Genetic profiling is extremely important not only for determining certain disease susceptibility but also establishing the best treatment option for you.
DNA-based gene testing broadly refers to a test which looks for a known genetic mutation. There are several different methods of finding a mutated gene, which work to varying degrees according to the location of the mutation. To test for a mutation, the laboratory must obtain a sample (extraction) of the patient’s DNA and then amplify it using a process called Polymerase Chain Reaction (PCR). This produces a large sample of the patient’s DNA, which is essential to the testing process. Then the DNA sequence is scanned in a variety of ways, with the end result being the identification of a particular mutation on a known gene. Together these techniques are known as “Targeted Mutation Analysis.”
Genetic screening is the application of a test on people for the systematic early detection or exclusion of a hereditary disease, a genetic predisposition to a disease, or to determine whether a person carries a predisposition which may produce a hereditary disease in their offspring. Genetic screening looks for stable characteristics, meaning that repetition of the test is seldom needed and prediction of disease is possible long before its manifestation. Frequently, test results are relevant for family members and reproductive decisions. Target groups may consist of individuals or couples.
Pharmacogenomics are the proper way to determine how your body is going to respond to various drugs that may be administered for your condition(s) and allow dose optimization in order to obtain the best treatment results with minimum chances of adverse events occurrence.
Major scientific breakthrough were obtained in the cancer area where cancer genetic screening will help health care providers in their cancer prevention efforts, in closely monitoring individuals and also in choosing the best treatment options for the future precision medicine.
Moreover, based on the unique tumor genetic profile cancer patients nowadays can have specific gene mutation identified via large, comprehensive tumor testing panels, which enables them to benefit from specific, targeted therapies which directly interacts with abnormal proteins coded by tumor mutant genes.
Alternatively, for the benefit of specific early breast cancer patients, multiple gene expression assays allow today to properly assess whether chemotherapy is or is not an option to accompany endocrine therapy in their therapeutic management plan.
Read more about the evolution of genetic testing here:
Evolution of Genetic testing in breast cancer
Genetic testing in breast cancer has advanced rapidly over the last decade, offering therapeutic options and providing early screening opportunities.
Using genetics to fight cancer
One in eight women in the United States will develop breast cancer in her lifetime. This statistic makes breast cancer the leading cancer diagnosis for women in the US.