Research presented at the annual conference of the European Society of Human Genetics shows that screening people with the rare, inherited cancer predisposition condition Li-Fraumeni syndrome (LFS) brings both medical benefits and substantial healthcare cost reductions.
The findings “could help inform future discussions about how surveillance protocols for LFS can be further optimized,” said Marion Rolain, a biomedical researcher and engineer in the genetics department at the Centre Hospitalier Universitaire Rouen in France, who presented the research.
“The goal is not necessarily to increase or decrease surveillance, but rather to ensure that screening strategies are as effective, evidence-based and personalized as possible,” she added.
Rolain explained that LFS is caused by pathogenic variants in the TP53 gene, which occur in approximately one in 5,000 to one in 20,000 individuals. It often presents as cancer, particularly rare adrenal or brain tumors, osteosarcoma, soft tissue sarcomas and/or breast cancer, that develops at an unusually young age. LFS is also suspected when a person has multiple primary cancers, including cases of childhood cancer within the same family, with diagnosis confirmed through genetic testing of the TP53 gene.
The high lifetime risk for multiple primary cancers among individuals with LFS means that their care is based on intensive multiorgan surveillance that includes annual whole-body and brain magnetic resonance imaging (MRI), regular clinical examinations of organs at risk, and age- and risk-adapted screening such as abdominal ultrasound, blood pressure measurements, breast MRI in women, and looking for signs of early puberty or virilization caused by potential adrenal tumors in children.
Carla Oliveira, PhD, from the Institute of Research and Innovation in Health at the University of Porto, in Portugal, who coordinated the study as part of the EU PREVENTABLE project, told Inside Precision Medicine that “although surveillance programs for LFS are increasingly implemented, there is still limited real-world evidence on their overall clinical, social, and economic impact.”
Her team wants to better understand and demonstrate the value of proactive prevention, early detection, and specialized care in individuals with hereditary cancer predisposition syndromes, including LFS.
“More broadly, the PREVENTABLE project aims to generate evidence to support a shift from a reactive healthcare model focused on treating advanced cancer to a more proactive approach centered on prevention and earlier diagnosis, when a genetic diagnosis is available,” Oliveira said.
The study included retrospective clinical data from 505 TP53 carriers and 361 non-carrier relatives from seven European countries.
The researchers used standardized French hospital fees to calculate the costs of each individual’s healthcare pathway then compared two groups; those without a prior cancer diagnosis who underwent proactive surveillance with regular screening, and those who received treatment after being diagnosed with cancer.
Among the 155 TP53 carriers (median age 28 years) without a prior cancer diagnosis included in the preventive arm, 18 (11.6%) developed one or more cancers during more than six years of follow-up. The mean cost of prevention was €6047 ($7007) per patient.
In the 273 patients who had already developed cancer prior to genetic testing, (median age 33 years), the mean treatment cost was €53,906 ($62,464) per patient. Within this group, 109 patients had early stage and 164 advanced stage disease.
Rolain noted that as well as a nine-fold lower cost among the patients who received screening before a cancer diagnosis, there were significant improvements in survival among the screened patients.
“From a clinical perspective, our results were not surprising, since intensive screening should enable earlier cancer detection, generally associated with better clinical outcomes. But what is particularly noteworthy is that we have been able to see this reflected in real-world data across several European countries. And we were also struck by the dramatic difference between prevention and treatment costs,” said Rolain.
She added: “While further large-scale prospective studies will be needed to confirm our findings, we believe that they are already sufficient to make the case for investing in early genetic testing in tumor risk syndromes. We have been able to show that catching cancer early or preventing it altogether is not only better for patients, but also for healthcare systems.”
The researchers hope that their study findings will contribute to future refinements of existing guidelines and help improve the balance between early cancer detection and the burden associated with intensive long-term screening for patients with LFS and other rare tumor risk syndromes.
Chair of the conference, Alexandre Reymond, PhD, who was not involved in the research, said: “With ever-increasing health system costs, it is time to change from a predominantly curative mantra and put more emphasis on prevention. This study is a beautiful example of the clinical and economic benefits of the implementation of personalized health care.”
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