The Sherlock Holmes of Oncology: Genetic Testing

The 29th National Cancer Prevention and Treatment Week

April 15-21

With the development of science and technology, the treatment of tumors has undergone tremendous changes, especially the innovation of genetic testing technology. Today, Yaowa will take you to learn about the "Sherlock Holmes" in the tumor world - genetic testing.

What is genetic testing?

Genetic testing refers to the technology of testing DNA through blood, other body fluids or cells. This technology can provide people with information about their own health, family genetic history and potential disease risks. It has been widely used in predicting the risk of genetic diseases and tumors, studying drug metabolism and formulating personalized treatment plans.

There are two main types of genetic testing: genome sequencing and genotyping.

Genome sequencing is a method of analyzing an individual's DNA sequence. It can determine the sequences of all genes in a person's genome, including disease-causing genes, drug metabolism genes, and other genes. The advantage of genome sequencing is that it can provide comprehensive genomic information, but the cost is relatively high.

Another genetic testing technique is genotyping. Genotyping is the process of determining a person's genotype by testing for specific genetic variations in their DNA sequence. This technique can be used to determine the risk of developing certain genetic diseases and to determine the best dosage of certain medications.

How does genetic testing guide anti-tumor treatment?

Tumors are extremely complex, and their occurrence and development involve a variety of molecular mechanisms and signal pathways. Therefore, the key to tumor treatment is to intervene in different molecular targets and signal pathways to block the growth and spread of tumors. At present, anti-tumor drugs are mainly divided into four categories: chemotherapy drugs, targeted drugs, immunotherapy drugs, and endocrine therapy drugs.

Chemotherapy drugs are drugs that inhibit tumor growth by killing tumor cells. These drugs have a good killing effect on rapidly proliferating cancer cells, but they can also damage normal cells and produce adverse reactions. Therefore, when choosing chemotherapy drugs, it is necessary to consider the patient's genetic mutation to avoid unnecessary damage.

Targeted drugs block the growth and spread of tumors by acting on specific molecular targets and signal pathways. Their effects are more precise than those of chemotherapy drugs. The development of targeted drugs makes tumor treatment more personalized and has better therapeutic effects. However, targeted drugs are not effective for all patients, and genetic testing is required to determine whether the patient is suitable for use.

Immunotherapy drugs are drugs that activate the patient's own immune system to identify and attack tumor cells. The development of immunotherapy drugs provides a more precise method for tumor treatment, but it is not effective for all patients. Therefore, like targeted therapy, it also requires genetic testing to determine whether the patient is suitable.

Endocrine therapy drugs are steroid hormones that regulate the levels of sex hormones, including androgens, estrogens, and progesterone, thereby controlling tumor growth. If the targets and metabolic enzyme genes of endocrine therapy drugs for breast cancer are tested in advance, patients can be guided to choose appropriate drugs and dosages, achieve "individualized" medication, and improve the effectiveness and safety of drug treatment.

How to choose the right treatment plan? Our "Sherlock Holmes" - genetic testing can play a greater role, and it runs through the entire treatment process of the patient's disease.

There are huge individual differences between different tumor types and tumor individuals. Before treatment, genetic testing can be used to detect genetic abnormalities and mutations in tumor cells, determine the type of disease and target selection, guide drug selection and treatment plan formulation, thereby achieving individualized treatment and improving treatment effects. For example, genetic testing can help doctors determine the patient's sensitivity to anti-tumor drugs and choose more suitable drugs. For example, for breast cancer patients with HER2 gene mutations, the standard chemotherapy regimen for triple-negative breast cancer is not very effective, but the use of HER2 targeted drugs can improve the treatment effect. Pre-treatment genetic testing can assist clinicians in formulating reasonable treatment plans.

After the treatment begins, genetic testing can provide cancer patients who are treated with drugs with individualized information about drug-metabolizing enzymes, drug targets, adverse drug reactions, etc., and evaluate the efficacy and adverse reactions of drugs by monitoring genetic mutations in tumor cells. In addition, it can also evaluate the prognosis and risk of recurrence of tumors, and guide subsequent treatment and follow-up. For example, EGFR targeted drugs often have drug resistance, and it is necessary to promptly determine whether drug resistance has occurred based on the results of genetic testing, and guide the selection of subsequent drug treatment plans to prevent treatment failure due to drug resistance.

Genetic testing results need to be combined with clinical practice to maximize their effectiveness. Genetic testing requires the guidance and supervision of a doctor, otherwise it may be misinterpreted or misused, leading to treatment risks.