Researchers tested the use of the early prevention program HELIXAFE to screen for genetic alterations in healthy, asymptomatic individuals in which cancer did not yet develop. The goal of this early prevention programs is to identify subpopulations of healthy, asymptomatic people in which cancer did not yet develop that start fight cancer even before positive results from today’s early diagnosis approaches.
In fact, nowadays early diagnosis allows to identify cancer only when it already developed and reached a significative size. On the contrary, Bioscience Genomics tool allows to study the so-called prodromal phase of cancer, that is the totally asymptomatic stage in which cancer is not yet present but a number of cells accumulated genetic alterations – a phenomenon linked to cancer development known as genome instability.
Today several medicines and molecules can be efficaciously used as chemopreventive agents; individuals at high risk of cancer development, such as people in which HELIXAFE revealed a prodromal phase of cancer, could use these molecules.
The first step of the study was to demonstrate healthy individuals cfDNA analysis technical feasibility. That is why researchers analyzed blood samples from 114 patients at different times of their course of treatment, during a period ranging from 1 to 10 years. This allowed to evaluate the impact on cfDNA sequencing of factors such as its abundance.
In the second step of the study, the validity of the approach was confirmed by comparing the results of Bioscience Genomics analysis of cfDNA samples from oncological patients with the results of the sequencing of DNA from tissue biopsies from the same patients.
Finally, researchers looked for the presence of genetic alterations in healthy volunteers’ cfDNA and in parallel followed their health status up to 1 to 10 years. This made it possible to compare cell-free DNA analysis results in individuals who didn’t develop cancer, people who developed a benign tumor, and people who developed a malignant cancer.
This study demonstrated that Bioscience Institute offers a fast and reliable tool based on a simple blood draw that allows to detect genetic alterations in healthy, asymptomatic people in which cancer did not yet develop with a 0.08% limit of allelic variants detection. It represents the first important step in the way towards new cfDNA applications. Larger prospective studies will confirm the clinical usefulness of this approach.
New investments will allow to expand worldwide this innovative approach to provide people with a prevention tool to screen for cancer risk before the disease development.
Nowadays HELIXAFE is commercialized by Bioscience Institute with four different tests: HELIXPAN, appropriated for people at low risk for solid cancer; HELIXGYN, a lifeline for women exposed to hormone therapies or being at high risk for breast or ovariany cancer because of predisposing BRCA 1 or 2 mutations; HELIXMOKER, specifically designed for smokers and high pollution-exposed subjects; and HELIXCOLON, which monitors genes involved in colon cancer.
Both HELIXGYN and HELIXCOLON work with a 99,9% sensitivity, and HELIXMOKER with a 100% sensitivity. HELIXPAN allows the identification of tissues and organs needing a targeted prevention with a 95% sensitivity; if mutations are detected in genes associated with lung, colon or breast-associated genes, an additional analysis with one of the three other more specific programs, (respectively, HELIXMOKER, HELIXCOLON or HELIXGYN) looking for low frequency somatic mutations, is recommended. |