#长沙头条 ##湖南妇女儿童医院#
Lung cancer, stomach cancer, colon cancer, breast cancer, hereditary deafness, phenylketonuria, galactosaemia, fava bean disease......
According to statistics, there are more than 9000+ kinds of known genetic diseases, and on average, every normal person may carry 2~10 recessive pathogenic genes, and most monogenic genetic diseases cause death, teratogenicity, and disability.
At present, it has not been discovered≠ it will not appear! Genetic diseases, we have to prevent them!
1. Precise prevention of tumor risk, early detection and early treatment
When it comes to the application of genetic testing in cancer prevention, we have to mention a well-known foreign movie star - Angelina Jolie.
Julie's grandmother and aunt both died of breast cancer, and genetic testing suggested she had a high-risk BRCA1 genotype. Doctors estimate that Julie's risk of breast cancer is 87 percent and that of ovarian cancer is 50 percent. Subsequently, Julie underwent preventive surgery, which removed the breast and ovaries one after another, blocking the progression of the disease at the source.
There is some controversy about Julie's removal of the breast and ovaries, but because people with a high incidence of cancer like her have obvious familial genetic characteristics, the choice of preventive genetic testing can provide some reference for the next treatment plan.
At present, genetic testing has become a relatively common means of detection, and people with a family history of cancer can reduce the incidence of related hereditary cancers if they can undergo genetic testing for hereditary tumors and understand their own risks.
2. Precise control of cardiovascular and cerebrovascular diseases, personalized guidance for medication
In recent years, the three types of chronic diseases with the highest incidence in mainland China are: hypertension, hyperglycemia, and hyperlipidemia, and patients with three highs often induce many other diseases, such as atherosclerosis, coronary heart disease, etc.
Mr. Xia (pseudonym), 39, has a history of hypertension for 5 years and has tried various antihypertensive drugs, but the results are not satisfactory. Since his mother also suffers from high blood pressure, he knows how stubborn and harmful the disease can be.
Under the recommendation of a friend, Mr. Xia chose genetic testing to explore a more personalized treatment plan, accurately understand his differences in drug absorption, and quickly determine his physical condition and drug reaction, so as to reasonably select drugs and adjust the dosage. Under the guidance of a doctor, after 3 days of using amiloride, blood pressure decreased by 20mmHg.
Through personalized drug genetic testing, the body's ability to absorb and metabolize the drugs used in the process of chronic disease medication can be determined, and when the genetic information is interpreted, people can understand the physiological status of their bodies and the physical reactions after using drugs in a timely manner. So as to achieve the purpose of improving the efficacy of the drug, reducing the toxic side effects, and reducing the medical costs.
3. Alzheimer's disease and other complex diseases should be detected and prevented early
There are 47.5 million people living with dementia worldwide, with 7.7 million new cases each year. It is estimated that there are between 5 and 8 people aged 60 and over with dementia. In the face of such a high growth rate, how can we effectively prevent and treat Alzheimer's disease?
At present, it is difficult to achieve treatment results for patients with dementia in the middle and advanced stages, and early prevention, early diagnosis and early treatment are the only means to delay the onset of the disease.
Through genetic testing, we can check the risk of Alzheimer's disease caused by genetic factors, so as to exclude congenital factors, and at the same time try to avoid various factors that are easy to cause disease in daily life, and achieve early detection and early prevention through active diet, behavior and lifestyle intervention, so as to delay or avoid the occurrence of Alzheimer's disease and greatly reduce the risk of disease.
In addition to Alzheimer's disease, Parkinson's disease, age-related macular degeneration, monogenic obesity and other complex diseases can be assessed through genetic testing, which can help to identify high-risk groups early, prevent them early, avoid or delay the progression of the disease, and truly achieve early detection, early prevention and early avoidance.
Fourth, both husband and wife are healthy, why does the child have a genetic disease?
Both of my husband and I are healthy and have no history of adverse births, why does my child have a genetic disease?
During pregnancy, all prenatal check-ups are normal, why is there still a problem with my baby?
Our ancestors have not had an abnormal child for three generations, so why did I give birth to a child with a genetic disease?
32-year-old Xiaoliang and his wife (pseudonym) are in good health, but they gave birth to two sick children in a row and died one after another. Communicating with many parents who have had the same experience, I found that many families have similar questions.
The parents are healthy, there is no family history, and the prenatal examination is normal, why is there such a serious monogenic genetic disease?
In addition to some new abnormalities due to genetic mutations, a large part of this phenomenon is due to the fact that both spouses carry a gene that causes a recessive genetic disease.
This disease-causing gene is passed down from generation to generation in both families, and people who carry the disease-causing gene do not have the disease. However, when another person is encountered who carries the same disease-causing gene, it is possible that both disease-causing genes can be passed on to the fetus at the same time, causing the fetus to become ill.
Horrifyingly, these diseases often go undetected during routine prenatal check-ups and are only detected at birth or even long after birth.
Through genetic testing, it can help couples who are preparing for pregnancy and early pregnancy to understand the carrier of their own pathogenic variants of monogenic genetic diseases, prompt the risk of giving birth, provide scientific fertility guidance, and prevent the occurrence of birth defects. Starting from the source, starting from the general population, to prevent the first occurrence of genetic diseases, and more effectively reduce serious birth defects.
5. Comprehensive testing of human genes, one-time screening of 4000+ diseases
Genes are the materials that organisms transmit genetic information, which determine our gender, appearance, birth, old age, illness, death, etc. Genes are the "fortune tellers" of science, which can accurately predict the occurrence and development of diseases and aging, and provide the possibility for the real meaning of "curing diseases before they occur".
From now on, Hunan Women and Children's Hospital will launch a comprehensive human genetic testing project, screening 4000+ diseases at one time, finding out rare disease genetic diseases, and comprehensively predicting health risks.
1. Tumor prevention and control
Predict the risk of cancer, and if there is a risk of cancer, it is necessary to do health management as soon as possible to prevent the occurrence of diseases.
2. Arrogance management
For genetically induced hypertension, hyperlipidemia and diabetes, genetic testing guides precise chronic disease management.
3. Guide reproductive health
On average, each person carries 3-4 recessive genetic diseases, and a full set of genetic tests can guide the birth of healthy babies.
4. Detect diseases in advance
Screening thousands of diseases at one time, early detection and early intervention, and checking whether there are potential hidden diseases.
5. Guide the safe use of drugs
Different people have genetic differences, and genetic testing can accurately guide personalized medicine.
Hunan Medical Chat Special Author: Yi Ting, Hunan Women and Children's Hospital
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(Edited YT.) Part of the picture is from the Internet, invaded and deleted)