Workpackage 8 Best Practice Guidelines for Provision of Clinical Genetic Service.

One of the goals of the EuroGentest NoE over the years 2004-2009 has been to develop and implement harmonised guidelines and other tools to help service providers and also those outside the clinical/medical genetics community to provide high quality service for the patients. However there is a plethora of ways in how service is provided in the different EU countries, and in order to find the optimal interaction between families and patients, GPs, clinical genetic specialists, laboratory geneticists and non-genetic clinical specialists, there is a need for guidance on how to best develop the ideal patient provider relationship in relation to clinical genetic settings. We know from the results of the GenEd project ( funded under an accompanying measure of the 5th Framework programme of the European Commission that, among non-genetic specialists, education and training in clinical genetics is rudimentary and that doctors and midwives want to be better educated, and also that they were not always familiar with how to find information. Furthermore, as the number of questions related to genetics (and common diseases) increases, non-genetic clinical specialists need to attune their activities to clinical genetic experts as well as laboratory geneticists. Personalized medicine promises to individualize care for not only (genetic) patients, but also people at (genetic) risk, which will further increase the workload.

There is a need to develop standard operational procedures (SOPs) for genetic service provision to guide the medical profession. The aim is to describe the optimal interaction between (genetic) patients and their families and the medical profession such as GPs, midwives, or non-genetic specialists and how they can interact with the clinical genetic professionals, NGOs and other stakeholders to deliver the best possible care.

The aim is to bridge the gap between other activities of this project such as clinical utility gene cards, laboratory guidelines and patients’ expectations. Collaboration with the project GenTEE (Genetic Testing in Emerging Economies, an action initiated by P12, P17 and A2) and with the EU JRC IHCP will provide an opportunity to help clinical geneticists in emerging economies to create an infrastructure where clinical genetics is early on integrated into the health care system.

Some examples of these gaps and questions are: What are the requirements for communicating clinical genetic data from a lab specialist to a non-genetic specialist? What knowledge and training is needed by the lab geneticist and what by the non-genetic clinician? What are the requirements to provide genetic counselling to a patient with regard to different clinical settings, prenatal counselling for a rare recessive disorders vs. cancer genetic counselling? How shall counselling guidelines be translated from the diagnostic setting to the setting of predicting risk and individualizing preventive interventions?

The work will be guided by a small expert group consisting of 4-6 persons plus researcher and WP leaders. An advisory group consisting of stakeholders with in the broad field of genetics in medicine will be invited to follow and comment on the project.


WPLeader: Ulf Kristoffersson

Participants: Martina Cornel, J. Sequeiros

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