Genetic testing in Italy, year 2004

Area of Science:

• Human Genetics
• Clinical Diagnostics
• Public Health Policy

Background:

• Long-term monitoring of genetic testing in Italy since 1987.
• 2004 survey data from 256 structures, including 88 clinical centers and 160 cytogenetic/183 molecular labs.
• Only 42% of facilities met current Italian legislative requirements.

Purpose of the Study:

• To assess the status of genetic testing activities in Italy in 2004.
• To identify trends in cytogenetic and molecular genetic test utilization.
• To evaluate the integration of genetic counseling with testing services.

Main Methods:

• Analysis of data from a national survey of genetic testing facilities.
• Quantification of cytogenetic and molecular genetic tests performed.
• Assessment of gene-specific testing frequencies and prenatal vs. postnatal distribution.

Main Results:

• 283,601 cytogenetic analyses and 190,610 molecular genetic tests were reported.
• Significant north-to-south decreasing gradient observed in all genetic testing activities.
• CFTR gene analysis was prominent (23% prenatal, 29% postnatal); 10 genes accounted for 75% of molecular tests.
• Demand for cytogenetic tests doubled and molecular tests quadrupled between 1997-2004.
• Genetic counseling followed only 16% of cytogenetic and 12.5% of molecular tests.

Conclusions:

• Urgent need for organizational reform of Italian genetic services to align with national guidelines.
• Necessity for continuous training of general practitioners on genetic testing.
• Importance of consumer education regarding the appropriate use of genetic testing.