Clinical utility gene card for: Hereditary diffuse gastric cancer (HDGC)

The Clinical utility gene card for Hereditary diffuse gastric cancer (HDGC) is a paper with practical information for all people interested in this syndrome, but mainly for clinicians and genetic counselors involved in following families with this syndrome, molecular biologists and geneticists setting up genetic testing and interpreting results of a genetic test, as well as multidisciplinary teams performing post-testing management and counseling of HDGC families.

The paper results from collaboration between IPATMUP researchers and Dutch researchers deeply involved in the molecular study and management of HDGC patients. This paper encloses a detailed description of the HDGC syndrome in terms of molecular genetics and epidemiology. It describes all fundamental information on molecular features, syndrome spectrum, available therapy, management options, prophylactic procedures and strict guidelines to deal with mutation carries and non-carriers within HDGC families.

Clinical utility gene cards (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. Information source: http://www.eurogentest.org/index.php?id=668

Autores e afiliações:

Carla Oliveira (1,2), Raquel Seruca (2,3), Nicoline Hoobrugge (4), Marjolijn Ligtenberg (4,5) and Fátima Carneiro (2,3,6)

¹ Expression Regulation in Cancer Group, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal

Revista:

European Journal of Human Genetics

Link:

http://www.nature.com/ejhg/journal/v21/n8/full/ejhg2012247a.html