Release date: 2013-08-13 Recently, Hollywood "sexy goddess" Angelina Jolie cut the bilateral breasts to prevent cancer, and she decided that the operation was because genetic screening found that she carried the family-derived defect gene BRCA1, which caused her to have a high risk of breast cancer. For ordinary people. This has sparked a new wave of discussion about genetic screening and gene therapy in the medical community. Compared with 10 years ago, the cost of personal genetic sequencing is greatly reduced. But what can we do after we understand the secrets of our genes? From 2.7 billion to 5,000 US dollars, the "Observer" reporter Carol Kadwarad accepted the personal genome sequencing for the report. The service is provided by Illumina in San Diego, USA. Kadwarad paid $5,000 for this and also got an iPad to download the sequencing results. In 2003, when scientists first cracked the human genome sequence in 13 years, they spent a total of $2.7 billion. Less than three years ago, when Kadewarad first investigated the subject of the report, another biotech company, Knome, offered $48,000, even at a "media discount" of $35,000. Anan Ash, an associate professor at Stanford Medical School, used an analogy to describe the rapid decline in the cost of gene sequencing technology: "I drive through a Ferrari car store in Palo Alto every day and see the retail price of the Ferrari 458 Spider sports car is 39. $80,000. I figured it out, assuming that this is the cost of gene sequencing at the start of the Human Genome Project, and at the same rate, the car is now only 40 cents." As a genetics expert, Ashley should be Ilu Mina invites to personally experience personal gene sequencing and attend this year's "Know Your Gene" seminar. According to company CEO Jay Flatley, there are fewer than 500 people in the world who have been able to map their personal genes and get results. There are many related research experiments, but those who participated anonymously did not know the sequencing results. Flatley is confident in the prospects of the gene sequencing market. He said at the seminar that in 5 to 10 years, cancer is no longer a terminal illness, but a chronic disease. This sounds a bit exaggerated, but the European and American medical community generally believes that the application of genetic technology to cancer treatment has already revolutionized cancer treatment in the process of making breakthroughs. "The chemotherapy is too primitive and it is a very blunt treatment. We will look at chemotherapy in the eyes of the Middle Ages," said Eric Topol, director of the Scripps Institute for Translational Science in California. He believes that Julie's move has "extremely important symbolic significance." “It’s time to advance the research on genetic medicine,†he predicted. “In the future, people like Angelina (with breast cancer gene) may not need a double mastectomy. Maybe a sensor in the blood, once the plasma If it is different, it will give you a cancer risk ring signal, which is absolutely feasible. From the map to the diagnosis: the cost is still high. Not only the biomedical industry is ambitious in the gene sequencing market, but governments are also increasing their investment in related fields. Earlier this year, British Prime Minister David Cameron pledged to invest £100 million in the National Health Service (NHS) to personally sequence 100,000 patients. This has made people who have been lobbying NHS for years to focus on the development of genetic technology, and Ron Zimmer, an expert in genetics research think tank PHG, is one of them. “This is a potential treasure!†he said. “Our country has a unique advantage, namely the presence of NHS and medical file systems. We can make (genome sequencing results) reflect the true health of patients.†But the genes are really sequenced. Applied to medical diagnosis, it will be a huge burden for the NHS or any medical institution. The human genome has approximately 3 billion base pairs, and a complete personal genome sequencing result data occupies 500G of cloud memory. Like any electronic data, it also faces the risk of being stolen and tampered with. Illumina explains 1,600 known disease-causing genes from a clinical perspective. The genomic map of 47 people attending the workshop showed that the 1,600 disease-causing genes affected 1221 conditions. They also analyzed the potential effects of more than 20,000 variants on the disease and concluded that 65 of them may be "pathologically mutated" and can cause disease. A large research team repeatedly read and analyzes the genomic map information to arrive at these conclusions. Although the cost of mapping genetic maps has been greatly reduced, obtaining useful information in complex data is still an expensive and arduous process. Participants exchanged the results they got. Colin Smith, a professor of functional genes at the University of Surrey in the United Kingdom, told Cardvalad that the genomic map shows that a gene in his body mutates, causing an enzyme to lose its effect. "This means that if I take certain drugs, Will die, or at least very likely to die. These drugs are immunosuppressants widely used in anti-cancer treatment or transplantation surgery." Smith's father has a fatal genetic disease Huntington's disease, Smith has a 50% chance Genetically the disease. He did a genetic screening seven years ago and learned that he did not "win", and he let out a sigh of relief. "If the result is positive, I am going to resign and move to Sicily to live." Kadwarad also got the result, she is the "most healthy one" of 47 people, without any disease-causing gene of major diseases. But not everyone is so lucky, some people find themselves and their children at risk of dying from narcotics. Neonatal Sequencing: About Ethical Illumina CEO Flatley predicts that at least 10 years, newborns receiving genome sequencing will become a routine practice. "Children's early onset disease is a very important area. In the case of autism, if it can be diagnosed the next day after the child is born, the treatment should be started immediately, instead of waiting five or six years later, the significance will be great. "After the gene sequencing has become a reality on a large scale, new parents may be the first customers. Last year, clinical medicine introduced a new type of non-invasive prenatal genetic testing technology to avoid the birth of Down syndrome infants. The test only needs to take venous blood from pregnant women to avoid the risk of miscarriage of amniocentesis, so it is quickly popularized in the medical field. Just a few months ago, a research team based on a blood sample of a pregnant woman successfully mapped the complete genome of the fetus. A company called Gene Peep has provided a service that pairs customers with future spouse genes to determine whether their offspring will incorporate parental recessive genes and carry some genetic disease. But this involves an ethical controversy about "selective birth." "This is actually a technical limitation, but a social issue," Flatley said. The Human Genome Organization Ethics Committee is preparing to publish a report on the ethical issues of individual genome sequencing. Committee Chairman Ruth Chadwick said that if a child is born through genome sequencing and found that breast cancer genes are the same as Julie, how do parents deal with this situation? If a problem is discovered during the fetal period, will it lead to a miscarriage decision? And this disease may not occur 50 years later, even in a lifetime? PHG's Zimmer is firmly opposed to genetic sequencing for newborns. "They can't agree to themselves, I think this is totally unacceptable." Source: Xinhuanet Nucleic Acid Extraction Reagent Kit 64T(auto)
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