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 - updated March 28 2012

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	Abetalipoproteinaemia NEW	Download	2012 Feb 29
EJHG	Achromatopsia	Download	2011 Jun
EJHG	Acrodermatitis enteropathica	Download	2011 Dec14
EJHG	Adrenoleukodystrophy (ALD)	Download	2011 Nov
EJHG	Alport syndrome	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)	Download	2012 Jan 11
EJHG	Biotinidase deficiency NEW	Download	2012 Feb 29
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
	Cranio-fronto-nasal syndrome (CFNS) (EFNB1)	Indication criteria-CFNS
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
	Duchenne muscular dystrophy (DMD) (Dystrophin)	Indication criteria-DMD
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	Download	2012 Jan 25
EJHG	Fragile X mental retardation syndrome, fragile X-associated	Download	2011 May 4
	Friedreich ataxia (FRDA) [FXN]	Indication criteria-FRDA
EJHG	Gitelman syndrome	Download	2011 Feb 23
EJHG	Gorlin syndrome	Download	2011 Feb 9
EJHG	Haemochromatosis [HFE]	Download	2010 Sep
EJHG	Haemophilia A	Download	2011 Jun 8
EJHG	Haemophilia B	Download	2012 Jan 25
	Hereditary hemorrhagic teleangiectasia / Osler-Rendu-Weber disease (HHT) [ENG, ACVRL1 (ALK1)]	Indication criteria-Osler
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
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
EJHG	Mucopolysaccharidosis type II	Download	2011 Aug 24
	Mucopolysaccharidosis type IV	Indication criteria - MPSIV
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
	Myotonic dystrophy type 2 (DM2) (ZNF9)	Indication criteria-DM2
EJHG	Nemaline myopathy NEW	Download	2012 Apr 18
	Non-obstructive azoospermia, severe oligozoospermia (AZFa, AZFb, AZFc)	Indication criteria-AZF
	Noonan syndrome [PTPN11, SOS1, RAF1, KRAS]	Indication criteria - Noonan
EJHG	Phenylketonuria	Download	2011 Sep 14
	Prader-Willi syndrome [SNRPN]	Indication criteria-PWS
EJHG	Proximal spinal muscular atrophy NEW	Download	2012 Apr 18
EJHG	Renal coloboma (Papillorenal) syndrome	Download	2011 Feb 16
EJHG	Retinoblastoma	Download	2010 Dec 8
EJHG	Silver-Russell syndrome	Download	2010 Dec 8
	Spinal muscular atrophy type I-IV [SMN1]	Download - SMA
EJHG	Trimethylaminuria	Download	2011 Nov 30
	Tuberous sclerosis (TSC) [TSC1, TSC2]	Download - TSC
	Type I (classic) Lissencephaly	Indication criteria - Lissencephaly
EJHG	Usher syndrome	Download	2011 Mar 9
EJHG	von Willebrand disease	Download	2011 Jan 5
EJHG	WAGR syndrome	Download	2011 Apr
EJHG	Werner syndrome	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: 2012-04-26