Conclusions and recommendations on deficits and needs 

Strengths and weaknesses in individual countries were focused on in 

1. short presentations by each National Representative
2. a presentation on "needs assessment and review of IMD services in the UK" by Anne Green, Birmingham
3. interactive work in five groups, the conclusions of which were presented in plenum.

The five groups were constituted as follows 

1	2	3	4	5
Anne Green  UK	Leo -Spaapen  The Netherlands	Elisabeth Holme Sweden	Christine Saban France	Ernst Christensen Denmark
Jim Bonham, UK	Ounap Katrin Estonia	Francois Baudouin Belgium	Claus-Dieter Langhans Germany	Mojca Zerjav-Tansek, Slovenia
Kari Pulkki, Finland	Gradowska Wanda   Poland	Pospisilova Eva Czech Republic	Antonia Ribes Spain	Helen Michelakakis, Greece
Charles Turner, UK	Silva M.M. Portugal	Hoffmann J-P Luxembourg	Jurgita Songailiene Lithuania	Amelie Morrone, Italy
Darina Behulova, Slovakia	Walsh Richard Ireland	Vevere Parsala Latvia	Schuler Agnes Hungary
Olaf Bodamer, Austria
Anthi Drousiotou, Cyprus

The conclusions from the groups together are as follows 

1. The need for networking within a country and between countries, particularly for smaller countries. Clustering of laboratory tests, sharing of samples and backup arrangements are needed. This could be geographically based but also shared language would be useful.
2. The need for rationalising tests if workloads are very low.
3. The small number of patients with individual disorders in the small EU 25 countries e.g. Estonia and Poland causes difficulty in gaining experience in recognition and diagnostic proficiency.
4. A test repertoire , i.e. a minimum set of tests for centres needs to be defined
5. Funding of services for diagnostic investigations and Quality Assurance is a problem in many countries (e.g Poland, Estonia, Portugal and Ireland). Reimbursement of fees for follow-up is an issue for Austria
6. Generally inherited metabolic diseases and therefore Biochemical Genetic Testing have a low position on the political agenda and there is a need to increase awareness.
7. There is concern about privatisation and it is suggested that the potential role of accreditation and use of standards might be used to defend/combat this.
8. The unavailability of training programmes for clinical and biochemical diagnostics (Poland, Estonia, Portugal and Ireland) and a general lack of interested people for the field of IEM to guarantee continuity of IEM-patient care in the future.
9. There is an obligation for laboratories to provide training to support the European initiative, particularly for the most well developed ones.
10. There is a lack of accreditation of laboratories in most countries.
11. There is lack of an umbrella organization in several individual countries with some notable exceptions.
12. There is a lack of communication between labs and among clinicians taking care of patients in some countries leading to lack of overview of facilities in some countries (e.g. France, Germany).
13. There is the need for national databases (register) of diagnoses, which should subsequently link into international ones. These could be modelled on those already started, e.g. in the UK (metbio.net) and Spain (REDEMETH).
14. A weakness in some countries, e.g. Spain can be territorial differences in the level of services different local screening programmes within a single country 

Recommendations to overcome deficits, especially focused on the EUGT project 

1. Define basic standards / minimum core requirements / test repertoires in relation to size of country. This could be based on a minimum number of samples, requests / tests per annum, taking into account the need for quality markers, e.g. turnaround time and the importance of gate keeping for specimens sent away.
2. Identification of clusters of countries/sharing where workloads are very low. Exchange visits and / or workshops for the particular groups of countries should be promoted by the Eurogentest project. 
3. Training initiatives for implementing new tests identified and potential role of Eurogentest to support and fund such initiatives. Eurogentest could promote initiatives for trainees to train in the more developed countries with some funding to support the training institution.  
4. Reference laboratories should be identified at both the national and international level with proposals for how should they be financed. 
5. Stimulation of accreditation of laboratories by a scoping exercise to evaluate present situation throughout Europe and then working to pull together the best / minimum recommendations.
6. The EQA schemes themselves need to achieve accreditation.
7. A survey of the scope of Metabolic Physician and Biochemist Training across Europe should be initiated. 
8. An Initiative similar to that taking place in the UK to scope the size of the problem, perhaps initially to collect data on number of patients with certain IMD disorders across Europe. 
9. Expansion of EQA so that quality assessment materials is made easily available including the provision of cell banks for biological material from patients. 
10. Establishment of National registers of diagnosed cases. EUGT/ERNDIM should work together with existing national organisations such as those in the UK, Germany, Spain and Italy. In the absence of a national structure we should initiate a European wide action to help remedy this deficit. 
11. Best Practice guidelines for methodology, minimum services and QA should be produced by ERNDIM/EUGT to provide the basis for local justification of increased budgets. The advised recommendations and issues should be a Directive of the European Commission. 

Last changed: 2008-02-05