Genetic counselor: help you read your own "Life Handbook"
Genetic counselor: help you read your own "Life Handbook"
August 17, 2016 Source: People's Network
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)];"The c.1634A>G heterozygous nucleotide variation was found in the PLA2G6 gene. This gene is a causative gene for axonal dystrophy type 1 in children. It is recommended to further judge whether the mutation has clinical significance based on clinical manifestations..." People will be dizzy after reading this passage. That's right, this is a genetic test report that doesn't say anything.
It is inseparable from the genetic counselor to translate this genetic test report into a medical guidance that the patient can understand and the doctor can refer to.
What do genetic counselors do? How mature is the industry? What is the development prospect?
Decoding "天书"
Ms. Yao, the First Affiliated Hospital of Zhejiang University School of Medicine, visited Ms. Yao, the genetic counselor, to be a “gene outpatient clinicâ€. Her mother had breast cancer when she was in her 50s, and she has been worried that she will also develop cancer.
Yan Ming suggested that she do a genetic test first. "There are 21 human breast cancer-causing genetic genes known to humans. The results show that there is a mutation in Ms. Yao's MLH1 gene. According to clinical experience, this mutation is more likely to cause colorectal cancer," said Yu Ming.
Under the suggestion of Qi Ming, Ms. Yao made another colonoscopy, and sure enough, she found a polyp with cancerous changes. Later, after surgical removal, Ms. Yao’s risk of colorectal cancer and breast cancer was controlled at a lower level than the general population.
This is a typical case of genetic counseling. In fact, the scope of genetic counseling is far more extensive than this.
The growth and development of the human body is like building a "high-rise building" and requires a precise "drawing" to guide. This drawing is the genetic map. There are three reasons for a person's illness: one is that the "drawing" is wrong, and the genetic problem is; the second is that the "drawing" is no problem, but the "stolen work" or the interference caused by the birth, the fetal development is defective; It is a "drawing" is very good, but because it is not used according to the "life manual", it causes the disease of the day after tomorrow. Everyone's "Life Handbook" is not exactly the same, and it is suitable for most people's certain nutrition, medicine or lifestyle, and may not be suitable for you.
"The main task of genetic counselors is to help customers understand and understand their own 'lifebook', assess the risk of disease, identify the cause of the disease, recommend detection methods, take preventive measures, choose treatment options, and guide patients' psychology. "Yu Ming said.
An extremely cold job
In China, genetic counselors are an extremely cold career! In order to become a decipher of "Life Heaven", you must bring your own "18 Martial Arts": master the professional knowledge in clinical medicine, biochemical genetics, molecular genetics, developmental biology, etc., accumulate rich clinical experience, and have excellent Communication skills……
After the completion of the Human Genome Project, gene sequencing technology and cost into the "super-moore law" fast lane: before 2003, only one person will be worth 3 billion US dollars. After 2010, the rapid development of sequencing technology will lower the price. To about $1,000, some companies in the United States even launched a $99 genetic scan "freezing point".
The domestic development situation is basically synchronized with the world. The concept of gene sequencing is "fired," but the gene consumer market is far from being a "rocket." Because people who need to do genetic testing don't know how to use this thing, people who do genetic testing can't read the report, and people who read the report don't know the rule.
He Lin, an academician of the Chinese Academy of Sciences, said that genetic counseling is an essential part of the process of gene sequencing turning to clinical applications. However, for a long time, there is no independent genetic counseling discipline or department in China. The genetic counseling work is mainly carried out in hospitals with prenatal diagnostic qualifications. It is also served by ordinary clinicians and there is no professional genetic counselor.
The reporter found that most of the genetic counseling services carried out by hospitals, genetic testing companies or third-party clinical inspection agencies serve patients in the name of “scientific researchâ€.
Yan Ming said that scientific research and clinical application are very different. "Scientific research 100 experiments, as long as 3 successes, it is worth celebrating. But clinical 100 diagnoses must be infinitely close to 100% accuracy, 1 error can cause irreparable damage to life."
“A certain degree of interpretation is more important. Genetic counseling can fill this gap and integrate clinical and genetic knowledge. Therefore, genetic counselors should be trained from clinicians. This requires coordination of overall policies and systems. Standardized training and regulatory agencies, genetic counseling is prone to errors, misleading patients, affecting diagnosis and treatment, and causing serious negative impacts on this emerging industry," said Song Lei, deputy director of the Department of Internal Medicine and external director of the Hypertension Center.
"Genetic counseling is related to the happiness and well-being of thousands of families, involving everyone's vital interests." He Lin said that to build a healthy China, it is imperative to set up a team of professional genetic counselors, establish standardized industry standards and applications, and further promote the level of clinical diagnosis and treatment in China. High-end jump.
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