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Clinical utility gene cards
Unit 2 of the EuroGentest2 initiative commissions the establishment as well as the annual update of the Clinical utility gene cards (CUGCs). CUGCs are disease-specific guidelines regarding the clinical utility of genetic testing. Clinical utility refers to the ability of a genetic test to significantly affect the clinical setting and patient outcome. CUGCs cover all elements relevant for assessing risks and benefits of genetic test application. Due to their clear and concise format, they enable quick guidance to all stakeholders, including clinicians, geneticists, referrers, service providers and payers.
Each CUGC is authored by an international expert team. Potential authors are identified based on their publication record and practical experience. Subsequent to peer-review, the documents are published in the European Journal of Human Genetics (EJHG). All published documents are freely available on the websites of the EJHG and EuroGentest.
Due to the underlying concept, the ACCE framework, the main components of the CUGCs are analytical validity, clinical validity, clinical utility and ethical, legal and social issues. A major challenge is to balance clinical validity, clinical utility and cost-benefit issues: In some cases a test is performing superbly in the laboratory, but is not viable from the clinical or economical point of view. On the other hand some tests are limited in their validity, but nevertheless have great impact on patient and family management. Therefore it is important that the requirements for a test are defined in the context of their impact on the clinical setting and that the laboratory genetic test is only one of the components of an overall evaluation.
The clinical and genetic community is invited to submit proposals to EuroGentest to cover a particular disease. Please contact .
Further information:
Javaher et al., "EuroGentest: DNA-based testing for heritable disorders in Europe": www.ncbi.nlm.nih.gov/pubmed/18204250
Schmidtke and Cassiman, "The EuroGentest Clinical Utility Gene Cards": www.ncbi.nlm.nih.gov/pmc/articles/PMC2987427/?tool=pubmed
Pubmed search for CUGC's: www.ncbi.nlm.nih.gov/pubmed?term=EJHG%20clinical%20utility%20gene%20card
CUGC disease list
Download the CUGC disease list
Available CUGC
EJHG = Published in EJHG
| EJHG | Disease | Link | Date published |
|---|---|---|---|
| EJHG | 3M syndrome |
Download
|
2011 Mar 2 |
| EJHG | α-1-antitrypsin deficiency |
Download
|
2011 May |
| EJHG | α-Mannosidosis |
Download
|
2011 Jul |
| EJHG | Aarskog-Scott syndrome (faciogenital dysplasia) |
Download
|
2011 Jun 8 |
| EJHG | Acrodermatitis enteropathica NEW |
Download
|
2011 Dec14 |
| EJHG | Achromatopsia |
Download
|
2011 Jun |
| EJHG | Adrenoleukodystrophy (ALD) |
Download
|
2011 Nov |
| EJHG | Alport syndrome NEW |
Download
|
2011 Dec 14 |
| EJHG | Alström syndrome |
Download
|
2011 Apr 27 |
| EJHG | Alveolar rhabdomyosarcoma |
Download
|
2011 Aug 10 |
|
|
Angelman-Syndrome (UBE3A) |
Indication criteria-AS
|
|
| EJHG | Axenfeld-Rieger syndrome |
Download
|
2010 Oct 13 |
| EJHG | Bardet-Biedl syndrome |
Download
|
2010 Dec 8 |
| EJHG |
BEST1-related dystrophies (Bestrophinopathies) NEW |
Download
|
2012 Jan 11 |
| EJHG | Blue cone monochromatism |
Download
|
2011 Jun |
| EJHG | Central core disease |
Download
|
2011 Oct 12 |
| EJHG | CHARGE syndrome |
Download
|
2011 Mar 16 |
|
|
Complete Androgen insensitivity (CAIS) (AR) |
Indication criteria-CAIS
|
|
|
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Cranio-fronto-nasal syndrome (CFNS) (EFNB1) |
Indication criteria-CFNS
|
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| EJHG | Cystinuria |
Download
|
2011 Aug 24 |
| EJHG | Deletion 22q13 syndrome |
Download
|
2010 Dec 8 |
| EJHG | Diamond Blackfan anemia |
Download
|
2011 May |
| EJHG | DiGeorge syndrome, Velocardio-facial syndrome 2, Shprintzen syndrome (22q11.2, TBX1 ; 10p13-p14) |
Download
|
2010 Sep |
|
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Duchenne muscular dystrophy (DMD) (Dystrophin) |
Indication criteria-DMD
|
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| EJHG | Dyskeratosis congenita |
Download
|
2011 May 25 |
| EJHG | Ehlers-Danlos syndrome types I-VII |
Download
|
2010 Sep |
| EJHG | Fabry disease |
Download
|
2011 Sep 21 |
| EJHG | Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) |
Download
|
2011 Jul |
|
|
Familial breast/ovary cancer [BRCA1/BRCA2] |
Indication criteria - BRCA
|
|
| EJHG |
Familial erythrocytosis NEW |
Download
|
2012 Jan 25 |
| EJHG |
Fragile X mental retardation syndrome, fragile X-associated |
Download
|
2011 May 4 |
|
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Friedreich ataxia (FRDA) [FXN] |
Indication criteria-FRDA
|
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| EJHG | Gitelman syndrome |
Download
|
2011 Feb 23 |
| EJHG | Gorlin syndrome |
Download
|
2011 Feb 9 |
| EJHG | Haemophilia A |
Download
|
2011 Jun 8 |
| EJHG |
Haemophilia B NEW |
Download
|
2012 Jan 25 |
| EJHG | Hemochromatosis [HFE] |
Download
|
2010 Sep |
|
|
Hereditary hemorrhagic teleangiectasia / Osler-Rendu-Weber disease (HHT) [ENG, ACVRL1 (ALK1)] |
Indication criteria-Osler
|
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| EJHG | HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP. |
Download
|
2010 Sep |
| EJHG | HNPCC [MLH1, MSH2, MSH6, PMS2] |
Download
|
2010 Sep |
| EJHG | Holoprosencephaly |
Download
|
2011 Jul 21 |
|
|
Huntington disease, Chorea Huntington [HD] |
Indication criteria-HD
|
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| EJHG | Hypertrophic cardiomyopathy (type 1-14) |
Download
|
2011 Jan 26 |
| EJHG | Hypophosphatasia |
Download
|
2011 Mar |
| EJHG | Joubert syndrome |
Download
|
2011 Mar 30 |
| EJHG | Laing distal myopathy |
Download
|
2010 Dec 8 |
| EJHG | Lesch-Nyhan syndrome |
Download
|
|
| EJHG | Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes |
Download
|
2011 Apr 27 |
| EJHG | Malignant hyperthermia |
Download
|
2011 Jun |
| EJHG | Marfan-syndrome (Type 1) [FBN1] |
Download
|
2010 Sep |
| EJHG | Mayer-Rokitansky-Küster-Hauser syndrome |
Download
|
2011 Sep 7 |
| EJHG | Meckel syndrome |
Download
|
2011 Jul |
| EJHG | Menkes disease |
Download
|
2011 Apr 13 |
| EJHG | Mowat-Wilson syndrome |
Download
|
2011 Feb 23 |
|
|
Mucopolysaccharidosis type II |
Indication criteria - MPSII
|
|
| EJHG | Mucopolysaccharidosis type II |
Download
|
2011 Aug 24 |
| EJHG | Multi-minicore disease |
Download
|
2011 Oct 19 |
| EJHG | Multiple endocrine neoplasia type 2 |
Download
|
2011 Aug 24 |
| EJHG | MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis. |
Download
|
2010 Sep |
|
|
Myotonic dystrophy type 1 (DM1) (DMPK) |
Indication criteria-DM1
|
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|
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Myotonic dystrophy type 2 (DM2) (ZNF9) |
Indication criteria-DM2
|
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|
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Non-obstructive azoospermia, severe oligozoospermia (AZFa, AZFb, AZFc) |
Indication criteria-AZF
|
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|
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Noonan syndrome [PTPN11, SOS1, RAF1, KRAS] |
Indication criteria - Noonan
|
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| EJHG | Phenylketonuria |
Download
|
2011 Sep 14 |
|
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Prader-Willi syndrome [SNRPN] |
Indication criteria-PWS
|
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| EJHG | Renal coloboma (Papillorenal) syndrome |
Download
|
2011 Feb 16 |
| EJHG | Retinoblastoma |
Download
|
2010 Dec 8 |
| EJHG | Silver-Russell syndrome |
Download
|
2010 Dec 8 |
|
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Spinal muscular atrophy type I-IV [SMN1] |
Download - SMA
|
|
|
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Tuberous sclerosis (TSC) [TSC1, TSC2] |
Download - TSC
|
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| EJHG | Trimethylaminuria |
Download
|
2011 Nov 30 |
|
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Type I (classic) Lissencephaly |
Indication criteria - Lissencephaly
|
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| EJHG | Usher syndrome |
Download
|
2011 Mar 9 |
| EJHG | von Willebrand disease |
Download
|
2011 Jan 5 |
| EJHG | WAGR syndrome |
Download
|
2011 Apr |
| EJHG |
Werner syndrome NEW |
Download
|
2012 Jan 18 |
|
|
Williams-Beuren syndrome [7q11.23; ELN, LIMK1,GTF2I] |
Download - WBS
|
|
| EJHG | Wolf-Hirschhorn (4p-) syndrome |
Download
|
2010 Dec 8 |
|
|
XY type gonadal dysgenesis criteria |
Indication criteria-XY-GonadDysgen
|
Last changed: 2012-01-31
