SESSION VIHVP Country NodesThursday 2nd June

ItalyDomenico Coviello, MD, PhD Società Italiana di Genetica Umana (SIGU)Italian Society of Human Genetics

Italy: a snapshot

• Genetic services: in the 2011 survey 268 macrostructures are hosting 517 services and employing 3246 persons) (Giardino et al. BMC Health Services Research (2016) 16:96, Survey of medical genetic services in Italy: 2011)

• Genetic diagnostic laboratories: 198 • Clinicians: approx. 200 • Genetic Nurse and Counselors: 1+1 European Board of Medical Genetics –

EBMG- certified; about 20 in practice. This profession is not yet recognized in Italy by the NHS. Counseling is performed mainly by the clinicians or for the pre-test info & discussion by genetic biologists.

• Genetic testing & genetic healthcare services: Genetic healthcare services are provided by the national health system. There are also private laboratories. Currently, NIPT is only provided by the private labs.

• National Human Genetics Society: Società Italiana di Genetica Umana – SIGU (http://sigu.net); President: Prof. Antonio Amoroso; Next meeting: Turin, 23-25 November 2016

HVP Country Node: Organization

• Year established: 2014• Structure:

– Steering committee including 4 SIGU and HVP members• Funding:

– None available• Links with NHGS:

– Endorsed by SIGU and included in its official activities• Ethical framework, privacy, consent:

– not yet specifically established; for the diagnostic activity we have national recommendations and a national authority for privacy

HVP Country Node: Technical

• National data repository: – not yet available; work in progress

• Data available nationally: – no, only locally or on few project also multi regional

• Data available internationally: – No national system, only few lab share data internationally

• Available:– Data Collection Policy: No– Collection Agreement: No– Data Access Policy: No– Data Ownership Policy: No

Progress, Plans and Problems

• Progress in the past 12 months:– Contact with the National Computing interuniversity Consortium

(CINECA) to build up the national website – Contact with LOVD to install the software in the Italian node– Presentation at the national meeting to disseminate HVP policy

• Plan for the next 12 months:– Establish a consortium among the institutions of the 4 steering

committee members as a prerequisite for the formalization of collaboration with CINECA. This will be open to any other centre who will want to participate thereafter

• Problems/barriers we face:– Financial and administrative support lacking– Difficulties in getting all professional sharing tools and knowledge

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Galliera hospital in GenoaThank you for your attention