What is Genetic Counseling? Prenatal Diagnosis Counseling [Physician Supervision].


The gender of the fetus is known at 10 weeks.

Genetic counseling

Genetic counseling is the provision of medical information based on scientific evidence and gaining understanding of diseases, worries, and questions related to genetics. Then, we provide psychological and social support so that patients can solve their problems by using medical technology and information on their own.

In Japan, genetic counseling services were provided as “genetic counseling” in the 1970s. With the development of genetic medicine, genetic medicine departments were established in university hospitals in the late 1990s, and in the 2000s, a system of clinical geneticists and certified genetic counselors was established as experts in genetic medicine.

Many people seek genetic treatment because they have concerns about genetics, such as finding out they have a hereditary disease or worrying that their disease will be passed on to their children.

Genetic counseling targets not only those who come for counseling, but also their families and other healthy people. In genetic counseling, it is necessary to convey information not only about accurate and up-to-date medical genetics, but also about ethical issues and social services, while being sensitive to the feelings of those who come for consultation.

Genetic Counseling

It is important that the person understands and accepts the situation before making a decision, and genetic counseling supports the entire process. . Genetic counseling includes both the provision of information and psychological and social support, but depending on the needs of the client, it may end with providing information, or it may focus on listening to the client’s story. The content may change depending on the situation, such as completing the counseling with psychological and social support.

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Definition of genetic counseling

The widely known definition of genetic counseling is from the National Society of Genetic Counselors in 2006, and the “Guidelines for Medical Genetic Testing and Diagnosis” formulated by the Japanese Medical Association. It is also listed.

 –Genetic counseling isthe process of helping people understand and adapt to the medical, psychological, and familial effects of genetic causes of diseaseThis process integrates the following items:

  • Interpretation of family history and medical history to assess the likelihood of disease onset or recurrence
  • Providing information about inheritance patterns, genetic testing, treatment, health management, prevention, social resources, and research (Education)
  • Informed choice or counseling to promote adaptation to risks and diseases

Since the issues handled in genetic medicine span many fields, not only clinical geneticists and certified genetic counselors, but also clinicians from each medical department, nurses, social workers, and in some cases local nursing facilities, etc. Cooperation is also necessary.

What happens in genetic counseling

Examination in genetic medicine is called genetic counseling. First, we will ask you about your background and intentions before coming to counseling. We will provide you with accurate and up-to-date medical information such as your family, medical history, pregnancy and delivery history, and discuss tests, treatments, and policies.

In each case, we will take our time and carefully make recommendations to ensure a thorough understanding.

We will then decide whether to undergo genetic testing after understanding any questions or problems you may have regarding genetic treatment.The decision whether or not to undergo a genetic test is not for a medical professional to make, but for the individual to make the decision based on their full understanding. 

When genetic testing is performed, we will discuss the test results with consideration for the impact on family members and relatives.We will not only provide medical interpretation and detailed examinations and treatments based on judgment, but also ethical and social considerations. We will also give consideration to other aspects of the situation, and together we will talk about things to be careful about in daily life and social support.

In genetic counseling related to reproductive medicine, we also provide knowledge about the treatment of children after birth and provide information about welfare services.

There are three main timing patterns for genetic testing, and genetic counseling is performed at that timing.

  • Prenatal care such as pregnancy risks and prenatal diagnosis for pregnant women
  • Childhood diagnosis and provision of information for children born with congenital abnormalities and diseases
  • Adulthood, which deals with adult-onset genetic diseases and familial tumors

When considering genetic diseases, a family tree is required. Based on the family tree, we collect information including the medical history of blood relatives and relatives, and examine the risk of genetic diseases.

In the case of prenatal diagnosis, the consultant may recommend genetic testing to diagnose congenital diseases.

Also, it is considered very important to conduct genetic counseling before performing genetic testing. Before testing, it is necessary to provide counseling on the significance of the test and what to do after taking the test.Therefore, counseling is necessary before the test, not after the test results are available.

Also, since the results of a genetic test affect not only the person seeking advice but also their family and other blood relatives, it is necessary to take care of the impact on the family during counseling.

Future of genetic medicine

Future of genetic medicine

In Europe and the United States, certified geneticists and genetic counselors are widespread, and genetic counseling is sometimes performed in general medical practice.As evidenced by the small number of certified genetic counselors in Japan, It may be an area that is not yet recognized.

but,In Japan in 2013NIPT (New Prenatal Diagnosis)became possible, and in March 2019NIPT (New Prenatal Diagnosis)The number of facilities where you can receive this treatment has increased.NIPT (New Prenatal Diagnosis)As the number of pregnant women undergoing treatment is increasing, and the involvement of genetics is becoming widely known not only for pregnant women but also in cancer treatment, it is essential that the demand for genetic treatment and genetic counseling increases.

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Genetic testing is becoming more widely available to the general public, but genetic medical treatment is not just about performing genetic testing.First of all, we need to understand what genetic testing can tell us, what kind of testing it is, and not just its advantages and disadvantages.It is necessary to thoroughly understand the ethical and social implications of genetic testing.In addition, if genetic testing is performed, genetic counseling will be responsible for interpretation of the results, judgment, detailed examination, treatment, and psychological effects.

The Japan Medical Association’s “Guidelines for Medical Genetic Testing and Diagnosis” also states that when performing genetic testing for prenatal diagnosis, it is necessary to receive appropriate genetic counseling. Prenatal diagnosis has major issues, not only medically, but also socially and ethically, and it is important for the patient to fully understand the significance of the test before ultimately undergoing the test. This is because it is necessary to determine

A lot of research has been carried out in genetic medicine, and new things are being discovered every day.Genetic treatment is almost always done at your own expense, and as a result, it is expensive.NIPT (New Prenatal Diagnosis)In this case, it will cost about 90,000 to 200,000 yen.There is a lot of information that can be obtained, and we recommend that you deepen your knowledge and understanding of the test in conjunction with genetic counseling before deciding whether to undergo the test.

What is Genetic Counseling? Prenatal Diagnosis Counseling [Physician Supervision].



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木村 眞樹子先生

木村 眞樹子先生



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