This meeting is a revolution for children who do not respond to conventional treatments, explains the pediatrician, German researcher at the Institut Curie, the first French center for the fight against cancer.

Thanks to very advanced genome analysis technologies, specialists can now identify the molecular alterations of cancer cells.

And refer the patient to a treatment in the clinical trial phase.

Over the past twenty years, medicine has made giant strides thanks to genomics, which is the science of the functioning of all cells, including cancer cells, at the gene level.

"An exponential progression of knowledge", describes Gudrun Schleiermacher.

In 2003, the first big step was the complete sequencing of the human genome.

"If we wanted to analyze all the genes before, it was not possible. Since then, we have this resource, and high-performance machines which allow us to have a global view of all the genes", underlines the oncologist.

Thanks to this, "we can also see what is happening in the tumor cells".

This progress makes a huge difference in the treatment of cancer, which affects 2,500 children in France each year.

Gudrun Schleiermacher works in particular on neuroblastoma, one of the most frequent pediatric cancers, with 150 young patients diagnosed in France each year.

"True Hope"

Thanks to genomics, children in whom an alteration of a gene (called ALK) has been detected can benefit from targeted therapy, a treatment that specifically targets the mutation of this gene.

The clinical trial of a drug is underway, in particular at the Institut Curie and "the very preliminary results are very positive", adds the oncologist.

"It's a real hope."

More broadly, genomics has enabled the development of more than a hundred targeted treatments, targeting mutations in cancer cells, explains Dr. Pascal Pujol, head of the oncogenetics department at Montpellier University Hospital (South) and president of the Company. French in predictive and personalized medicine.

The Genethon laboratories for genetic research, May 10, 2022 in Evry © Eric PIERMONT / AFP/Archives

"Having genetic information opens up possibilities, including for issuing predictive diagnoses of pathologies", underlines the specialist, who cites the case of breast cancer.

Patients with a certain BRCA gene mutation have an estimated 70% risk of developing breast cancer and 20-30% for ovarian cancer.

For the latter, diagnosis and prevention are appropriate, with removal of the ovaries recommended when approaching menopause, for example.

In recent years, thanks to knowledge of the BRCA mutation, women with breast and ovarian cancer have also benefited from a drug targeting this alteration.

Rare diseases

Genomics also helps to treat rare diseases.

As part of a project promoted by Généthon, doctors and researchers from the Necker-Enfants Malades Hospital and the Imagine Institute (AP-HP, Inserm, Université Paris Cité) are working on a rare disease of the immune system, " chronic septic granulomatosis", which causes persistent infections of various organs due to immune deficiency.

The researchers used new tools, allowing "to establish maps, to analyze hundreds of individual cells", underlines Emmanuelle Six, Inserm research fellow at the Imagine institute.

Patients carrying a certain BRCA gene mutation have an estimated 70% risk of developing breast cancer and 20 to 30% for ovarian cancer © ANNE-CHRISTINE POUJOULAT / AFP/Archives

They thus revealed in these patients 51 biomarkers making it possible to predict the success or otherwise of a gene therapy treatment.

Will medicine be personalized for everyone?

Specialists are nuanced.

In particular because it will not be possible to develop personalized treatments for each rare disease.

Without forgetting, finally, paying agencies sometimes reluctant to recognize these new technologies, deplores Pascal Pujol, an ardent defender of better management by the health authorities of these costly innovations.

© 2023 AFP