Oncology

The PHARMAgen Customized Analysis enables physicians to gather relevant information about pharmacogenetic and drug interactions without it being necessary to know what drug pathways are involved. Three different approaches are possible, if the information is scientifically available:

• the physician prescribes a PHARMAgen test for any drug and gets pharmacogenetic information,
• the physician provides a list of drugs which a patient is already treated with and asks for drug interactions or possible pharmacogenetic issues, or finally
• the physician may also prescribe the genetic analysis of known polymorphisms of any phase I enzyme.

This test is carried out on a sub-contracted basis by an accredited laboratory.

Septin9 test: A simple blood test for the detection of colorectal cancer

Colorectal cancer (CRC) is the second most common cause of cancer-related deaths. Until now more than 230.000 people die of this disease within the european region. Although, CRC is curable if diagnosed early. A preventive screening on a regular basis is therefore of primordial importancel and should be an essential part of a general health check-up of people 50 years and older.

Concerning a preventive screening for CRC there is the possibility to regularly check the stool for occult blood. Furthermore, there is the possibility to carry out a colonoscopy that can be repeated after 10 years if the patient has been tested negative. Even though both screening methods have been proven to be very effective, the acceptance within the population is low. Reasons for the low acceptance are a dismissive attitude towards self-retrieved stool samples and towards colonoscopy. Therefore the Septin9-test offers a simple, non-invasive alternative for a preventive screening.

How does the test work?
In many diseases associated with tumors the methylation pattern of several genes can change. In colorectal cancer the Septin9 gene is methylated within a certain promotor region while it is not methylated in cells of the healthy intestinal mucosa.This methylated DNA can be detected by the Septin9 blood test. Only 1 blood draw is necessary.

How are the results of the Septin9 test interpreted?
A negative test result means that methylated Septin9-DNA could not be detected. So with this method, a  CRC can be excluded. The negative predictive value of this test is 99,9%. That means that 999 of 1000 patients tested negative are correctly classified as being CRC negative (with an assumed CRC prevalence of 0,7%). A positive test result means that there is an increased likelihood for the presence of colorectal cancer. Since 45,7% of the patients tested positive are truly positve (positive predictive value) individuals with a positive test result are requested to undergo a colonoscopy for a definitive diagnosis.

Preventive genetic test against sporadic prostate cancer

Recommendations based on variations of polymorphisms involved in dihydrotestosterone levels and five other genetic variations which play an important role in the early stages of carcinogenesis. PROSTATEgen is recommended in case of family history of prostate cancer.

This test is carried out on a sub-contracted basis by an accredited laboratory.

Preventive genetic test to counteract side effects of hormone replacement therapy

The test analyzes polymorphisms involved in the metabolism of estrogens and detoxification of estrogen metabolites. FEMgen may be performed by women prior to hormonal replacement therapy or by women who have a family history of breast cancer.

This test is carried out on a sub-contracted basis by an accredited laboratory.

Preventive genetic test against sporadic colorectal carcinoma

Genetic polymorphisms analyzed in COLOgen target a pathway involved in cell growth, proliferation, differentiation and apoptosis. COLOgen should be prescribed to individuals with a family history of colorectal cancer or of intestinal polyps.

This test is carried out on a sub-contracted basis by an accredited laboratory.

Oxidative stress

Oxygen is vital because it allows the production of energy from organic matter. Paradoxically, oxygen can also be harmful: physiological processes such as cellular respiration or protective mechanisms of the body constantly produce highly reactive oxygen compounds, including free radicals, all highly toxic.

Oxidative stress is defined as a disturbance in the balance between the production of free radicals and the ability of the body to neutralize them leading to an accumulation of free radicals. Oxidative stress over a long period may promote the development of diseases: cardiovascular diseases, chronic infectious diseases, inflammatory and neurodegenerative diseases and even cancer. Besides, oxidative stress plays also an important role in aging.

The factors or conditions below may contribute to oxidative stress:

• Heavy physical efforts
• Unbalanced diet
• Consumption of tobacco and alcohol
• Chronic fatigue
• Physical or mental stress
• Chronic and inflammatory diseases
• Treatments such as chemotherapy, radiotherapy, oral contraception
• Pollution, UV radiation
• Infections

There is a conclusive link between high levels of oxidative stress and a patient’s health.
However, in more than 80% of cases, it is possible to reduce oxidative stress and thus to improve health status, regardless of clinical context or patient’s age.

Targeted laboratory diagnoses are therefore essential for an early diagnosis and treatment of oxidative stress.

Laboratoires Réunis offers, in addition to a wide range of individual analyses, the following laboratory diagnostic profiles for the detection of oxidative stress:

• Oxidative stress-base profile: antioxidative capacity, oxidized LDL and 8-OHdG
• Profile of complete oxidative stress: antioxidant capacity, 8-OHdG, oxidized LDL, SOD, GPX, Se, Zn, Vit A & E, ubiquinone, citrulline, nitrotyrosine,
• Nitrosative stress profile: ubiquinone, nitrotyrosine, nitrophenylacetic acid, citrulline

Homocysteinemia

A thermolabile variant of the methylenetetrahydrofolate reductase, caused by a mutation at position 677, is associated with an increased homocysteine level. An increased homocysteine level can increase the risk of developing thrombosis and atherosclerosis.

This test is carried out on a sub-contracted basis by an accredited laboratory.