Breast Cancer Genetic Testing in Italy: A Curated Gene Panel

On DNA Today, we spend a lot of time talking about genetic testing in the U.S., but what does this look like in other parts of the world? Since it’s Breast Cancer Awareness Month, we’re shifting our focus to Italy to explore how breast cancer genetic testing is being implemented there.

We’re joined by two expert guests:

Dr. Beatrice Salvatori, is a Scientist and Project Manager at Negedia, where she leads oncology-related projects and develops new research initiatives. With a PhD in Genetics and Molecular Biology, her career has spanned bioinformatics, breast cancer research, and now applying cutting-edge sequencing to expand access to hereditary cancer testing in Italy.

Dr. Javier Batista Perez is a DCS Specialist at MGI Tech. For those that don’t know, DCS stands for "DNA Sequencing", "Cell Omics", and "Spatial Omics". With expertise across biophysics, bioinformatics, and therapeutic design, Dr. Perez brings deep knowledge of how MGI’s sequencing technologies are being applied across Europe and how they’re shaping the future of precision medicine.

Topics Covered in This Episode
How lifestyle, environment, and genetics contribute to cancer risk
Why breast cancer genetic testing is a major public health priority in Italy
The five-gene panel (BRCA1, BRCA2, CHEK2, PALB2, ATM) designed for hereditary breast and ovarian cancer, and why these genes were chosen
How mutations (pathogenic variants) in these genes contribute to cancer risk
Why Negedia partnered with MGI Tech and what makes the technology innovative
Sequencing exons and select non-coding regions for more complete genetic risk analysis
How variant databases have expanded, improving interpretation and curation
The importance of cost-effectiveness in scaling genetic testing in national healthcare systems
Unique barriers Italian patients face compared to the U.S. in accessing genetic testing
The role of general practitioners vs. specialists in referrals for genetic testing in Italy

Looking ahead:
Will Italy move toward population-wide BRCA screening?
Should more genes be added to future panels (TP53, RAD51C/D)?
How spatial transcriptomics and multi-omics may reshape hereditary cancer care
Biggest opportunities and challenges for scaling genetic testing globally

Resources:
Negedia
MGI’s Sequencing Platforms

Relevant DNA Today Podcast Episodes:
#25 Cancer Hereditary Experts Amy Byer-Shainman, Ellen Matloff & Georgia Hurst
#165 Sequencing for Cancer Risk with Sandra Balladares
#159 Black Cancer Genes on Breast Cancer with Dena Goldberg (Dena DNA) & Erika Stallings
#211 The Genome Defense’s Author Jorge Contreras On The Supreme Court Case for Gene Patents
#309 Netflix’s Sandra Lee on her Breast Cancer and “Blue Ribbon Baking Championship”
#311 Mock Hereditary Breast and Ovarian Cancer Genetic Counseling Session
#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech
#360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle”

Fact Check:
Kira was correct when she quoted 1 in 8 people assigned female at birth will develop breast cancer in their life, according to The National Breast Cancer Foundation Inc.

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