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Genetic counseling in medical care

The article was written by Dr. Do Phuoc Huy - Vinmec High Technology Center

Genetic counseling is a medical counseling process that aims to help individuals, couples or families understand and accept medical, psychological, family and social relationships and the effect on the next generation caused by genetic diseases.

1. Genetic counseling process


A genetic counseling process generally includes:
Collection and analysis of personal and family history to assess the likelihood of having a genetic disease and the possibility of passing it on to interested members blood system. The person receiving genetic counseling as well as the geneticist should exchange and fully record the health information of members within 2 generations of the person receiving genetic counseling. Educate the genetic counselor about the influence of genetics on pathogenesis, heredity pattern, the tests to be performed, and the intervention, management and prevention program, if any. Encourage individuals, families, and couples to make positive adjustments, as well as a health management plan (if applicable) to reduce the likelihood of disease progression. Provide information and support to families, individuals or couples in making decisions related to genetic diseases based on information such as wishes, needs, current medical conditions as well as other factors. other social factors such as religion.
Hẹp môn vị là bệnh lý có liên quan đến yếu tố gia đình và di truyền
Tư vấn di truyền là một tiến trình y khoa gồm nhiều giai đoạn

Support individuals, couples and families with other related problems caused by their genetic problems such as psychological effects, other family and social relationships. Information about genetics as well as genetic diseases is often very complex, so it should be presented and interpreted by experienced geneticists in language that is easier to understand but still has to ensure scientific accuracy. and at the same time non-judgmental.
The main purpose of this process after genetic counseling, the person receiving genetic counseling can effectively use the information provided by the geneticist, make appropriate decisions while minimizing and solve psychological problems.
The genetic counseling process can include many stages, including preclinical such as contact with the client by phone, face-to-face clinical consultation, testing as well as follow-up and follow-up support test.

2. Who should consider genetic counseling


Nearly all diseases involve genetic factors, but with varying degrees of contribution. For example, in infectious or traumatic diseases, genetic factors contribute very little to the pathogenesis, whereas diseases such as congenital hemolytic anemia, epilepsy ... genetic factors contribute greatly. Therefore, depending on each pathology group and life stage, the need for genetic counseling will also change according to:
Obstetrics - gynecology
Pre-pregnancy: Before becoming pregnant, couples need to think genetic counseling, especially for couples:
Have a history of having an abnormal baby with a genetic disease, repeated miscarriages, or need assisted reproduction to get pregnant.
Que thử thai
Các cặp đôi gặp khó khăn trong sinh sản cần tư vấn di truyền trước khi mang thai

Have an individually identified medical condition or run in families. Note: If you are not one of the above, you still need to talk to your geneticist before becoming pregnant because there is a chance that genetic abnormalities arise during that pregnancy (eg, chromosomal abnormalities) or occult (or residual recessive) disease. Already pregnant:
High risk with biochemical screening. Abnormalities on ultrasound, or abnormalities on antenatal visits. There is no abnormality in this pregnancy, but there is a history of giving birth to a baby with a medical condition that manifests after birth. Note: there are many genetic conditions that will not show up on ultrasound, biochemical screening, or noninvasive prenatal screening. Pediatrics:
High risk with newborn screenings. Diagnosed with diseases such as: Congenital metabolic disorders, Congenital malformations, psychomotor retardation... Having a history of giving birth to an abnormal genetic disease. Although there is no risk of disease, however, there is a need for testing to assess the child's development through genetic testing. Genetic counseling may also be considered.
Trẻ bị viêm phế quản phổi cần được bác sĩ chuyên khoa Nhi khám và điều trị
Tư vấn di truyền giúp chẩn đoán các bệnh lý ở trẻ sơ sinh

Chronic non-communicable diseases Most of the causes of chronic non-communicable diseases such as cardiovascular, endocrine, cancer are due to environmental causes. However, genetic counseling also needs to be considered, and genetic counseling becomes really necessary in the following cases:
There are many family members with the same disease (cancer, stroke, etc.) diabetes). Onset of chronic diseases at a young age. Often, chronic non-communicable diseases such as heart disease, cancer, and diabetes will begin around middle age. However, if the onset is early, genetic counseling should be considered to assess whether the disease is due to genetic risk. In addition, there are other special signs to watch out for such as Xanthoma plaques, muscle weakness increasing with unknown diagnosis... Vinmec International General Hospital is a high-quality medical facility in Vietnam with a team of medical professionals. Doctor with high professional qualifications, well-trained, specialized in domestic and foreign countries, rich experience.
A system of modern and advanced medical equipment, possessing many of the best machines in the world, helping to detect many difficult and dangerous diseases in a short time, supporting the diagnosis and treatment of doctors the most effective.

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