What is a geneticist or a genetic specialist?

Clinical Genetics Specialist

A clinical geneticist is a specialist qualification held by doctors engaged in genetic medical treatment in Japan. Qualification is granted under the clinical geneticist system established by both the Japanese Society of Human Genetics and the Japanese Society of Genetic Counseling. After mastering a specialist field such as internal medicine, surgery, obstetrics and gynecology, or pediatrics, a doctor can obtain the specialist qualification of a clinical geneticist who specializes in genetics by engaging in genetic medical treatment for more than three years and continuing his/her studies.

There are many different diseases and disorders related to genetics, and it is a field that spans all medical departments. Clinical geneticists strive to provide appropriate genetic medical care in response to consultations about diseases related to genetics from almost all medical departments, and to solve problems such as predicted diseases and disorders related to genes. Clinical geneticists are also expected to contribute to research and education in genetic medicine.

Doctors who are qualified as clinical geneticists often specialize in obstetrics and gynecology or pediatrics, and it is not surprising that they are most prevalent in pediatrics, where there are many rare diseases, and obstetrics and gynecology, where screening for congenital diseases is often carried out. However, as the involvement of genetics in diseases and cancer that develop after adulthood has become clear, it can be said that genetic diseases are seen in all medical fields.

Some hospitals and university hospitals have independent genetic departments or outpatient clinics, and doctors from a variety of fields provide genetic counseling as clinical geneticists.

• A family member has been diagnosed with a genetic disease and is worried that they will develop the same illness.
• If a child is born with a congenital disease, the next child will likely have the same disease.
• I was recommended to take a genetic test, but what should I do?
• I want to test for the cause of a congenital (genetic) disease.
• I want to know more about the results of tests I took during pregnancy

People who undergo genetic testing are probably concerned about these issues.

We hear the word genetics a lot in our daily lives, and we all know that facial features and physical constitutions can be similar due to genetics. However, when it comes to actually being susceptible to developing a disease due to genetics, it becomes a very big and delicate issue.

Genetic analysis has become easier, and the relationship between disease and genetics has become clear even in general medical departments. In genetic medicine, it is necessary to provide medical care that takes into consideration not only medical issues, but also closely related ethical, legal, and social issues.

Genetic information is personal information that remains the same for an individual throughout their life, and some of the information is held by relatives. This is an area that requires careful ethical considerations, as it involves not only the individual but also those around them, and it is essential to involve experts who fully understand and are knowledgeable about the characteristics of genetic information.

Certified Genetic Counselor

You don’t have to be a doctor to be involved in genetic treatment. Certified genetic counselors, like clinical geneticists, are experts in genetic treatment who are jointly certified by the Japan Society of Human Genetics and the Japan Society of Genetic Counseling.

The system started on April 1, 2005, and as of April 2020, there are 267 genetic counselors working in Japan. By completing a graduate school that has a genetic counselor certification course, you can become eligible to take the genetic counselor certification exam.

Genetic counselors are certified by completing a certain amount of practical training and passing a written and interview exam. In practice, they include nurses, public health nurses, midwives, clinical psychologists, social workers, pharmacists, nutritionists, and clinical laboratory technicians. Others expected to work as genetic counselors include researchers in genetic medicine such as biology and biochemistry, and professionals in the humanities and social welfare fields.

While clinical geneticists provide counseling from a medical standpoint, certified genetic counselors provide counseling from various perspectives, including psychological and social standpoints and ethical influences. Of course, it is necessary for them to have correct knowledge about hereditary diseases, and they take on a different role in genetic treatment than doctors. They support individuals and their families undergoing genetic treatment in cooperation with genetic specialists, primary physicians, and medical departments.

As genetic medicine develops, there is a high demand for certified genetic counselors, and in addition to being involved in practical genetic treatment as counselors, there are also certified genetic counselors who work in genetic research institutes and testing companies.

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Genetic Nursing Specialist Nurse

This is a new qualification that was created in 2017 and can be obtained by having more than five years of experience as a nurse, including more than three years in genetic nursing practice, and taking an exam after completing a master’s course at a nursing graduate school.

Our goal is to identify genetic issues, support decision-making regarding diagnosis, prevention, and treatment, and improve quality of life. We support genetic medicine together with clinical geneticists and certified genetic counselors to create a system that enables people to receive the necessary medical care throughout their lives and across generations.

What is expected of genetic professionals?

I think genetic medicine is gradually becoming more familiar in Japan, with the spread of direct-to-consumer (DTC) genetic testing services. While genetic testing is now available easily, genes are personal information that never changes, and because some genetic information is shared with family and relatives, it is related not only to individuals but also to blood relatives.

In the field of obstetrics and gynecology, guidelines for “prenatal genetic testing using maternal blood (NIPT)” were issued in 2013, and NIPT (non-invasive prenatal testing) has become widely used. Since it only requires the collection of maternal blood, it is a test that poses no physical risk to the pregnant woman, and is expected to become even more widespread in the future.

Genetic medicine involves delving into private matters that even the individual and their family may not be aware of. Today, the need for team medical care is being called into question in all fields of medicine, and the importance of team medical care is also strongly recognized in the field of genetic medicine, where collaboration is extremely important not only with doctors such as clinical geneticists, but also with certified genetic counselors and genetic nursing specialist nurses who are genetic experts, as well as the attending physicians, nurses, and medical staff in other medical departments.

Genetic medicine provides “predictive medicine” to healthy people who have not yet developed a disease but are believed to be at risk of developing the disease due to their genetic predisposition. When a disease develops, direct medical intervention such as testing and treatment may be necessary, but for healthy people, the main services provided are care such as counseling and lifestyle guidance.

Genetic experts play a very large role in genetic medicine, helping patients make an informed decision about whether or not to undergo genetic testing after correctly understanding the concepts of genetics and the advantages and disadvantages of the testing, and also helping them to correctly interpret the results if they do undergo testing, and to choose subsequent tests and treatments.

When undergoing genetic medical treatment, we recommend that you undergo a careful examination by a trusted geneticist or genetic specialist after gaining a satisfactory understanding.

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