Genetic instability, assessed by monitoring the mutation landscape of an individual’s genome, represents a strong risk indicator for cancer development.
By analyzing cell-free circulating tumor DNA (ctDNA) and taking advantage of the latest Next Generation Sequencing (NGS) technology, combined with a unique and proprietary algorithm for data analysis, HELIXAFE can monitor the accumulation of genomic mutations over time and measure genetic instability.
HELIXAFE, a product developed by Bioscience Genomics, is a prevention program aiming to assess the risk of developing solid tumors (except those of the brain). By determining the mutation state of 50 tumor-associated genes (with a total 2800 genomic loci analyzed), HELIXAFE generates a patient track record of variants that is used to monitor genomic changes over time. The presence of known tumor driver mutations should lead to additional medical investigations.

OBJECTIVE ASSESSMENT RISK
HELIXAFE detects the presence of tumor-associated mutations through the NGS technology and monitors the accumulation of such mutations over time through a sophisticated management proprietary software. Until now, the risk assessment of solid cancers was primarily based on the medical and family history of a patient. Now, with HELIXAFE, the genomic information becomes the tool to accurately detect and measure the objective risk for an individual to develop a malignancy.

Based on massive and highly accurate parallel sequencing, the NGS technology has revolutionized medical genetics, making human genome sequencing available to society at a sustainable price.

NON-INVASIVE
The ctDNA is easily obtained from plasma separated from a blood sample (typically 10cc). Annual HELIXAFEtesting allows the detection of tumor-associated mutations, the monitoring of mutation accumulation over time and the assessment of the allelic variations of selected genes, thus identifying genetic instability that might lead to cancer onset.

Signs of genetic instability found using HELIXAFE will be subsequently verified using the SCED test (Solid Cancer Early Detection). SCED detects mutations in specific cancer-associated genes at very low allelic frequency with the goal to achieve early cancer detection (SCED is currently in the process of being validated with an ad-hoc study).

Cigarette smoking is the most important risk factor for lung cancer, with a clear dose-effect relationship between lung cancer development and tobacco inhaling. Studies report that the risk of having lung cancer is 14 times higher among smokers than non-smokers (up to 20 times for heavy smokers - e.g. 20 cigarettes per day). Air pollution, family history of lung tumor or other cancer types, along with various lung-related pathologies may also contribute to increase the risk of developing this disease.

HELIXMOKER is a cancer prevention program specifically designed for smokers.
HELIXMOKER monitors the genomic status of 169 hotspot mutations in 11 known lung tumor driver genes (detailed list is provided below). If no increase in the number of mutations or in the allelic frequency of previously detected variants is observed, it is possible to hypothesize the absence of genetic instability, and a lower risk of developing cancer (i.e. a risk that is comparable to the general population, but not equal to zero).

CONTINUOUS MONITORING OF THE GENETIC MUTATIONAL PROFILE
Smokers, or people that are exposed daily to polluted air, can undergo a periodical (e.g. yearly) check up to assess their genetic mutational profile and monitor the emergence of DNA damages caused by lifestyle and environmental factors.

More than two million women are diagnosed every year with breast or ovarian cancer. Risk factors include genetic predisposition, late pregnancy, and a history of hormone replacement therapy, contraception or ovarian stimulation. Hormonal therapy used as contraceptive contains endocrine hormones, which in some instances may stimulate neoplastic tissue development.
HELIXGYN is an elective prevention program for women who have inherited a mutated form of BRCA1/2 or BRCA associated genes and present a high risk to develop mammary gland or ovary tumors (for example due to Hormonal therapy exposure).
HELIXGYN evaluates and monitors the genetic instability of 152 hotspot mutations in 10 Breast and ovarian cancer-associated genes over time (detailed list is provided below).

FIVET growing scientific evidence suggests that sensitive tissues such as those of breast, uterus, cervix and ovary, may be subjected to tumor formation after prolonged hormone stimulation. Studies have underlined a link between cancer development and fertility treatments. Also in this case, hormones can accelerate the growth of tumor cells that may be already present in some tissues. HELIXGYN can monitor the occurrence of cancer-associated mutations that may arise as a consequence of prolonged hormone stimulation.
Therefore, HELIXGYN is recommended in parallel to hormone-based treatment for infertility to monitor the genetic instability that could arise from the treatment.

TOS the relationship between the hormone replacement therapy during menopause and the risk of developing several tumors has been debated for decades. Hormone replacement therapy taken after menopause increases the risk to develop breast cancer as a function of treatment duration. The risk of endometrial hyperplasia, which could be a precursor for endometrial cancer, has been shown to increase in cases where only estrogens are administered. HELIXGYN is also designed to assess the safety of hormone replacement therapy.

CONTRACEPTION The use of contraceptives containing hormones, such as estrogen and progesterone, can stimulate the growth of hormone-dependent tumors (e.g. breast cancer).
The Oxford Family Planning Association Contraceptive Study, involving around 17,000 women in the UK, has suggested that contraception use might in some cases increase the risk of developing cancers, such as breast cancer.
HELIXGYN can help monitoring the safety of contraceptive hormone treatment by assessing genetic instability during the treatment.

HELIXCOLON is a prevention program that provides the periodic review of 246 mutation hotspots in 14 genes involved in the development of colon cancer (detailed list is provided below). This allows the monitoring of mutation accumulation and the possibility of genetic instability, indicating a potential risk of developing colon cancer. The non-invasiveness (only 10cc of blood is required) and the precision of the genetic data obtained with NGS, makes this innovative prevention program particularly reliable.

At present, the screening tests used in many prevention programs are the faecal occult blood tests, or in some cases the rectum sigmoidoscopy (RSS). In western countries, colon cancer represents the second most common malignant tumor, with a 13% five year survival rate. Its occurrence is relatively rare before the age of 40 and it is increasingly frequent starting from the age of 60 and reaching a peak at 80 years of age, at which stage it affects men and women equally.
Colorectal cancer is often silent, having mild clinical symptoms until late stages and is often resulting from the evolution of a benign lesion (e.g. adenomatous polyps) that acquires genetic abnormalities over a relative long period of time (usually several years to decades). Thus, HELIXCOLON prevention program offers a possibility to timely identify these genetic lesions allowing a prompt intervention strategy.

RISK FACTORS for colorectal cancer development are obesity, genetic predisposition, age, inflammatory chronic bowel diseases and clinical history of colon polyps.