In order to avoid giving birth to stupid children, \”Down syndrome screening\” is almost one of the examination items that obstetrics must choose. Once pregnant women are identified as high-risk in the initial examination, invasive tests such as amniocentesis were recommended in the past, but in recent years, \”non-invasive prenatal genetic testing\” has been increasingly recommended. The former requires enduring the pain of flesh and blood, while the latter only requires the extraction of 5 ml of venous blood.
However, \”non-invasive prenatal genetic testing\” may not be feasible for some time to come. Recently, the State Food and Drug Administration and the National Health and Family Planning Commission jointly issued a notice to stop prenatal genetic testing.
In this regard, many hospitals in Jiangcheng stated yesterday that they had not yet received a ban from the competent authorities and that relevant operations were still in progress. The Provincial Health and Family Planning Commission stated that it has not received the relevant notice yet. Once received, it will strengthen supervision in accordance with national regulations.
Competent authorities issue ban on clinical application of gene sequencing
\”Down syndrome\”, also known as congenital stupidity syndrome, is a relatively common chromosomal disorder. 60% of fetuses will miscarry in the early stage, and the surviving fetuses will have obvious mental retardation, special facial features, growth and development disorders, and multiple malformations. About 700-1,000 babies with Down syndrome are born in our province every year.
Currently, during prenatal care, pregnant women who are more than 9 weeks pregnant can undergo serological screening. If the fetus is found to be at risk of birth defects, the doctor will recommend further \”non-invasive prenatal genetic testing.\” There is no need to enter the invasive amniocentesis testing stage, which is convenient and safe.
However, the situation changed after the two ministries issued announcements. According to the requirements of the notice, before the relevant access standards and management regulations are promulgated, any medical institution shall not carry out clinical applications of gene sequencing (i.e. genetic testing), and those that have already been carried out must be stopped immediately. This means that once pregnant women are identified as high-risk groups in serological screening, they can only choose invasive methods such as amniocentesis for re-examination.
Why did the competent authorities make this request? The response from the two ministries and commissions is that the gene sequencers and related reagents and software currently used in our country have not obtained national medical device review and approval and are \”illegal medical use.\” This move is to ensure the safety and effectiveness of gene sequencing diagnostic products used by the public and strengthen the management of clinical applications of medical technology.
Jiangcheng in our province has not yet received the notification, and the relevant tests are still in progress.
It is understood that \”non-invasive prenatal genetic testing\” is widely carried out in many hospitals in my country, and Wuhan is no exception. Some hospitals do not have the technical conditions to carry out genetic testing themselves and entrust third-party genetic companies to do the testing on their behalf. According to Song Jieping, director of the Gene Center of the Provincial Maternal and Child Health Hospital, about 4,000 pregnant women receive genetic testing at the hospital every year.
Zhou Aifen, director of the health department of Wuhan Maternal and Child Health Hospital, said that both pregnancy serological screening and \”non-invasive prenatal genetic testing\” require the blood of pregnant women. Among them, serological screening is cheap and generally available inIt costs about 100 yuan, but the false positive rate (that is, the test shows that there is a problem, but there is no problem) is more than 20%; the accuracy of genetic testing is relatively high, and the cost is relatively high. Most are around 2,000 yuan.
Yesterday, our reporter visited many hospitals in Jiangcheng. In response to the suspension of \”non-invasive prenatal genetic testing\”, various hospitals stated that they have seen relevant news from the Internet, but have not yet received notification from the health authorities, and related business is still operating normally.
Pregnant women are afraid of risks, experts say amniocentesis is safe
Ms. Meng, 26, who lives in Xudong, Wuchang, is 14 weeks pregnant. Yesterday, she went to Wuhan Maternal and Child Health Hospital for a pregnancy test as scheduled. The risk value of the \”Down syndrome screening\” showed \”1/250, high risk\”, which scared her to tears on the spot. The doctor comforted her and said that the screening was only a preliminary examination, not a confirmed result, and suggested that she undergo further examination.
Before the ban was implemented, Ms. Meng could still choose \”non-invasive prenatal genetic testing\”; but once the ban was implemented, she could only choose invasive tests such as amniocentesis. In fact, in the future, pregnant women like her who are initially screened for high-risk \”Dang\’s syndrome\” will experience \”physical pain\” during re-examinations.
The reporter randomly interviewed many pregnant women, and most of them said that if the genetic testing project violates regulations, it should be stopped. However, some pregnant women still have concerns and fears about amniocentesis because amniocentesis carries the risk of infection or even miscarriage. One pregnant woman even said that her colleague\’s initial screening results during pregnancy were \”risky\” but she ignored them and did not pursue further testing. As a result, she also gave birth to a healthy baby, so she also wanted to \”take a gamble.\”
\”The birth defect ratio in Wuhan is 7. Once the initial screening result is \’high risk\’, further examination is required.\” Zhou Aifen said that although amniocentesis is risky, it is performed under the guidance of B-ultrasound and is very safe. It\’s getting better, so pregnant women don\’t need to be too nervous.
The Provincial Health and Family Planning Commission stated that it will be implemented as soon as the official notice arrives.
In fact, the country does not intend to “stop” prenatal genetic testing and other projects. Regulators aim to regulate the genetic testing industry through moratoriums.
The Provincial Health and Family Planning Commission stated that my country has not yet formulated industry norms and standards for gene sequencing technology. Medical institutions have used this technology and products before, which is their own behavior and does not need to be reported to the competent authorities. However, there are some chaos and problems in the current industry, which urgently need rectification and supervision. \”Because we have not received official notification from the National Health and Family Planning Commission, our province has not stopped the clinical application of gene sequencing.\” A relevant person from the Provincial Health and Family Planning Commission said that once the official notification is received, our province will strictly supervise the genetic testing industry. . Comprehensively investigate the situation and supervise in accordance with relevant regulations.
The Wuhan Food and Drug Administration also stated that according to the requirements of the notice, gene sequencing diagnostic products are managed as medical devices, and medical device products that have not been approved and registered are not allowed to be produced, imported, or sold.and use. Therefore, after the notice is issued, gene sequencing diagnostic products must be approved and registered by the food and drug administration department, and technical access must be approved by the health and family planning administrative department before they can be used.
Suspension of genetic testing for cancer, genetic diseases, etc.
Experts expose chaos and call for strict control
In addition to Down syndrome genetic screening, genetic testing has also been used in recent years to determine the causes of various rare and genetic diseases. There are also some medical examination institutions claiming that in so-called high-end physical examinations, genetic testing can be used to determine whether the tested person is at risk of developing cancers such as breast cancer. The accuracy and reliability of some of these projects has been controversial. This time, according to the notification requirements of the two ministries and commissions, all the above-mentioned genetic testing projects have been suspended. \”Gene diagnosis is a new and useful technology.\” Professor Wang Daowen, director of the Department of Internal Medicine and Gene Therapy Center of Tongji Hospital, said that this technology is currently mainly used in disease risk prediction.
Measure and predict drug toxicity and allergies. In addition, the use of some drugs is also related to genetic diagnosis. For example, a specific drug for non-small cell lung cancer is only effective for 1/3 of patients with genetic mutations, and genetic testing is required before use.
However, genetic testing cannot cover all diseases. The causes of many diseases are quite complex and are not solely caused by genetic mutations. \”It is difficult to verify the authority of the diagnostic results of some companies on the market.\” Wang Daowen said that genetic diagnosis is an auxiliary method for diagnosing diseases, and every data measured needs to be evaluated and confirmed by research. Many institutions have over exaggerated the effectiveness of genetic diagnosis. Function, even as a means of daily physical examination, in fact, the simple test results are meaningless. Genetic testing should be targeted at high-risk groups with family genetic diseases.
He also pointed out that genetic diagnosis needs to be strictly regulated, practitioners need to take exams, technology needs to be admitted, institutions need qualifications, and quality needs to be controlled urgently. He expects the country to issue detailed rules as soon as possible.
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Steve Jobs, the founder of Apple, had his whole genome sequenced before his death. After movie star Angelina Jolie underwent genetic sequencing, she was told that she had a genetic defect that put her at a higher risk of breast and ovarian cancer, so she chose to have both breasts removed.
Original title: Picture and text: Pregnant women at high risk for Down syndrome may suffer skin and flesh pain during re-examination