"Every patient is unique, and doctors have been trying their best to use drugs for different people. Just like you need a blood transfusion, the blood type must match, which is a very important discovery. If we "match" the individual's genetic code with cancer and use it as a practical standard, then it will be as convenient to decide the dosage of drugs as to measure our temperature-this is the hope that precision medicine brings us. Obama, 2065438+0565438+1October 20th.
In the State of the Union address in 20 15, US President Barack Obama announced that the United States will invest 20150,000 US dollars to launch a plan called Precision Medicine (PM), and bring precision medicine into public view as a national strategy.
The so-called precision medical care is a new medical model that is "tailored". In this model, medical decision-making and implementation are customized according to the individual characteristics of patients, and the diagnosis and treatment of diseases are also based on the individual genetic information of patients combined with big data such as their individual environment, lifestyle and personal medical history.
Medical miracle in the new era
Newborn babies should enjoy the beauty of the world without worry, but not every baby is so lucky. 20 15 On July 25th, Carina came into this world with loud cries like countless newborns, but a small lump on her chin doomed her to be different.
At first, the doctor didn't diagnose it, but later it was found to be a malignant tumor. Carina, who is only 1.5 years old, has received 8 rounds of chemotherapy and surgery.
Carina's parents are exhausted and helpless in the face of the growing tumor. Radiation therapy may help, but its damage to the brain makes new parents flinch.
The doctor advised them to try any possible experimental drugs.
The detection of tumor gene showed that there was abnormal fusion of two gene sequences in the carina, which led to the occurrence of tumor. Carina's oncologist Ramamoorthy has found a clinical trial drug that can interfere with the protein synthesized by this gene fusion, but the drug is currently only for adults.
Subsequently, Dr Ramamoxi and drug manufacturer Loxo Oncology applied to the FDA for a clinical trial in children. Carina became the first clinical patient in February last year.
At first, the tumor was the size of a walnut. After 28 days of treatment, almost all the tumors disappeared. Although Carina will continue to take medicine and the tumor may mutate again, Carina is now a lively and lovely two-year-old child.
Karina's father said gratefully: This kind of treatment has made our family happy again.
Karina and other similar cases are successful because of precision medicine.
Precision medicine is the application of biotechnology and information technology in medical clinical practice, which combines big data information from different sources to establish personalized and targeted effective treatment programs for individuals.
But this is completely different from the existing medical model to choose a general treatment scheme suitable for most patients. For example, new york Si Long Kettering Cancer Center, as a leader in this field, has sequenced 654.38+00,000 tumors since 2065.438+04 for oncologists to formulate and design personalized tumor treatment programs.
Precision medicine is developing rapidly but making slow progress.
Any reform and transformation will encounter challenges. The development of precision medicine needs to face the challenges from the medical industry to the research and development of new drugs.
According to Silicon Valley Bank, venture capital firms spent $7 billion on biomedical start-ups in the United States last year. This enthusiasm is largely due to the breakthrough of genetic drugs and related technologies.
The success of the new drug Loxo Oncology reflects the role played by small companies. Joshua Bilenker, the founder of Loxo, said that the company's development has benefited from many public big data information, such as the cancer genome map of the National Institutes of Health.
With the support of private equity funds and public offering funds, Loxo received an investment of $250 million. Billenks said that Loxo mainly focuses on relatively simple genotypic cancer, suggesting that companies can quickly know whether the treatment plan is effective, which investors are happy to see.
Compared with large pharmaceutical companies developing new drugs for common diseases, these therapeutic trials can recruit small groups, so the cost is lower. The best-selling drugs for common diseases often require a large number of expensive randomized trials. In Karina's case, it is almost impossible to find more than thousands of patients in the United States to do such a test.
This targeted gene drug is only suitable for small groups of patients, and it is unlikely to become a best-selling drug, bringing big profits to the company.
Companies like Loxo are likely to recover their investment costs by charging a large fee for each patient.
At present, the average cost of cancer treatment is $654.38+$00,000 per month. However, in the past decade, the price of cancer drugs has been expanding, and both insurance companies and patients have begun to worry about the price, because the treatment costs borne by both parties are increasing (some medical expenses are borne by insurance companies and patients in different proportions).
At the same time, precision medicine certainly has technical risks.
Editas Medicine has been working on a new gene editor CRISPR/Cas9 to treat genomic abnormalities, and clinical trials are expected to begin next year.
However, before that, there are still many complicated scientific problems to be improved, such as gene editing itself, how to effectively deliver drugs to the right cells.
Precision medicine is expected to eventually treat major diseases, but it is not easy. Some diseases are very complex, and may involve multiple genomes, so it is difficult to find relevant corresponding genomic information.
In addition to genome information, precision medicine also needs to collect big data information such as patients' environment, lifestyle and health history.
Companies such as WellDoc and Omada are trying to understand and record patients' life and health data through mobile communication devices, which can help patients and doctors find better treatment entry points, especially those with chronic diseases such as diabetes and hypertension.
Joseph Kvedar, director of the "Connected Health" project advocated by the Boston Academic Medical System Medical Alliance Group, said that although some projects have been successful, a large number of patients have not become audiences. Precision medicine is far less popular than Snapchat, Instagram or Facebook.
David Coe explained, "Of course, disease reminders will not be as popular as social media, but we still have great opportunities. Contemporary social media information and mobile communication information make everyone a unique individual. If we can track these personalized information and add individual genetic information, we can go further. 」
As Obama said, "We need this information to make ourselves and our families healthier. 」
Pioneer of precision medicine
Herceptin, invented by Genentech, a biotechnology company, is the earliest targeted gene drug, which was approved by FDA on 1998. Herceptin is mainly used for metastatic breast cancer with overexpression of HER2 protein.
Since Genentech's Swiss pharmaceutical giant Roche introduced Herceptin to markets outside the United States, Herceptin has treated more than 2 million patients worldwide, with global sales exceeding $64 billion. It is well-deserved to define Herceptin as a pioneer of precision medicine.
The following is the development history of Herceptin:
From 65438 to 0985, studies by the National Institutes of Health showed that HER2 gene was frequently overexpressed in breast cancer cells. In 1990, scientists from Tektronix, which cloned the first human HER2 gene, found a way to humanize the mouse antibody. Through genetic modification, humanized mouse antibody protein was obtained, which combined with HER2 on the surface of cancer cells and did not cause immune response, and Herceptin was invented. Later, the third party estimated that the R&D cost of Transtek was 65.438+0.5 billion to 200 million dollars. Clinical trials in 1992- 1998 have verified the safety and effectiveness of herceptin. It is divided into Herceptin monotherapy and Herceptin combined with chemotherapy for patients with HER2 positive metastatic breast cancer. 1In March, 1998, Genentech announced that it would cooperate with diagnostic company Dako to develop a commercial test to diagnose patients with HER2 overexpression. 1May 1998 Genentech applied to FDA to put Herceptin into the market. The FDA believes that Herceptin fills a medical gap in the treatment of malignant tumors, opens a "green channel" for it, and conducts a "priority review". The review will be conducted in the next six months, instead of 65,438+00 months according to standard procedures. 1In September, 1998, FDA approved Herceptin for the treatment of HER2-positive metastatic breast cancer, and approved a diagnostic test to help diagnose the patient. Herceptin was approved by Europe in August 2000. From 2006 to 2008, FDA approved three different herceptin-based postoperative treatment schemes for early HER2-positive breast cancer. Then Herceptin was approved to treat gastric cancer. Herceptin's first patent in Europe expired in 20 14. Indian biotechnology company 20 13 was approved for highly similar drugs. Under his leadership, a Korean company was also approved for similar drugs. Drug research shows that there is no clinical difference in safety or efficacy compared with the original drug. Then some drugs in Asia were approved. Shortly after President Obama announced the $2150,000 precision medical research project in May 1965, the World Health Organization added Herceptin to the list of essential drugs in low-and middle-income countries. In 20 19, the first patent of Herceptin is expected to expire in the United States, which is expected to greatly reduce the cost of treatment. Subject: personalized medicine, genetics, genetic testing, genetic technology, new biomedical knowledge, precision medicine.