Italian geneticists call for uniform access to new healthcare screenings

The Italian Society of Human Genetics (Sigu) has highlighted the importance of new genetic screenings included in the Essential Levels of Care (Lea). These updates include prenatal and neonatal screenings, as well as tests for hereditary cancer predispositions, such as breast cancer.

During a congress in Rimini, medical experts Antonio Novelli from Bambino Gesù Hospital and Sabrina Giglio from San Raffaele Hospital emphasized that while these additions represent a significant step forward for Italy, the primary challenge remains ensuring uniform access across all regions. Experts are calling on regional authorities to organize and implement these services to prevent disparities in healthcare delivery.

Specific advancements include the inclusion of Non-Invasive Prenatal Testing (Nipt) for pregnancies with an increased risk of chromosomal abnormalities, and the potential for exome and genome studies to investigate rare genetic diseases.