NIPT and Genetic Counseling

What is Genetic Counseling for NIPT?

NIPT (non-invasive prenatal testing) is conducted as "clinical research," but it can be performed at facilities certified and registered by the Japan Medical Association and the Japan Society of Obstetrics and Gynecology, as well as at non-certified facilities.

To undergo NIPT with peace of mind, psychological support before and after the test is crucial.

The specialists and professionals who conduct genetic counseling play an important role in this process.

In this article, we explain what genetic counseling is, its role, and the practice of genetic counseling.

What is Genetic Counseling?

Genetic counseling is a type of counseling conducted by a counselor.

By providing specialized information related to NIPT and offering consultations, they support clients in making more autonomous choices.

The "Guidelines for New Prenatal Genetic Testing Using Maternal Blood" emphasize the importance of providing thorough explanations and genetic counseling before and after NIPT. This includes raising awareness about the child's disabilities and individuality, providing information on chromosomal abnormalities, interpreting the results of NIPT, and explaining the next steps, such as amniocentesis.

Important Aspects of Receiving Genetic Counseling

Now, let's look at what points you should be aware of when you actually decide to receive genetic counseling.

1. Receive Genetic Counseling as a Couple or with a Partner

Receiving genetic counseling can be more stressful and anxiety-inducing than we might imagine.

To reduce the burden of this stress and tension as much as possible, it is crucial that the pregnant woman does not go through it alone, but rather that couples or partners attend the counseling together.

Additionally, when making choices and decisions based on the results of NIPT, attending genetic counseling together supports mutual decision-making.

2. Autonomy is Required in Decision Making After Genetic Counseling

The role of specialists and genetic counselors in genetic counseling is to provide information and support the understanding of results for couples or partners undergoing NIPT, aiding in their decision-making process.

They do not make decisions on behalf of the couple after NIPT.

It is essential to understand that the final decision on which option to choose after NIPT lies with the couple themselves, and this forms the basis of receiving genetic counseling.

3. Communicate Your Concerns, Feelings, and Questions Openly to a Trusted Genetic Counselor

In genetic counseling, especially before making important decisions, it's crucial not to adopt a passive attitude.

You need to understand and use the complex and abundant information about chromosomal abnormalities and ethical issues as a basis for decision-making.

To do this, you should actively express your questions, anxieties, and feelings, and make an effort to communicate your thoughts and stance on NIPT and its results.

Of course, healthcare providers conducting genetic counseling are also human, so compatibility with the couple receiving counseling is important.

If you feel that your feelings are not being accepted or that your concerns are not being deeply listened to, it is important to communicate this dissatisfaction as well.

The Practice of Genetic Counseling in NIPT

The purpose of genetic counseling for NIPT is to clarify the anxieties, worries, and questions of the couple or partners undergoing the test, and to enable them to take actions that make problem-solving easier.

Genetic counseling is conducted by either clinical genetic specialists or certified genetic counselors. Both qualifications are jointly certified by the Japanese Society for Genetic Counseling and the Japan Society of Human Genetics.

You can check the list of how many specialists and counselors hold these qualifications on the following homepage.

• Clinical Genetic Specialist
  Clinical Genetic Specialist System Committee "List of Clinical Genetic Specialists, Supervising Physicians, and Responsible Supervisors Nationwide"
• Certified Genetic Counselor
  Certified Genetic Counselor System Committee "About the Certified Genetic Counselor System; Certified Genetic Counselor Directory"

Regular genetic counseling sessions typically last 30 to 60 minutes.

The cost of genetic counseling varies by facility, but the initial genetic counseling session usually ranges from 4,000 to 10,000 yen, and the cost of the NIPT test is approximately 170,000 to 200,000 yen.

If additional genetic counseling sessions are needed after receiving the NIPT results, those costs will also be added.

During the actual counseling session, you will communicate your current situation, medical history, family background, and the purpose of undergoing NIPT and genetic counseling to the genetic counselor.

The explanation of the NIPT test usually covers the following items:

• The chromosomal disorders being tested for
• Interpretation of the NIPT test results
• The necessity of amniocentesis if the NIPT test results are positive

Ultimately, the key point is gathering medical and genetic information and understanding to decide what to do based on the NIPT results, and how your opinions and feelings might change or remain the same through this process.

At non-certified NIPT facilities, genetic counselors may not be on staff.

When undergoing NIPT at a non-certified facility, check if genetic counseling is available. If you wish to receive genetic counseling, confirm whether it can be arranged at another facility.

Places Offering Genetic Counseling in the Country

So, where can you actually receive NIPT and genetic counseling?

Currently, NIPT can be conducted at facilities recognized as clinical research centers according to the guidelines of the Japan Society of Obstetrics and Gynecology, as well as at non-certified facilities.

On the following homepage, the National Genetic Medical Division Liaison Conference, you can view NIPT facilities nationwide using the "Genetic Medical Facility Search System" and the "NIPT Consortium".

Additionally, the homepage of the "Gene, Health, and Society" Review Committee also publishes a list of clinical research facilities related to NIPT as of July 2018.

Even at non-certified facilities, genetic counselors may be available, and you can receive genetic counseling.

In any facility, it is important for couples or partners undergoing NIPT to choose a facility where they can receive thorough and appropriate explanations about the test.

Conclusion

Once you decide to undergo NIPT, it is desirable to receive appropriate medical care and, if possible, genetic counseling, whether at a certified or non-certified facility.

It is important to choose a facility that provides an environment where couples or partners can receive NIPT, including genetic counseling, in a manner that ensures they are well-informed and comfortable with their decision.

References

• Public Interest Incorporated Association Japan Society of Obstetrics and Gynecology Ethics Committee - Guidelines for Prenatal Genetic Testing Using Maternal Blood (NIPT), 2019
• Fetal Skeletal Dysplasia Forum - About Non-Invasive Prenatal Genetic Testing (NIPT), The Practice of Genetic Counseling for the "New Prenatal Genetic Testing Using Maternal Blood"
• National Genetic Medical Division Liaison Conference