Genomics is the study of all genes in the human genome. It is based on classical genetics and focuses on genetic variation, genetic code, living environment and disease. The prospects for genomics are enormous. One day, it can help us get the most out of personal health and discover the best medical services. It can help discover new treatments—changing the human genome and preventing (or even reversing) the complications of the disease we inherited.
Although the field of genomics has existed for decades, it has only recently begun to receive widespread attention.
The road to genomics
In 2000, Bill Clinton and Tony Blair stood side by side at the White House to announce the sequencing of the human genome. This project requires more than a decade of work and costs more than $1 billion. Today, the company's propaganda for the sequencer is this: the entire human genome sequencing takes only one or two days, less than 2,000 US dollars. Those who have had genome-wide sequencing can store information in Google Cloud for as little as $25 a year. In addition, you only need hundreds of dollars and a cotton swab with your saliva. A bunch of companies can analyze your thousands of genes and identify potential health risks.
Genomics became the headline news of the mass media. Last year, Angelina Jolie underwent a double mastectomy and subsequent breast reconstruction. She discovered through genetic testing that she carries the BRCA1 mutant, which helps DNA repair. People with mutations in the BRCA1 and BRCA2 genes have a significantly increased risk of developing breast and ovarian cancer. His story is an example of genomic testing. As the cost of sequencing human genomes decreases, we can expect the continued development and growth of preventive medicine.
What role does the genome play in current medical care?
Genomics research is changing the practice of medicine. In some cases, it helps determine health risks, certain disease susceptibility, and how patients with certain drugs will respond. Genomic medicine is best developed in the following three areas:
Tumor
So far, medical genomics has made the biggest leap in the field of research and treatment of cancer. By comparing tumor genetic structural abnormalities in the same patient, oncologists can identify which mutations have occurred and use targeted chemotherapy regimens.
"The combination of some gene mutations accumulated by cells at the time of cancer production serves as a "tipping point" that causes cell division to exceed cell death," said cancer researcher Vogelstein.
The Cancer Genome Atlas project is identifying genome changes in 20 different types of cancer. This is a government-funded project under the supervision of the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI). The project hopes to subdivide the types of cancer at the molecular level, helping researchers and clinicians deal with different tumors in a more targeted way based on specific gene mutations. Changes in the genome of tumor cells lead to the production of abnormal proteins that largely contribute to the malignant behavior of cancer cells. In the eyes of researchers, these proteins are potential chemotherapeutic targets.
Take chronic myeloid leukemia (CML) as an example. In the 1960s, scientists discovered that chromosomes shifted in cancer cells (the long arm of chromosome 9 moved to the short arm of chromosome 22). They named it "Philadelphia chromosomes." Imatinib is an inhibitor of this gene rearrangement. Novartis named it Gleevec and brought it to market. This targeted drug that kills only cancer cells takes a big step forward in the treatment of chronic myeloid leukemia. Prior to the emergence of imatinib, patients with chronic myeloid leukemia survived on average for only 5 years, and now the 10-year survival rate is 90%.
Prenatal screening
Genomics has demonstrated the value of prenatal genetic screening for hereditary diseases such as cystic fibrosis, familial black-skinned dementia, and sickle cell anemia. Prenatal screening for the risk of certain birth defects is commonplace. In California, prenatal screening is available to all pregnant women. Because the risk of chromosomal abnormalities in pregnant women over 35 years of age will increase, doctors often recommend genetic testing and many private insurance companies pay part or all of the cost. For those who want to know their individual genetic risks, whether they want a child, there are companies that provide services that screen for more than 100 specific diseases.
Pharmacology (targeted drug design)
Pharmacogenomics, according to the National Institute of Human Genome Research (NHGRI), "by analyzing a person's genome, doctors can choose the drug and drug dose that might be best for that person." Therefore, prescription drugs are no longer a one-size-fits-all approach. Doctors can use pharmacogenomics to give more personalized solutions. For example, the drug trastuzumab is used to treat human epidermal growth factor receptor 2 (HER2) positive breast cancer, and HER2 is a protein that promotes the growth of cancer cells. Survival rates have increased dramatically in women using this treatment. However, treatment showed that trastuzumab in women without HER2 receptors was relatively ineffective. Trastuzumab has severe cardiac side effects, and doctors who understand this will avoid the use of trastuzumab in breast cancer patients who do not have HER2 receptors.
Similarly, 40% of patients with metastatic colon cancer-specific genes have mutated and they will not receive any benefit from cetuximab. For these patients, genetic testing can save them side effects and related costs.
Regular genetic screening?
Genomics has greatly improved our understanding of disease risk and treatment. But there is no proof that the information is useful to most people. Researchers have identified a few cases—using genetic models to predict whether a particular individual will develop certain diseases.
Julie's double mastectomy occurred because her BRCA1 gene mutation was positive. In her case, her family history shows that she has a high risk of breast cancer, making her a candidate for genome testing. However, the BRCA1 and BRCA2 genes account for only 5-10% of all breast cancers. For most people, this type of test is not recommended.
Clinical advice rarely changes if the doctor knows that the patient's risk of heart disease or stroke is slightly higher or lower. Regardless of the results of the genome test, everyone will benefit from a better and healthier diet, regular exercise, and screening based on age, gender, and medical history. In other words, the information provided by the genome test has not proven to be effective in helping people change their personal behavior.
Genomics will dramatically change medical practice – in the future it is believed that gene sequencing will be applied to more fields and to find more outbreaks.
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