Release date: 2015-01-05
A great blueprint for improving life and empowering personalized treatment is opening
Gene sequencing new blue ocean - neonatal gene sequencing
In the United States, the spring breeze of gene sequencing technology has not only blown into various industries in the life sciences, but also ignited a new horn for people's longing for a healthy and healthy lifestyle.
This is not, when the second-generation sequencing is gradually maturing in the prenatal detection of the fetus and the new generation of gene sequencing technology and its research in cancer research should be gradually hot; scientists now put forward new application areas for gene sequencing technology - Newborn Whole Genome Sequencing Project, which will open the new blue ocean in the segmentation field!
Doctors in American hospitals generally believe that the government should fund a new medical project—genome-wide sequencing of new-born healthy babies, and the measured data will help genetic science to be used in people's lives, such as Help develop personalized treatments that help asthma patients choose the most effective medications.
Brigham and Women's Hospital, which has more than 150 years of history, is the founding hospital of the American Union Medical System (PHS) and the Nobel Prize-winning hospital in the world. The hospital geneticist Robert C. Green said "We are entering a new era. All medical research will develop into medical research related to genomics. In the next 5 to 10 years, not only will the cost of sequencing be lower, but the interpretation of genomic data will be more mature. Everyone's genetic sequence information will become more and more important."
We know that early identification of a disease can save a child's life or early intervention in a genetic disease that may occur to a child.
Through genome-wide sequencing, whole exome sequencing and other technologies, it is found that 1% to 2% of the genome of the human body is the fuse of most genetic diseases. Gene sequencing through specific sites can help identify some mutation-related disease.
In the United States, some hospitals have sequenced some newborns with signs of disease or developmental disorders and found that the technology can help doctors identify potential disease problems.
New segmentation industry: facing three major challenges
Although there are many advantages to whole-genome sequencing of newborns, many problems remain.
First, most of the whole genome is still a mystery, and even most doctors don't know how to interpret the information provided by the sequencing results.
Second, although the price of genome sequencing has fallen dramatically, it is currently as low as $1,000, but it is still much higher than the traditional acupuncture sample technology ($25).
Third, genome-wide sequencing of newborns has exposed ethical dilemmas: assuming that the risk of certain genetic mutations in newborns is discovered by genetic sequencing, and doctors are not sure if the risk will lead to disease, should this be told? parents?
Researchers' attitudes toward whole-genome sequencing of newborns
The survey found that some families were uncomfortable with the child's genetic information and were unwilling to have the baby perform the test. They believed that the promotion of the test should be based on voluntary choice. So Joshua E. Petrikin, director of the neonatal genome at Renci Children's Hospital in Kansas City, Missouri, said that if the universal acceptance of the whole-genome sequencing technology is needed, then education is needed, which may be more time-consuming than solving the technology itself. .
In 2013, the National Institutes of Health (NIH) funded a total of $25 million to fund four different neonatal gene sequencing technology projects. It is expected that by 2015, including the University of North Carolina at Chapel Hill, the University of California, San Francisco, and some hospitals, genetic sequencing will be conducted for healthy newborns and sick newborns, and the results of testing through genetic sequencing will be Traditional acupuncture sample techniques are compared to improve the accuracy of newborn screening.
At the same time, Brigham and Women's Hospital and Boston Children's Hospital have submitted the BabySeq Project. in 2014, and are awaiting final approval. It is expected to provide genetic sequencing services for some parents with healthy infants starting this year. .
In December last year, the Renci Children's Hospital of Kansas published its gene sequencing results for sick babies in the journal Science Translational Medicine. In this study, genome-wide or exome sequencing of children with neurodevelopmental disorders in 100 families was performed. Some of the samples from these studies have been seeking diagnostics for their children for many years, and some have had very serious illnesses at birth. Data analysis found that 45% of households used genetic diagnostic tests, and the number of infants undergoing genetic diagnostic tests was 73% higher in congenital neonates.
Stephen F. Kingsmore, director of the Genome Medicine Center at the Kinder Children's Hospital and a leader in the research, hopes that the genome-wide sequencing program will expand to approximately 14% of the 4 million newborns in the United States that come to the ICU ward (intensive care unit). On the baby. He said that genome sequencing can help older babies with more advanced treatment and help some newborns predict rare or unknown genetic diseases.
Dr. Kingsmore also said that although it is not yet proven that genetic sequencing of healthy newborns is meaningful, there is sufficient data and strong logic to prove beneficial for congenitally ill infants.
Dr. Petrikin also exemplified that their hospital doctors had planned to remove the entire pancreas of a baby girl when diagnosing a baby girl with very low blood sugar. However, by whole-genome sequencing, it was found that only a small part of the pancreas had to be removed, which prevented the patient from avoiding Long-term dependence on insulin. In this case, assuming that there is no cure for the disease identified by genetic testing, the doctor can also provide treatment guidance for the family and provide some pregnancy information advice to the parents of the patient who wants to re-fertility.
Attitudes of newborn families to whole-genome sequencing: supporters far more than opponents
Researchers in the United States are also exploring the family's attitude to genome sequencing. In December last year, they conducted a medical genetic survey of parents of 514 healthy newborns who came within 48 hours of the Brigham and Women's Hospital's Fertility Center to understand the genomic information, genetic risk and genetics of the first parents. The cognitive nature of the meaning of the information, and asked if they are willing to involve the baby in the whole genome sequencing of newborns, the results show that about 83% of parents are interested in participating in the genetic testing of newborns.
In addition, Donald Chaplin of Acton, who has been a father for 17 months, is also very interested in this test. As a pharmacist, he said that although he is worried about the potential risk of abuse of genetic data, he still hopes to know more information about his son's genetic information.
However, Nicholas Catella, an engineer from Jamaica, said he would not care too much about the sequencing results unless the screening showed that the newborn was at risk of serious illness. Mr. Catella has 2 children, one is 3 years old and the other is 16 months. He said: Although gene sequencing can reveal the risk of chronic diseases like Alzheimer's, there is still no good intervention. Before deciding whether his or her child is healthy, he needs a good reason to understand this information.
Xiaobian Prospect: Let the genetic data accompany people's life
The current next-generation sequencing technology is mainly used for NIPT (non-invasive prenatal detection of fetal chromosome aneuploidy abnormalities) and screening of some tumors. American scientists have proposed that the application of gene sequencing to newborn health screening has not only expanded The application field of the first generation of sequencing technology; when the technology is mature, the gene sequencing data accompanying the baby will accompany people's life, and is committed to improving human life and helping individualized treatment, becoming the "compass" in the process of new life growth. ".
Source: biodiscover
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