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A study published in Cell Death & Disease demonstrates that cfDNA testing, marketed by Bioscience Institute SPA under the name HELIXAFE, can identify solid cancer development in healthy, asymptomatic people, in which cancer has not yet developed.

Blood cell-free DNA (cfDNA) testing can be useful before cancer develops in healthy people. This is the conclusion of the study published in the peer-review scientific journal Cell Death & Disease by an international group of experts, coordinated by Bioscience Genomics, a research entity formed by the colaboration between the University of Rome Tor Vergata and Bioscience Institute SPA (, a genomics excellence center already selling the test under the name of HELIXAFE. “Now – Giuseppe Mucci, Bioscience Institute CEO, says – we can entertain new partnerships to market HELIXAFE worldwide.”

In 2017 Bioscience submitted to the International Bureau of the World Intellectual Property Organization a patent request for its algorithm to identify the genetic, prodromal, solid cancer stage. The international application was published on November 1st, 2018 (International Publication Number WO 2018/197934 A1) and the Italian patent was issued on September 27th, 2019.

The paper published in Cell Death & Disease highlights its new potential and reveals the methodology proposed by Bioscience Genomics.

Not looking for early diagnosis stage, better to look for prodromal (genetic) stage

Clinical applications of cancer study by means of the analysis of DNA fragments in the blood have already been exploring – to study, for example, genetic features of therapy-resistant cancers.

Together with co-authors from the Basel University-Hospital (Switzerland), Rome, and Trieste University (Italy), Cremona Hospital (Italy), and the Memorial Sloan Kettering Centre of New York (USA), Bioscience Genomics researchers developed a tool (HELIXAFE) built on a Bioscience patented algorithm based on the newest DNA sequencing and data analysis techniques to search for genetic alterations preceding cancer development (“prodromal”), that is in healthy, asymptomatic people in which cancer did not yet develop.

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 HELIXAFE study

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.

The worlwide 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 develops.

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 ovarian 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 HELIXGIN 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 HELIXGIN) looking for low frequency somatic mutations, is recommended.

Experts opinion about HELIXAFE

“We are excited about the publication of our technical validation work on such an important peer-review journal – Mucci says – We will soon associate HELIXAFE, our tool to monitor genetic instability, with the analysis of chronic inflammation and of the balance of gut bacteria population, which together contribute to cancer development. Our view of medicine is based on the analysis, the monitoring and the battle against physiopathological conditions that promote disease development to improve life quality and decrease the impact of treatments on sick people.”

Giuseppe Novelli, Rector of “Tor Vergata” University and last name of the work, adds: “This is the first important step in the way towards genomics fast clinical application in oncology. Now we know we have in place a robust technology that will allow to switch from the laboratory to clinical practice. However, we also need that today’s and future generations of clinicians possess all that is needed to manage the enormous potential of genomics in the medical field.”

Mucci is of the same opinion. “With HELIXAFE, tumor prevention can be achieved, even before early detection, with the evaluation of the prodromal stage that precedes the development of tumor cells. The prodromal phase of the tumor can be treated with drugs and chemopreventive substances that are indicated for conditions at risk of cancer. This phase will have to be managed with the monitoring and balancing of cancer drivers which are low grade inflammation, bacterial imbalance and deficiency of immune defenses. Together with companies that produce drugs for precision medicine, we are committed to educate doctors about this new patient management models.”

Alborelli I et al. Cell-free DNA analysis in healthy individuals by next-generation sequencing: a proof of concept and technical validation study. Cell Death Dis. 2019 Jul 11;10(7):534. doi: 10.1038/s41419-019-1770-3.

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