Summary for Unit 2: “Genetic testing as part of Health Care”

The process of genetic testing involves setting the correct indications for a pre-test, test counselling and consenting to the test, taking and sending the sample with adequate clinical information, performing correctly high quality tests and interpreting the result to the clinicians, high quality test counselling and the other post-test actions like informing relatives and organizing possible follow up. The process must also involve contributions to fair reimbursement policies and take into account limited resources in health care (third party payers) and thus develop priorities for implementation.

Unit 2 Objectives

EuroGentest2 will promote and coordinate the generation of “Clinical Utility Gene Cards”, which aim at creating and updating evaluations of individual genetic tests focusing on their utility in clinical work, and spreading them efficiently for the use of clinicians in Europe and elsewhere. As a complement, it provides recommendations for prioritizing clinical genetic services, based on participative and transparent deliberation of different stakeholders on acceptable criteria for prioritization of genetic tests. Building on the guidelines for genetic counselling that were prepared previously in EuroGentest1, EuroGentest2 will expand the work in the direction of pre-implantation genetic testing (PGD), non-invasive prenatal testing (NIPD) and direct to consumer testing (DTC). The work will be integrated with the efforts which have been initiated by ESHRE (European Society of Human Reproduction and Embryology) for PGD and by the SAFE NoE for NIPD. Also, Eurogentest2 wants to find models and create guidelines on how to optimize interaction between families and patients, GPs, clinical genetic specialists, laboratory geneticists and non-genetic clinical specialists.

Work packages

Work package 5 Clinical Utility Gene Cards

Work package 6 Priority setting in genetic testing

Work package 7 Quality in genetic counselling

Work package 8 Best Practice guidelines for provision of Clinical Genetic Service



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Center for Human Genetics
University of Leuven
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Copyright EuroGentest2 Coordination Action 2011 - EU Contract no.: FP7 - HEALTH-F4-2010-261469