com/article/S1701-2163(16)34775-2/abstract
2011
false
Canada
French
genetic testing
genetic predisposition to disease
genetic counseling
preconception care
guideline

---
http://www.aboutkidshealth.ca/Fr/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/Neurofibromatosis-Type-1-NF1-How-is-it-Diagnosed.aspx
2010
false
true
false
Canada
neurofibromatosis 1
genetic testing
popular works
child
neurofibromatosis 1

---
http://www.aboutkidshealth.ca/Fr/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/Neurofibromatosis-Type-1-NF1-Genetic-Testing.aspx
2010
false
true
false
Canada
neurofibromatosis 1
genetic testing
popular works
neurofibromatosis 1
child

---
https://www.cadth.ca/fr/une-technologie-evolutive-la-prochaine-generation-de-tests-danalyse-de-ladn-fecal
https://www.cadth.ca/sites/default/files/pdf/ES7_Fecal_DNA_Tests_f.pdf
2010
true
Canada
French
health technology assessment
colorectal neoplasms
feces
DNA
colorectal neoplasms
genetic testing

---
http://www.e-cancer.fr/content/download/58353/532000/file/chir_prophy_predi_gene_nem2_aout2012.pdf
2009
false
France
French
genetic predisposition to disease
multiple endocrine neoplasia type 2a
multiple endocrine neoplasia type 2b
carcinoma, medullary
thyroid neoplasms
mutation
genetic testing
guideline
algorithms

---
http://www.has-sante.fr/portail/jcms/c_765713/le-depistage-neonatal-systematique-de-la-mucovsicidose-en-france-etat-des-lieux-et-perspectives-apres-5-ans-de-fonctionnement
http://www.has-sante.fr/portail/jcms/c_766247/rapport-depistage-neonatal-systematique-de-la-mucoviscidose-en-france
http://www.has-sante.fr/portail/jcms/c_766246/note-d-accompagnement-le-depistage-neonatal-systematique-de-la-mucoviscidose
2009
true
France
French
cystic fibrosis
practice guidelines as topic
genetic testing
genetic testing
genetic testing
neonatal screening
neonatal screening
cystic fibrosis
neonatal screening
public health evaluation
guideline
questionnaires
economic evaluation

---
http://www.ethique-cancer.fr/avis/avis-ndeg5-0
2009
false
false
France
French
parental notification
guideline
genetic testing
genetic predisposition to disease

---
https://saez.swisshealthweb.ch/fr/article/doi/bms.2009.14168
2009
false
Switzerland
French
genetic testing
internet
guidelines

---
http://www.ipubli.inserm.fr/handle/10608/75
2008
false
France
French
genetic diseases, inborn
professional-patient relations
genetic predisposition to disease
genetic testing
child
prenatal diagnosis
genetic testing
genetic testing
technical report

---
https://www.revmed.ch/RMS/2008/RMS-165/Tests-pharmacogenetiques-bientot-avant-chaque-prescription
2008
false
Switzerland
French
Pharmacogenetic Test
Pharmacogenomic Testing
genetic testing
tamoxifen
anticoagulants
administration, oral
anti-retroviral agents
pharmacogenetics
journal article

---
http://www.europadonna.fr/Documents/histoire_familiale.pdf
2008
true
France
French
genetic testing
breast neoplasms
risk assessment
office visits
patient education handout

---
http://revmed.ch/RMS/2007/RMS-123/32505
2007
false
false
false
Switzerland
journal article
genets
genetic testing
screening
hemochromatosis

---
https://www.paediatrieschweiz.ch/fr/intolerance-au-lactose-chez-lenfant-le-test-genetique-va-t-il-changer-notre-approche/
2007
false
Switzerland
French
child
lactose intolerance
lactose intolerance
food
genetic testing
journal article

---
https://smf.swisshealthweb.ch/fr/article/doi/fms.2006.05788/
2006
false
Switzerland
French
cytogenetic analysis
genetic testing
genetic counseling
journal article

---
https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/contribution-des-analyses-moleculaires-des-genes-brca1-2-a-levaluation-du-risque-de-predisposition-au-cancer-du-sein-ou-de-lovaire.html
2006
false
Canada
French
genetic predisposition to disease
genes, BRCA1
genes, BRCA2
genetic testing
breast neoplasms
breast neoplasms
Evidence-Based medicine
breast neoplasms
ovarian neoplasms
ovarian neoplasms
penetrance
predictive value of tests
practice guidelines as topic
technology assessment, biomedical
health technology assessment
technical report
treatment outcome

---
http://www.ccne-ethique.fr/sites/default/files/2021-02/avis086.pdf
2004
France
French
Direct-To-Consumer Screening and Testing
HIV seropositivity
self care
patient rights
access to information
hiv infections
genetic diseases, inborn
self care
commerce
genetic testing
sensitivity and specificity
hiv infections
genetic diseases, inborn
europe
aids serodiagnosis
codes of ethics
guideline

---
http://www.has-sante.fr/portail/display.jsp?id=c_272355
http://www.has-sante.fr/portail/display.jsp?id=c_464134
http://www.has-sante.fr/portail/display.jsp?id=c_268041
2004
France
French
hemochromatosis
genetic testing
hemochromatosis
france
genetic testing
hemochromatosis
mass screening
mass screening
health technology assessment
economic evaluation

---
http://www.health.belgium.be/fr/avis-ndeg-32-la-libre-disposition-des-tests-genetiques
2004
false
false
Belgium
French
genetic testing
genetic testing
cytogenetic analysis
cytogenetic analysis
cytogenetic analysis
self care
self care
device approval
genetic privacy
genetic privacy
belgium
genetic services
genetics, medical
codes of ethics
guideline

---
http://www.ccne-ethique.fr/sites/default/files/2021-02/avis076.pdf
2003
France
French
genetic testing
genetic testing
genetic privacy
truth disclosure
genetic privacy
genetic diseases, inborn
genetic diseases, inborn
genetic diseases, inborn
confidentiality
physician-patient relations
informed consent
physician's role
duty to warn
family
patient rights
guidelines

---
http://www.health.belgium.be/fr/avis-ndeg-25-depistage-des-anomalies-congenitales-metaboliques
http://www.health.belgium.be/sites/default/files/uploads/fields/fpshealth_theme_file/7968406/Avis%20n%C2%B025%20du%2017%20novembre%202003%20relatif%20%C3%A0%20la%20dur%C3%A9e%20de%20conservation%20des%20fiches%20de%20sang%20et%20la%20confidentialit%C3%A9%20des%20donn%C3%A9es%20concernant%20le%20d%C3%A9pistage%20des%20anom.pdf
2003
false
false
Belgium
French
congenital, hereditary, and neonatal diseases and abnormalities
preservation, biological
genetic testing
informed consent
databases, genetic
databases, genetic
genetic privacy
belgium
infant
codes of ethics
guideline

---
http://www.health.belgium.be/fr/avis-ndeg-20-tests-genetiques-predictifs-et-tests-hiv-dans-les-relations-de-travail
http://www.health.belgium.be/sites/default/files/uploads/fields/fpshealth_theme_file/7966431/Avis%20n%C2%B020%20du%2018%20novembre%202002%20relatif%20aux%20tests%20g%C3%A9n%C3%A9tiques%20pr%C3%A9dictifs%20et%20tests%20HIV%20dans%20le%20cadre%20des%20relations%20de%20travail.pdf
2002
false
false
Belgium
French
occupational medicine
belgium
genetic predisposition to disease
genetic testing
predictive value of tests
genetic testing
genetic testing
huntington disease
huntington disease
neoplastic syndromes, hereditary
neoplastic syndromes, hereditary
genetic diseases, inborn
work
acquired immunodeficiency syndrome
hiv infections
hiv infections
acquired immunodeficiency syndrome
hiv infections
acquired immunodeficiency syndrome
hiv infections
acquired immunodeficiency syndrome
hiv infections
acquired immunodeficiency syndrome
hiv infections
acquired immunodeficiency syndrome
truth disclosure
mass screening
personnel selection
physical examination
work
informed consent
duty to warn
genetic testing
confidentiality
genetic testing
prejudice
personnel selection
codes of ethics
guideline

---
http://www.health.gov.on.ca/fr/common/ministry/publications/reports/geneticsrep01/genetic_reportf.pdf
2001
true
Canada
French
genetic techniques
genetic enhancement
genetic testing
genetic testing
risk assessment
genetic services
genetic testing
health education
genome, human
genetics, medical
genetic diseases, inborn
child
adult
risk factors
genetic therapy
human genome project
pharmacogenetics
delivery of health care
public opinion
regional medical programs
regional medical programs
financing, organized
genetic counseling
genetic testing
education, medical, continuing
total quality management
patents as topic
genetic privacy
adolescent
genetic techniques
advisory committees
genetic counseling
genetic diseases, inborn
technical report
health policy guidelines

---
http://www.has-sante.fr/portail/display.jsp?id=c_272100
1999
false
false
France
French
hemochromatosis
hemochromatosis
hemochromatosis
france
signs and symptoms
risk factors
genetic testing
mass screening
hemochromatosis
economic evaluation
health technology assessment
treatment outcome

---
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24/05/2025


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