Genetic counseling has an English name is Genetic counseling. This is a medical consultation process aimed at helping individuals and family members understand their own and their family’s genetic condition and health risks.

Simply, genetic counseling is a long discussion between the patient and the counselor. During the counseling process, issues related to heredity in general and specific genetic diseases in particular will be discussed in detail by both parties.

The information provided from the patient will help the consultant diagnose and analyze the risk of diseases in families with a history of genetic diseases. From there, give specific advice on marriage and childbirth to prevent and limit the bad consequences passed on to the next generation.

The person undertaking the role of a genetic counselor is an expert in the field of genetics who can identify genetic patterns and scientific methods from which to diagnose and treat.

To understand why genetic counseling is necessary, we need to understand the importance of this counseling process. In fact, understanding your own genetic risk problem is quite complex, but genetic counseling is designed to make these issues easier to understand.

It helps you and your family properly recognize and adapt genetic risk agents. This counseling process is important to each individual and family in different ways, such as:

Genetic counseling supports pregnancy planning

Before and during pregnancy, genetic counseling can help you learn more about your reproduction risks with genetic medical conditions, which may be related to genetic testing during pregnancy. In particular, counseling can explain genetic conditions in families, reveal the nature of infertility or multiple miscarriages or stillbirths.

Genetic counseling supports to explain family genetic history

If your child or family members have genetic diseases or symptoms of a genetic condition, a counselor can help you and your family learn more about the condition, produce diagnosis or genetic tests for the most accurate results.

Genetic counseling helps to actively take care of health

Some dangerous diseases such as cancer and heart disease are inherited. Genetic counseling can help you take the initiative to identify genetic risk factors, based on a professional assessment of your personal and family health history. The consultant will help you take the right genetic testing and handle the risks through personalized medical recommendations for you and your doctor.

There are usually two parts in counseling process: pre-genetic counseling and post-genetic counseling.

During the initial consultation, the genetic counselor will make questions to determine the reason the patient/family is seeking genetic testing, what kind of information they need after the consultation, collect and record family medical history as well as evaluate personal medical history.

Patient/family will be provided with important information during the pre-test counseling session may include:

Diseases the patient is at risk for getting

Inheritance and rates of the infection

Tests available and their limitations

Solutions related to childbirth
Genetic counseling process includes:

• Discuss your needs of genetic counseling, and your expectations from this service.
• Provide a detailed medical history of you and your family (at least 3 generations).
• Learn about genetic testing options to help you decide which test is helpful in your case.
• Discuss the risks, benefits, and limitations of genetic testing.
• A physical exam as well as genetic test may be needed to confirm the diagnosis.
• Decide which genetic testing option is best for you.
• Request genetic test through CHEK Genomics.

After conducting genetic test, a Genetic Counselor will contact the patient to interpret the results. This post-test counseling session is intended to re-inform the patient and focus on providing supports and mental preparation for families to deal with the economic, social, medical, and psychological consequences. and emotions related to the their results of the genetic test.

In a genetic test, there are three specific types of results:

Positive genetic test result

This result means detecting a change in a gene, on a chromosome. Depending on the test, the results make a diagnosis of specific genetic mutations, determine your risk of future disease, or recommend further test.

Because it is a genetic test, a positive test result is not only meaningful to the patient, but also to some family members.

Notice that a positive genetic test result often cannot accurately determine the risk of a genetic disease. It is also not used to predict the progression or severity of the disease.

Negative genetic test result

When you receive this result, it means that no change in a specific gene or chromosome. A negative result shows that you do not carry a specific genetic mutation, and are not at risk for a specific genetic disease or disorder.

Variant of Uncertain Significance genetic test result

This result is sometimes released because people have common, natural variations in their DNA called polymorphisms that don’t affect our health. If genetic testing detects a change in the DNA that is not related to the disorder, it can be difficult to distinguish whether it is a disease-causing mutation or a natural polymorphism.

These results cannot confirm or remove a specific diagnosis. Nor can we use this result to indicate a person’s risk of developing the disorder.

Gene sequencing is a long-established technique for the ability to identify DNA sequencing of specific genes, coding or noncoding for functionally related proteins. It is indispensable to have gene sequencing technology in genetic counseling. This method helps counsellors know if a particular piece of DNA contains any genetic information.

These technologies have long reading times, small output data, and are quite expensive.

However, the newly born NGS technology has overcome all these limitations. NGS stands for Next-Generation Sequencing, which is known as next-generation gene sequencing technology. This is a technology for decoding millions of DNA at the same time, thereby improving the efficiency of the human genome decoding process.

Current NGS technology has a processing capacity of 100-1000 times more than conventional gene sequencing. It allows to read gene sequences with same length as the whole genome, so the cost of one-time sequencing of the human genome greatly decreases, thereby promoting usage??? and clinical applications. routine rather than just in basic research.

What is Sanger Technology?

Sanger technology or Sanger Sequencing is a gene sequencing method invented by British chemist – Frederick Sanger and his partners in 1977. Sanger is a long-standing sequencing technology, widely used before. in the presence of NGS.

Sanger technology allows to determine the exact order of nucleotides in a given DNA fragment. It is also known by names such as terminator sequencing or dideoxy sequencing.

This method is quite expensive, time consuming, waste chemicals.

When selecting a unit for genetic testing, you need to determine if the laboratory gained CAP and CLIA certificaton.

CAP stands for College of American Pathologists. This agency accredited the quality of laboratories. This certification is preferred by more than 8,000 laboratories over 50 countries around the world. CAP develops the most stringent regulations, requiring CAP accredited laboratories to comply, maintain while promoting an environment of continuous quality improvement.

CLIA stands for Clinical Laboratory Improvement Amendments. This is the US certification of clinical laboratory improvement regulation. Three of agencies responsible for CLIA are the US Food and Drug Administration (FDA), the Centers for Medicare & Medicaid Services (CMS), and the Centers for Disease Control and Prevention (CDC).

To perform tests on human biological samples, laboratories need to be CLIA certified.

Laboratories that have two certifications- CAP and CLIA will have the highest reliability.