Workpackage 5 Clinical Utility Gene Cards (CUGC)

Ideally, the following components should be considered when the clinical utility of a genetic test needs to be assessed: (1) The natural history of the disease, if known, should be considered so that testing and intervention can be properly timed. (2) Interventions that might follow a positive test result should be effective and available. (3) Qualified pre-test, test, and post-test measures, including appropriate consent processes and genetic counselling, should be in place when needed. (4) Health risks associated with testing and interventions following positive and negative test results as well as with not testing should be considered. (5) Financial costs and benefits of testing should be evaluated. (6) Testing services should provide educational materials, access to genetic counselling, and maintain surveillance over their activities.

Based on an initiative of the German Society of Human Genetics, a template for assessing and describing “indication criteria for genetic testing” was developed, and a series of corresponding guidelines was published on the website of the German Society (http://www.gfhev.de/de/leitlinien/Diagnostik_LL.htm). EuroGentest decided to re-locate this activity to the European level. In a first step, the German guidelines, in an English translation, were temporarily placed on the EuroGentest website (www.eurogentest.org), ESHG (www.eshg.org ) and Orphanet (www.orpha.net ) websites, inviting for general and specific commentaries from the scientific community. In a second step, presented from 2010 onwards in the European Journal of Human Genetics, the guidelines have been re-edited and referenced by a number of European experts; the guidelines are now being referred to as “Clinical Utility Gene Cards (CUGCs)”. While the CUGCs can claim to represent the state of the art at the time of publication, the rapid medico-scientific progress in this field will require regular updates, a service that is intended to be provided on the basis of the current grant application. Furthermore, the collection of CUGCs is intended to be much expanded for disease conditions not yet covered.

As of 2010, every CUGC is becoming a citable publication in the European Journal of Human Genetics, which is likely to be a strong incentive to potential authors to contribute. EuroGentest2 will coordinate and further promote this activity. An important tool will be the development of an editorial management system.

 

WPLeader: Joerg Schmidtke

Participants: Ulf Kristoffersson

The full list of CUGC's can be found here.

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