Hereditary Breast Cancer Genetic Testing in Italy: Advancements, Technology & Public Health Impact

DNA Today, an award-winning genetics podcast hosted by certified genetic counselor Kira Dineen, explores how hereditary breast cancer is being approached in Italy’s public health system. In this episode, two experts from Nòlab and MGI Tech break down the growing role of genetic testing, next-generation sequencing (NGS), and population-level screening.

Understanding Hereditary Breast Cancer

While most cancers are triggered by environmental and lifestyle factors, around 10% of breast cancers are hereditary. In Italy alone:

• 55,000 people are diagnosed with breast cancer annually

• At least 6,000 cases are attributed to hereditary causes

Inherited variants in DNA-repair genes, such as BRCA1, BRCA2, CHEK2, PALB2, and ATM, significantly increase lifetime risk. When these genes don’t function properly, damaged DNA is not repaired efficiently, raising cancer susceptibility.

Why Genetic Testing Matters in Italy

Italy’s public health system has long relied on mammography screening, which reduces mortality by about 30%. However, experts note that NGS-based genetic testing can detect risk earlier, allowing:

• Earlier breast cancer screening (before age 50)

• More frequent monitoring for high-risk individuals

• Better prevention and precision-driven care

• Informed decision-making for family members

This shift aligns with the global move toward precision medicine and personalized prevention.

The 5 Key Genes in the Italian Hereditary Breast Cancer Panel

The panel developed by Negedia and MGI Tech focuses on the top genes associated with hereditary breast and ovarian cancer:

1. BRCA1

2. BRCA2

3. CHEK2

4. PALB2

5. ATM

These genes account for a significant portion of hereditary cases and also impact risk for prostate, pancreatic, and other cancers.

The test sequences:

• All exons (protein-coding regions)

• Important noncoding regions

• Splice sites essential for gene function

This leads to more comprehensive and accurate detection than older hotspot-based tests.

MGI Tech’s NGS Technology: Accurate, Scalable, and Cost-Effective

MGI’s DNBSEQ technology provides:

• High accuracy, crucial for detecting single-nucleotide variants

• Low duplication rates, improving data quality

• Scalability, enabling large numbers of samples to be processed

• Lower costs, making integration into national healthcare systems feasible

MGI’s T7 sequencer allows simultaneous high-throughput sequencing, reducing turnaround time and improving accessibility.

Interpreting Genetic Variants: Better Databases, Better Answers

With more sequencing data coming from Italian populations, variant interpretation becomes increasingly accurate. Experts highlight:

• Growing global databases (ClinVar, gnomAD)

• Improving Italian-specific variant data

• AI-enhanced variant classification

• Reduced uncertainty around VUS (variants of uncertain significance)

This benefits not only Italy but other regions with similar ancestry patterns.

How Testing Is Accessed in Italy

Like in the U.S., genetic testing typically requires:

• Referral to a medical geneticist

• Pre-test counseling

• Post-test counseling to interpret results

General practitioners do not yet order these tests directly.

Is Italy Moving Toward Population-Wide Genetic Screening?

Experts believe the future may include population-based hereditary cancer screening, similar to universal mammography. However, to scale successfully, Italy must:

• Ensure affordable sequencing

• Build large-scale NGS infrastructure

• Train clinicians in precision medicine

• Maintain strong genetic counseling support

Pilot studies are already underway to evaluate the benefits of screening healthy individuals for these five major genes.

Key Takeaways

• Hereditary breast cancer is significant, affecting roughly 10% of cases.

• NGS technology is making genetic testing more accurate, affordable, and scalable.

• The Italian hereditary panel focuses on BRCA1, BRCA2, CHEK2, PALB2, and ATM—the most clinically actionable genes.

• MGI and Negedia are expanding access to precision cancer genetics in Italy.

• Population-wide testing may be the next major step in breast cancer prevention.