Next generation genomics: McKinsey named it one of the 12 disruptive technologies

Source: Bioscience 2013-05-28 McKinsey released a report listing 12 subversive technologies that will have a significant impact on the economy in 2025, among which the next generation of genomics is ranked 7th, and 3D printing technology (ranked 9th) belongs to the field of biomedicine Here's McKinsey's list of disruptive technologies and their potential economic impact (including consumer surplus, that is, the value that consumers have not paid for innovation) Of course, this impact assessment is only rough, not as specific as GDP figures Influence by 2025: Economy: 0.7-1.6 trillion US dollars of life: through rapid disease diagnosis, new drugs and other major technologies to extend and improve 75% of life, including: Advanced DNA sequence technology; DNA synthesis technology; big data and advanced analysis In the next generation genomics, the next generation sequencing technology, gene diagnosis and individualized medical treatment based on genetic data are particularly important Among them, the next generation sequencing technology will generate high-throughput genetic data, and researchers will associate these massive genetic data with diseases (GWAS analysis), so as to provide targeted molecules for disease diagnosis and personalized medical treatment The next generation genome sequencing technology is characterized by real-time single molecule On the basis of nanopore medium, by recording the changes of pH value, fluorescence and current, we can measure the base sequence of specific segments At present, the next generation sequencers on the market and to be listed are divided into three technical features They are ion torrent of life technologies, pacbio rs of Pacific Bioscience and nanopore sequencer of Oxford nanopore technologies Ion torrent of life technologies uses semiconductor technology to establish a direct link between chemistry and digital information The DNA strand was fixed in the micropores of the semiconductor chip, and then the ACGT was doped in turn With the incorporation of each base, hydrogen ions are released, which can be detected when they pass through the bottom of each hole Through the detection of H +, the base can be read in real time Ion torrent semiconductor sequencing chips contain about one million copies of DNA molecules on the surface of each microsphere During sequencing, nucleotide molecules continuously flow through the microchip pores If a nucleotide complements a DNA molecule in a particular pore, the nucleotide is synthesized into the DNA molecule and hydrogen ions are released, and the pH of the pore solution changes When the ion sensor detects the change of pH, it immediately changes from chemical information to digital electronic information If the DNA strand contains two identical bases, the recorded voltage signal is doubled If the bases do not match, there is no hydrogen ion released, and there is no change of voltage signal This method belongs to the synthesis of direct detection DNA Because of the lack of CCD scanning, fluorescence excitation and other links, the synthetic inserted base can be detected in a few seconds, greatly reducing the running time Pacbio rs of Pacific Bioscience is a sequencer that breaks the genomic DNA into many small pieces These small pieces of DNA are made into a solution and then dropped onto the metal sheet inside the sequencer There are 3000 nanometer sized holes distributed in the metal sheet The diameter of these nano holes is less than 70nm After being dropped onto the sheet, the small DNA The fragments will be dispersed into different nanopores Each nanopore is coated with a special enzyme -- DNA polymerase The characteristic of DNA polymerase is that it can swim along the double strand structure of DNA fragment, open the double strand structure of DNA fragment in the process of swimming, divide it into two fragments, or find the corresponding segments for a single strand of DNA, and recombine them together Scientists will The function of polymerase is vividly compared to the zipper of clothes, which can be opened and closed The sequencer uses DNA polymerase to "steal human nature" Once the DNA fragments have been dispersed in the nanopore, a specially treated nucleotide solution is dropped into the polymerase molecule, and the mystery will be solved Each nucleotide in the nucleotide solution has been labeled with phosphorescent dye, and there is a microplate spectrometer at the bottom of the metal sheet Once there are nucleotides in the DNA fragment matching with them, the marker will emit a specific color of light The microplate spectrometer can detect and record these flashes, and the sequencer can record the sequence of the base pairs in each DNA fragment When the flash is recorded, the results are entered into the computer, which deciphers all the DNA fragment results and "reassembles" them to restore the genome to its original state Oxford nanopore technologies' nanopore sequencer, which is expected to be available in 2013, works on the principle that a single DNA strand will pass through a protein pore, while a second protein will control the speed of passing through As the bases pass through the nanopores, they change the current and bring about specific base combinations In an ideal situation, people will see the typical pattern of each base, but the current instrument will produce the unique pattern of base triplet, which needs to be deconvoluted by computer Oxford nanopore technologies announced the first commercial nanopore sequencer at the 2012 AGBT, which attracted great attention of the scientific community Nanopore sequencing has a long reading length, about tens of KB, or even 100 kb; the error rate is currently between 1% and 4%, and it is a random error, rather than gathering at both ends of the reading; the data can be read in real time; the flux is very high (gridion is expected to sequence the human genome with a coverage of 30 times in a day); the initial DNA It is not destroyed in the process of sequencing; and the sample preparation is simple and cheap Breakthrough gene diagnosis was recently held at the American Association for cancer research (AACR), Mizuho Securities Analysts at the Institute pointed out that gene diagnosis is obviously an important part of oncology Even though most participants believe that molecular diagnosis can not replace the existing diagnosis method in the short term, the field of tumor genome sequencing still leaves most people optimistic Better biomarkers and diagnostics are urgently needed, the report said Researchers and clinicians use sequencing techniques, as well as genomics, proteomics and metabonomics methods, to identify biomarkers for use in patient classification for genetic diagnosis, drug development and clinical drug testing At present, in the field of molecular diagnosis, the most eye-catching news is that Angelina Jolie, a Hollywood actress and director, has her breast removed for carrying the PCA defective gene She told the New York Times that she had to undergo double mastectomy to prevent breast cancer because she carried her mother's cancer risk gene The PCa1 gene makes her 87% more likely to develop breast cancer and 50% more likely to develop ovarian cancer Therefore, Julie took the initiative in February to do double breast mastectomy to reduce the risk of cancer The operation was completed on April 27 This event makes "personal genetic diagnosis" a hot word Zhu Huanzhang, associate professor of the Institute of genetics, School of life sciences, Fudan University, said in an interview: "the scientificity of gene detection is certain, which is also a development direction in the future It will mainly develop towards individualized treatment and individualized diagnosis Everyone's situation is different If we can detect the individual's problem according to the gene, we can find the solution fundamentally " The future of individualized medicine is worth looking forward to the coming of the era of genome From the perspective of genomics, the transformation of traditional medicine can be realized By analyzing genome, we can master the individual characteristics previously known as "constitution" and determined by genes according to genetic information, so that individualized medicine can be used in different stages of disease prevention and treatment According to a report jointly released by the Baylor Center for human genome sequencing and related agencies, researchers and experts from Baylor University School of medicine have sequenced and analyzed the whole genome of a pair of twins, their brothers and parents, and found the mutant gene that caused the twins to suffer from dopa responsive dystonia, so that doctors can treat their The disease was treated and good results were achieved Dr Richard Gibbs, director of Baylor Center for human genome sequencing, said: "we have the ability to use whole genome sequencing for the benefit of patients, which is a huge progress."