Preliminary Announcement

EQUAL Training Course Rome (Italy)

Venue

Scientific sessions
Istituto Superiore di Sanità
Viale Regina Elena, 299
00161, Rome

Practical activities
Department of Cell Biology and Neurosciences
Istituto Superiore di Sanità
Viale Regina Elena, 299-00161 Rome
Date

November 21-23, 2005
Scientific Coordinator Dr. Domenica Taruscio,
National Centre Rare Diseases,
Dept. of Cell Biology and Neurosciences,
Istituto Superiore di Sanità, Rome - Italy
General Information of the Training Course The course will provide an overview of all aspects of genetic testing. A combination of didactic lectures, given by experts, covers the aspects concerning: the appropriate use of genetic tests in clinical practice, ethical and legal issue associated with genetic testing and counselling.
Practical activities will be reserved to participants in the EQUAL-qual programme.
Scientific topics

The use and the development of genetic tests is expanding in all European countries. Genetic tests identify a person’s genotype and their results can be used to prevent the onset of diseases or to assure early detection and treatment, or to make reproductive decisions.
Genetic testing is now available for the main cancer susceptibility genes in which rare mutations predispose to uncommon inherited cancer syndromes, such as hereditary breast and ovarian cancer, hereditary non polyposis colon cancer and familial adenomatous polyposis. Diagnostic tests for monogenetic disorders indicate if the person has or will have the disease and value if other family members are at risk for the same condition.
Genetic tests differ from all other clinical investigations having an impact far beyond the health of one individual. The receipt of genetic information can have an enormous and unpredictable impact on the individual tested, to the family and across generations.
In particular this course will address the following topics:

  • genetic testing in clinical practise
  • genetic counselling
  • quality control programs in genetic testing
  • thalassaemia and familial adenomatous Polyposis gene testing
Practical activities

For EQUAL participants only

The main aim of the EQUAL Training Course in Rome is the revision of the actions of the EQUAL-qual Programme and the discussion of the results of this survey.
8 hours of the Rome EQUAL-qual Training Course will be dedicated to laboratory activities.
The methodological skills required to improve analytical performance of the EQUAL-qual Programme will be reviewed during the Course and then tested allowing the participants to perform for the second time the EQUAL-qual Programme.
Comparison of the results after training will be used to judge the efficacy of the Course.
A specifically defined questionnaire will be also distributed to the participants at the end of the Course.
Scientific Programme
21 November 2005
 
9.00-9.20
 Domenica Taruscio, Rome: Introduction
 
9.20-9.40
 P. Pinzani, M. Pazzagli, Florence: The Equal Project
 
9.40-10.10
 Bruno Dallapiccola, Rome: Genetic Testing in Clinical Practice
 
10.10-10.55
 S. Patton: Quality Control in genetic testing diagnostic laboratories
 
Coffee break
 
11.15-12.00
 Giuseppe Novelli, Rome: Molecular diagnostics: present and future
 
12.15-12.45
 A. Ferlini, Ferrara: Genetic Counselling
 
Lunch
 
14.00-15.00
 A. Ravani, Ferrara: Thalassaemia: Genetic Testing
 
Coffee Break
 
15.30-16.30
 A. Stella, Bari: Familial Adenomatous Polyposis: APC gene test
 
Social event
22 November 2005
 
09.00-9.30
 R. Maatman, J. Dannenberg: The external quality assessment scheme in Netherlandss
 
9.45-10.15
 R. Maatman, J.Dannenberg: Introduction to practical activities
  10.30-12.30 Practical activities: To Isolate DNA from samples
 
Lunch
 
14.00-15.00
 Practical Activities: To determine the quality and quantity of DNA samples
 
15.00-16.30
 Practical Activities: To perform PCR on DNA samples
 
16.30-17.30
 Discussion
23 November 2005
 
09.00-10.30
 To analyse PCR reaction products
 
Coffee Break
 
11.00-12.00
 Round table: Domenica Taruscio, Vincenzo Falbo,Giovanna Floridia (Rome), Critical Revision of the Practical Activities and general discussion
 
12.00-12.30
 Filling the Questionnaire
 
12.30-13.00
 Conclusions
 
Lunch
Registration Form
(no registration fee)		 Do you want to register as an EQUAL- qual participant? click here
Do you want to register as a non-EQUAL participant? click here
Contact us: Dr. Domenica Taruscio
National Centre Rare Diseases
Department of Cell Biology and Neurosciences
Istituto Superiore di Sanità
Viale Regina Elena, 299
00161, Rome, Italy
taruscio@iss.it