Screening people with the rare, inherited cancer-causing condition Li-Fraumeni syndrome (LFS) brings both medical and economic benefits to patients and health care systems, according to research to be presented to the annual conference of the European Society of Human Genetics.
The study, the first of its kind to look at these benefits Europewide, makes a convincing case for early genetic testing in people known to have alterations in the TP53 gene that predispose to LFS, finding that prevention costs per patient are roughly nine times lower than those of treatment. It was performed as part of the EU PREVENTABLE project, coordinated by Professor Carla Oliveira from the Institute of Research and Innovation in Health, University of Porto, Porto, Portugal.
Marion Rolain, a biomedical researcher and engineer in the genetics department at the Center Hospitalier Universitaire Rouen, Rouen, France, who will present the research, says that LFS is one of the most severe hereditary cancer predisposition syndromes.
The TP53 gene provides instructions for making a protein that suppresses tumors, keeping cells from growing and dividing too fast or in an uncontrolled way. Children born with an altered TP53 gene are at risk of developing a wide range of tumors at an early age.
The Rouen joint oncogenetics team, comprising researchers from the University Hospital and the Henri Becquerel Center, collected retrospective clinical data from 505 TP53 carriers and 361 noncarrier relatives across seven European countries through nine European Reference Network expert centers.
Based on standardized French hospital prices, they calculated the costs of each individual’s health care pathway. They then compared two groups: those 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) without a prior cancer diagnosis who were included in the preventive group, 18 developed one or more cancers,” Rolain says.
“The mean cost of prevention per patient was €6,046.80. We also saw significant improvements in survival in this group. In the 273 patients in the group who had already developed cancer prior to genetic testing, who had a median age of 33, the mean treatment cost was €53,906 per patient. Within this group, 109 patients had early-stage and 164 had advanced-stage disease.”
In LFS, prevention strategies involve the close monitoring of those affected to try to detect the first signs of cancer. The follow-up protocol involves whole-body MRI scans, MRI scans of the brain and, for adults, of the breast, ultrasound examination of the abdomen, and a clinical examination by a specialist.
The European Reference Network GENTURIS has been developing European consensus clinical guidelines for Li-Fraumeni syndrome and other tumor risk syndromes. These center on the identification of individuals at risk so that they may undergo genetic testing before they develop symptoms.
Such individuals are identified through family history or very early onset of LFS-associated cancers, and those with a predisposition to cancer, as in Li-Fraumeni syndrome, can enter surveillance programs involving regular screening to detect cancers at a very early age.
But despite the increasing use of such preventive surveillance, until now there has been no large-scale European evidence demonstrating its overall effectiveness and cost.
The researchers now intend to continue analyzing their data and publish their results. They hope that their results will be taken up by European health authorities to help strengthen prevention efforts.
“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,” Rolain says.
“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 health care systems.”
Chair of the conference, Professor Alexandre Reymond, 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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