This paper describes the telegenetics component of the SIGN project. Telegenetics is a subfield
of telemedicine applied to clinical genetics. In the SIGN project, telegenetics aims to provide remote genetic
services in the cross-border region of Italy and Slovenia. More specifically, the goal is to develop remote genetic
services in areas without them and to provide best expertise in clinical genetics without the need to travel
large distances (patients or professionals). The major telegenetics activities within the SIGN project are the
development of remote genetic services: for genetic counseling, for expert to expert communication, and for
communication between the partners of the project. To accomplish the activities, these major tasks had to
be done: testing and selection of video-conferencing equipment and software for secure data sharing and
exchange; development of work protocols; end-user education; installation, configuration and testing of
necessary hardware, software and developed protocols; and evaluation of user satisfaction (both patients
and genetic service providers). The preliminary evaluation results show promising user-satisfaction. They also
highlight areas where further improvement of the remote services is possible.
