Demystifying Precision Medicine: Avoiding the birth of more babies with birth defects
August 12, 2016 Source: Health
Window._bd_share_config={ "common":{ "bdSnsKey":{ },"bdText":"","bdMini":"2","bdMiniList":false,"bdPic":"","bdStyle":" 0","bdSize":"16"},"share":{ }};with(document)0[(getElementsByTagName('head')[0]||body).appendChild(createElement('script')) .src='http://bdimg.share.baidu.com/static/api/js/share.js?v=89860593.js?cdnversion='+~(-new Date()/36e5)];How far is precision medicine from the people? What changes will happen to people's illnesses and deaths?
Under the recommendation of the National Health and Family Planning Commission, the Ministry of Science and Technology, and other ministries, the Xinhua News Agency reporter recently entered the Peking University Third Hospital, the China-Japan Friendship Hospital, and the Guangdong Provincial Maternal and Child Health Hospital. In some clinical hospitals, genomics-based precision medicine Has quietly grown...
Accelerate the application: "Avoid more birth-born babies"
“Accurate medicine makes choices so easy! Everything is possible in the future!†In the conference room, the words on the slide of Peking University Third Hospital Dean Qiao Jie were impressive.
Qiao Jie's self-confidence comes from the rapid development of genetic technology, especially sequencing technology in recent years. The interpretation of human life books is getting deeper and deeper, and it is also from the scientific practice of the team.
The Northern Medicine Third Hospital Reproductive Medicine Center is the birthplace of the first test-tube baby in mainland China. It is also one of the world's largest assisted reproductive technology treatment centers. The outpatient volume is growing at a rate of 20% to 30% per year, exceeding 500,000 for two consecutive years. People.
“Now more and more awareness of life is becoming more and more clear. In theory, more than 7,000 single-gene diseases can be involved in advance at the genetic level,†she said. “As long as there is enough genetic sequence information, it can be targeted. Any genetic abnormality to carry out preimplantation genetic diagnosis, chromosome and gene screening, check whether the embryo carries genetically defective genes, detect the 23 pairs of chromosome structure and number of embryos, and analyze whether the embryo has genetic material abnormalities, fundamentally Blocking genetic diseases in the family."
There is such a couple, the man has hereditary multiple osteochondroma, and wants to have healthy children who do not carry the disease site. The couple tried to make test-tube babies in the North Hospital Third Hospital. Through the genetic diagnosis of the embryos, the normal embryos were successfully transplanted. The healthy children were born in September 2014.
So far, the Northern Hospital of the Third Hospital has completed 1504 cases of chromosomal disease or embryo genetic screening, and has transplanted 1141 cases, 302 cases of delivery, and 104 cases of persistent pregnancy. In the past two years, high-throughput sequencing technology has been used to complete embryonic chromosome analysis in 39 patients. 19 cases have been transplanted, 4 cases have been delivered, and 10 cases have continued pregnancy. The team further developed the self-developed high-throughput sequencing-based MARSALA (aneuploidy sequencing and linkage analysis) technology to complete the diagnosis of embryonic monogenic genetic diseases in 41 patients, 15 cases of transplant operation, 5 cases of successful delivery, 8 cases Still in pregnancy.
The Qiaojie team has cooperated with Professor Xie Xiaoliang and Professor Tang Fuzhong of Peking University to lead the world in single cell sequencing.
"The innovation of this achievement is that by analyzing the patient's embryonic cells and performing high-throughput sequencing at the single-cell level, it is possible to detect disease-causing gene mutation sites and genome-wide chromosomal abnormalities," said Joe.
There are about 900,000 birth defects in China every year, and infertility patients are even more difficult to count.
"Maternity disorders affect tens of millions of couples in our country, traditional assisted reproductive technology can no longer meet the demand." Qiao Jie called for speeding up the application of precision medicine in obstetrics and gynecology to avoid the birth of more birth defects. "Be aware that avoiding a child with a birth defect can reduce the social burden by 1 million yuan."
“Precise medicine is on the road. In the past, only a few departments were in use. With the improvement of technology and cost, there are more and more departments from obstetrics and gynecology, oncology, ophthalmology, and neurology. To further improve the accuracy of clinical medicine. In addition, the hospital set up a molecular diagnostic center in 2014. "Qiao Jie said that the development of precision medicine requires new technology, which requires increased investment in basic medical research, and the inclusion of relevant genetic testing in medical insurance.
Precise medication: "This is our gap"
Allopurinol tablets are a common drug used to treat hyperuricemia.
Unlike other hospitals, in the Chinese Medicine Rheumatology Department of the Sino-Japanese Friendship Hospital, if the doctor prescribes this medicine to the patient, the computer system will automatically pop up a reminder that the drug efficacy and safety are related to the patient's genetic polymorphism, and genetic testing is recommended.
Cui Yong, director of the Scientific Research Department of the China-Japan Friendship Hospital and director of the Department of Dermatology and Venereology, said that this is an application of precision medicine in the clinical hospital of China-Japan Friendship Hospital. "Allopurinol tablets are a kind of medicine that lowers uric acid. If you take a specific gene, it is prone to severe dermatitis and the mortality rate is high. The doctor will recommend the patient to carry out genetic testing."
The reporter learned in the hospital clinic that some patients are not clear about the relationship between genetic testing and drug safety. Some patients are unwilling to do because they need a certain fee for testing and are not included in medical insurance.
Academician Wang Chen, dean of the China-Japan Friendship Hospital, said that there are more than 110 kinds of medicines in the hospital that can achieve precise medication, involving departments such as cancer and cardiovascular diseases.
There are several severe diseases in the dermatology department, such as systemic lupus erythematosus, severe drug eruption, pemphigus, etc., often require long-term high-dose glucocorticoids, patients need to monitor and prevent mental disorders, infections, femoral head necrosis.
"At present, accurate medical evidence shows that if the individual genomic information is detected before the medication, it is possible to avoid certain adverse reactions, such as femoral head necrosis." Cui Yong said.
In developed countries, some drugs must know the patient's genetic information before use; others, it is recommended to use the patient's genetic characteristics to get better results.
According to reports, among the 199 individualized drugs included in the US Knowledge Base of Pharmacogenetics and Pharmacogenomics, the US Food and Drug Administration has labeled 171 drug-related gene information in the specification, and the European Medicines Agency has marked 89.
"116 of the 199 individualized drugs have been marketed in China, but apart from a dozen targeted drugs, only the drug 'carbamazepine' currently needs to be guided by genetic information. This is our gap." Wang Chen said.
In order to promote the application of pharmacogenomics, China-Japan Friendship Hospital, in conjunction with more than 20 hospitals and medical institutions nationwide, established the China Precision Medicine Clinical Research and Application Alliance to establish a pharmacogenomic clinical research and application system for the Chinese population.
“We have revised and published the Expert Consensus for Clinical Research and Applied Quality Management of Precision Medicine, compiled and published the first draft of 116 accurate guidelines for personalized medicines,†said Wang Hejun, an expert at the Precision Medicine Center of the China-Japan Friendship Hospital.
Wang Chen suggested that multi-sectoral cooperation should be coordinated to establish a research and medical system for precision medicine. The State Food and Drug Administration should learn from foreign experience and guide pharmaceutical companies to carry out preliminary research based on genetic individualized medicine; major hospitals should educate more medical personnel to understand the advantages of precision medicine and promote individualized treatment.
Non-invasive prenatal: birth defects can be known in the bud
Down's syndrome, the trisomy 21, is the most common chromosomal abnormality disease, and it is also one of the most common genetic diseases in the world. Down's children are commonly known as "Tang baby." In addition, 18 trisomy and trisomy 13 are also relatively common chromosomal abnormalities. These three chromosomal diseases often lead to birth defects.
With the advancement of technology, in recent years, non-invasive prenatal genetic testing technology using venous blood drawn from pregnant women has gradually entered more and more hospitals. The screening accuracy of “Tang Baby†can reach 99%, and the detection of 18 trisomy, 13 The accuracy of the three bodies is about 95% and about 90% respectively.
The Guangdong Maternal and Child Health Hospital began non-invasive prenatal testing of these three chromosomal diseases from June 2012. So far, about 15,000 cases have been carried out, and 179 cases of chromosomal abnormalities have been detected, and 14800 pregnant women have avoided amniocentesis. .
"Especially high-risk pregnant women who have a threatened abortion and advanced age can not undergo amniocentesis. Non-invasive genetic testing technology can prevent them from avoiding the risk of puncture and prevent the birth of chromosomal abnormalities." Guangdong Maternal and Child Health Hospital Yin Aihua, director of the prenatal diagnosis center, said.
According to reports, the Guangdong Provincial Maternal and Child Health Hospital has further performed amniocentesis to extract amniotic fluid for karyotype analysis of all high-risk cases of chromosomal abnormalities found by non-invasive testing, with a comprehensive coincidence rate of 90%.
According to the traditional “gold standard†of prenatal diagnosis, ie, early pregnancy villus biopsy and mid-pregnancy amniocentesis, the risk of surgery-related abortion is estimated to be 0.5% to 1%.
“If every screening high-risk pregnant woman undergoes an invasive examination, it will not only cost a lot, but also lose many normal fetuses,†Yin Aihua said.
Non-invasive prenatal genetic testing, although not traumatic, is a highly accurate screening technique, but it is not the ultimate diagnosis.
"So far, our non-invasive genetic testing missed a total of 2 cases of 18 trisomy. These two pregnant women were found to have multiple malformations in the subsequent ultrasound malatomy. After undergoing further amniocentesis, it was confirmed that the 18 trisomy was terminated in time. Pregnancy," Yin Aihua said.
In addition to screening for Down's syndrome, scientists are experimenting with non-invasive prenatal genetic testing techniques for other genetic diseases.
In response to ultrasound abnormal fetal microchromosome disease, Yin Aihua team began non-invasive prenatal testing application research in 2013, and verified more than 1,400 clinical specimens, the detection rate was about 98%.
“We also conducted a non-invasive prenatal testing study on pregnant women with high risk of thalassemia in pregnancy.†Yin Aihua said.
Experts believe that with the accelerated localization of genetic sequencing equipment and reagents, the cost of non-invasive prenatal testing will be further reduced, and the prevention and control of birth defects in a wider range will become possible.
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