Cardiovascular diseases and cancer are two of the most common causes of death among European citizens. Some people are more likely to develop a disease due to their genetic predispositions. However, appropriate preventive care can substantially reduce this risk and save lives. Testing should be the first step in order to plan the appropriate course of action.
In the context of DNA testing, the word “predisposition” refers to the so-called genetically determined diseases. Results of a blood or saliva test allow estimation of the risk of the occurrence of a given disease before it actually develops. Predisposition to a certain disease does not mean that its development is 100% certain. Nevertheless risk awareness may motivate the patient to undergo regular check-ups to monitor her health.
Most often we learn about a disease when its symptoms occur. Genetic testing allows us to, in a way, look into the future. Thanks to scientific development in molecular biology and human genetics, we can identify the causes of diseases encoded in our DNA – says Sebastian Pukszta, Ph.D., of INVICTA Genetic Laboratory.
We are all someone’s descendants and genetic predispositions are inherited in a family. Information about health issues of one’s relatives may be a reason to suspect which diseases may affect the patient in the future. Therefore, during a consultation with a clinical geneticist patients must go through a long interview process and answer to many questions about their family.
When a first or second-degree relative is diagnosed with e.g. breast cancer before the age of 50 or ovarian cancer at any age, it means that a patient is at an increased risk. Such persons should definitely consider genetic testing – emphasizes Karolina Ochman, Ph.D., INVICTA’s clinical geneticist.
Breast cancer is the most common cancer affecting women. In Poland, the risk of developing breast cancer is approx. 23%. Ovarian cancer is the fifth most common cancer with the risk of 5%. In 2010 in Poland there were 5226 deaths caused by breast cancer and 2547 deaths due to ovarian cancer. Specialists point out that the occurrence of unfavorable mutation in BRCA1 gene increases the risk of breast cancer to 50-80% and the risk of ovarian cancer to approx. 40%.
It is worth knowing which gene variant we have. Women aged over 25 years who have chosen hormonal contraception should in particular opt to perform DNA testing. Carriers of BRCA1 gene mutations using hormonal contraception at this age for 5 years may increase their risk of breast cancer by as much as 35%. In those cases genetic test will provide knowledge whether the chosen contraception method will cause 85-100% risk of breast cancer. – concludes Karolina Ochman, Ph.D., INVICTA’s clinical geneticist.
It is similar in cases of cancers of other internal organs, such as: colon, stomach, kidney, prostate, or lungs. Genetic testing can make it possible to detect whether patient is at an increased risk to develop these diseases. Thanks to this information and further constant specialist monitoring, appropriate preventive care and early stage cancer diagnosis are possible, thus substantially increasing the chances of a successful treatment.