Philippe Jean Bousquet is a public health doctor and the Director General of France's Collecteur Analyseur de Données (CAD), or Central Data Analyzer in English. Early in his career, he began focusing on global health, prevention, and epidemiology at the French National Cancer Institute (INCa).
He has also worked on developing a cancer database, healthcare information systems, and contributed to the "right to be forgotten" for cancer survivors. Now at CAD, he is advancing genomic research and public health initiatives, building on his experience in data-driven healthcare.
"The major difficulty in diagnosis of rare diseases or cancers stems from the fact that these conditions are individually rare (<1/2,000 people), very numerous (>10,000 different diagnoses), and therefore collectively frequent, affecting 5-7% of the adult population." Bousquet told us. "Advances in genomics knowledge, both in analytical tools and in understanding genetic variations, require a mechanism for large-scale data reanalysis."
Inside CAD: A National Hub for Genomic and Cohort Data
CAD is a national infrastructure, or "data warehouse", as Bousquet calls it, designed to collect and analyze genomic and molecular data. He says that its mission is "to support care and stimulate research," with a three-fold goal:
Prevention: Ensure better health for all by identifying methods for prevention.
Improved Care: Improve treatment for sick individuals by providing tools and services for interpreting genomic data.
Research Advancement: Enabling research by providing professionals with data for studies.
CAD is a vital resource for partners such as healthcare providers, researchers, and policy makers so that these key players can work together and have the data they need to ultimately advance patient care.
Transforming Genomics with AI & Paris Santé
"The main difficulty observed in the context of rare diseases lies in diagnostic wandering," Bousquet said, highlighting the prolonged search for a correct diagnosis, caused by gaps in genetic information and clinical understanding. In the context of cancer, he adds that there are obstacles in the medical field concerning "the ability to better predict the effectiveness of treatments, and to avoid relapses or complications. For instance, why a target therapy performs in some cancer types but fails in others?"
In response to these kinds of difficulties, he hopes that genetic data, combined with artificial intelligence tools, can provide the support that doctors and researchers need. "CAD will offer specific tools, data collection and secure environments to make easier daily practice, shorten the diagnostic wandering, and [propose] better treatment. "
From a bird's eye view, CAD seems like a simple database, but Bousquet shared that "it took more than 5 years to create a legal entity, reflecting the difficult context in which [CAD] was created." He believes that "the stakes are enormous, and unfortunately, building a Pandora's box comes at this cost."
While obtaining tangible effects from the database may take a substantial amount of time, AI is one of the main factors pushing progress along. Genomic medicine has evolved from identifying chromosomal abnormalities to sequencing entire genomes, generating millions of variants per individual. By using AI to analyze vast amounts of genomic data and clinical information, researchers can better and more quickly understand diseases, predict treatment outcomes, and personalize care to improve patients' quality of life.
Bousquet added, for example, that "with so many variants, finding the relevant one could be considered like finding a needle in a haystack. AI should help medical doctors to focus on and better characterize diseases."
As part of the Paris Santé Campus and national plans such as the 2025 France Genomic Medicine Plan, CAD is positioned within a dynamic network of public and private partners. “By engaging with this ecosystem, it's possible to strengthen partnerships and open up new perspectives,” said Bousquet, a potential that's especially promising as startups begin developing new AI-driven tools and services in collaboration with CAD.
Ethics & Trust
While genetic data holds great potential, it also involves privacy and ethical challenges. "Genetic data [is] amongst the most sensitive types of data. " Bousquet explained. It "can reveal information about a person's future," such as their risk factor for certain diseases.
At CAD, security and trust are key: all data is hosted on European infrastructure, in compliance with GDPR and French law. ISO 27001 certification is currently being pursued to further strengthen safeguards. Bousquet also reports that any use of data must first be approved by a Scientific and Ethical Committee, which ensures "the relevance of the project proposal" and that it does not violate ethical standards.
These guidelines are put in place to prevent the wrongful use of data, such as to identify individuals or for an insurance company to profile customers. On top of this, close ties with patient groups and caregivers are maintained to ensure transparency and public trust.
Bousquet said that as more and more stakeholders begin to build their own data warehouses like CAD, "the real added value lies in the ability to interconnect different warehouses and enable better data exploitation." Although "aiming to centralize everything in one place may seem utopian and insurmountable," he believes this kind of collaboration is vital for accelerating our diagnostic capabilities for rare diseases and cancers.
Europe in Sync
While rooted in France's public health mission, CAD plays a growing role in the European ecosystem. Bousquet reported that "the project is enabling access to genomic and related phenotypic and clinical data across Europe."
CAD serves as the French node in the 1+Million Genomes initiatives and collaborates with key projects like Genome of Europe, which, as Bousquet explained, "aims to build a European network of national genomic reference cohorts of at least 500,000 citizens." CAD also contributes to other projects such as EREDERA and AI Factories.
By building secure, standardized infrastructure, CAD enables cross-border research and helps facilitate coordinated access to rare disease data. Looking ahead, it aims to accelerate a future where medicine is not only more personalized, but also more predictive and preventive across Europe.
June 11-14 in Paris!
Interested in hearing more from experts like Bousquet who are shaping the future of health and technology? Get your pass for VivaTech 2025!
