With the completion of the Human Genome Project, human medicine is moving into a new era. Massive medical breakthroughs and capital investment will usher in a new era of personalized precision medicine.
"Every patient is unique, and doctors have always done everything they can to tailor medicine to the individual. Just like if you want a blood transfusion, the blood type must match, which is a very important discovery. If we 'match' an individual's genetic code to the cancer and use that as a practical criterion, we decide on the dosage of the drug as easily as we measure our body temperature - that's the hope that precision medicine gives us." Barack Obama, January 20, 2015
In his 2015 State of the Union address, President Barack Obama announced that the United States would invest $215 million in a program called Precision Medicine (PM), bringing precision medicine into the public eye with a bang as a national strategy.
The so-called Precision Medicine is a new model of "customized" healthcare. In this model, medical decisions, implementation, and so on, are tailored to the individual characteristics of the patient, and the diagnosis and treatment of disease is based on the patient's personalized genetic information combined with his or her individual environment, lifestyle, and personal medical history.
A Medical Miracle for a New Era
Newborn babies are supposed to be carefree and enjoy the beauty of the world, but not every one of them is so fortunate. on July 25th, 2015, Carina entered the world like countless other newborn babies with a loud cry, but a small lump in her chin sealed her fate. However, a small lump on her chin sealed a different fate for her.
Doctors did not diagnose it initially, but it was later discovered to be a malignant tumor. At just 1.5 years old, Carina had already undergone eight rounds of chemotherapy and surgery.
Carina's parents were exhausted and at their wits' end as the tenacious tumor continued to grow. Radiation therapy might have helped, but the damage to the brain discouraged the new parents.
Doctors advised them to try any experimental drugs that might be available.
Genetic testing of the tumor showed that Carina had an abnormal fusion of 2 gene sequences that led to the tumor, and Carina's oncologist, Ramamoorthy, found a clinical trial drug that interfered with the protein synthesized by this gene fusion, but the drug is currently only available for adults.
Dr. Ramamoorthy and the drug's manufacturer, Loxo Oncology, then applied to the FDA for a pediatric clinical trial. Last December, Carina became the first clinical patient.
The tumor, which was initially the size of a walnut, was almost completely gone after 28 days of treatment. Although Carina will continue to take her medications and the tumor could mutate and come back again, Carina is now an active, loving two-year-old.
Carina's father said, "This treatment has given our family back its joy.
The success of Kareena and other similar cases is due to precision medicine.
Precision medicine is the convergence of biotechnology and information technology in the clinical practice of medicine, combining information from different sources of big data to create personalized, targeted, and effective treatment plans for individuals.
But this is completely different from the existing medical model of choosing a universal treatment program that works for most patients. For example, Memorial Sloan Kettering Cancer Center in New York City, a leader in the field, has been genetically sequencing 10,000 tumors since 2014 for oncologists to develop and design personalized oncology treatments.
Booming, but Slow Progress in Precision Medicine
Any reform or transformation will encounter challenges. The development of precision medicine has had to face challenges from a wide range of sectors, from the healthcare industry to new drug development.
Venture capital firms threw $7 billion at biomedical startups across the U.S. last year, according to Silicon Valley Bank, and much of that enthusiasm was driven by seeing breakthroughs in genetic drugs and related technologies.
The success of Loxo Oncology's new drug exemplifies the role of small companies. Loxo founder Joshua Bilenker says the company's growth has benefited from a number of public **** big data messages, such as the National Institutes of Health's Cancer Genome Atlas.
With the backing of both private and public ****, Loxo has now received $250 million in investment. According to Bilenkers, Loxo focuses on relatively simple genotypic cancers, meaning that the company will know very quickly if a treatment is working, which is something investors like to see.
These therapeutic tests are less expensive than big pharma's new drug development for generic diseases, because they can recruit small groups. Best-selling drugs for generic diseases often require large, expensive randomized trials. And in cases like Karena's, it's almost impossible to find more than a few thousand patients across the United States for such trials.
These types of targeted gene drugs are only available to small groups of patients and are unlikely to become blockbusters that generate big profits for companies.
Companies like Loxo are likely to recoup the cost of their investment by charging a large sum of money per patient.
Currently, the average cost of cancer treatment is $10,000 per month. But cancer drug prices have ballooned over the past decade, and both insurers and patients have begun to show concern about prices, as the cost of treatment continues to grow for both sides (some of the cost of medicine is borne by insurers and patients at different rates***).
At the same time, precision medicine of course comes with technological risks.
Editas Medicine has been working on novel gene-editing CRISPR/Cas9 research to treat genomic anomalies, with clinical trials expected to begin next year.
However, there are many complex scientific issues that need to be perfected before then, such as the gene editing itself and how to effectively deliver the drug to the right cells.
Precision medicine holds the promise of eventually treating major diseases, but it won't be easy. Some diseases are so complex that they are likely to involve multiple genomes, making it difficult to find relevant corresponding genomic messages.
In addition to needing genomic information, precision medicine also requires the collection of big data about a patient's environment, lifestyle, and health history.
Companies like WellDoc and Omada are experimenting with mobile communication devices to understand and record data about patients' lives and health, which can help patients and doctors find better entry points to treatments, especially for patients suffering from chronic diseases like diabetes and hypertension.
Joseph Kvedar, who heads the Connected Health program championed by Boston Academic Health System's Healthcare Alliance Group, said that despite the success of some programs, a large portion of patients are not the audience. Precision medicine is nowhere near as entrenched as Snapchat, Instagram, or Facebook.
Covidien explained, "Alerts about illness are certainly not as popular as social media, but we still have a big opportunity. The variety of social media messages and mobile messaging available today makes each person a unique individual. If we can track this personalized information, coupled with an individual's genetic information, we can go much further."
As Obama said, "We need this information to make ourselves and our families healthier."
Pioneers of precision medicine
Biotech company Genentech invented Herceptin, the earliest targeted genetic drug, which was approved by the US FDA in 1998, to target metastatic breast cancers with overexpression of the HER2 protein.
Since Swiss pharmaceutical giant Roche, of which Genentech is a member, introduced Herceptin outside of the United States, Herceptin has treated more than two million patients worldwide and has generated more than $64 billion in global sales. Herceptin is rightly defined as a pioneer in precision medicine.
Here is the history of Herceptin:
1985 Research at the National Institutes of Health showed frequent overexpression of the HER2 gene in breast cancer tumor cells. 1990 Scientists at Genentech, who had previously cloned the first human HER2 gene, found a way to humanize murine antibodies by genetically modifying them to obtain humanized murine antibody proteins that bind to HER2 on the surface of cancer cells without triggering an immune response, and thus Herceptin was invented. Gnentech's research and development costs were later estimated by third parties to be between $150 million and $200 million. 1992-1998 Clinical trials were conducted to validate the safety and efficacy of Herceptin. These were Herceptin alone and Herceptin with chemotherapy in patients with HER2-positive metastatic breast cancer. March 1998 Genentech announced a collaboration with the diagnostic company Dako to develop a commercial test for patients diagnosed with overexpression of HER2. May 1998 Genentech files an application with the FDA to market Herceptin. The FDA determined that Herceptin filled a medical gap in the treatment of malignant tumors and opened a "green channel" for "priority review" that would take place over the next six months rather than the standard 10 months. September 1998 The FDA approves Herceptin for the treatment of HER2-positive metastatic breast cancer and approves a diagnostic test to help confirm patient diagnosis. August 2000 Herceptin was approved in Europe. From 2006-2008 the FDA approved three different Herceptin-based post-surgical treatments for early stage HER2-positive breast cancer. This was followed by the approval of Herceptin for the treatment of stomach cancer. 2014 The first patent for Herceptin expires in Europe. An Indian biotech company was approved for a highly similar drug in 2013. It was followed by a South Korean company that received approval for a similar class of drugs. Studies of the drug showed no clinical differences in safety or efficacy compared to the original drug. This was closely followed by a number of drugs approved in Asia. May 2015 Shortly after President Obama announced a $215 million precision medicine research program, the World Health Organization added Herceptin to the list of essential medicines for low- and middle-income countries. 2019 The first patent on Herceptin is expected to expire in the U.S., at which point it is expected to significantly reduce the cost of treatment. Topics: personalized medicine, genes, gene, gene testing, gene tech, what's new in biomedicine, precision medicine