An expert panel on noninvasive prenatal genetic testing (NIPT) in Japan that was newly established by the Ministry of Health, Labor and Welfare has begun deliberations on the test, which entails collecting a blood sample from a pregnant woman to detect the state of the fetus's chromosomes.
In 2013, the Japan Society of Obstetrics and Gynecology (JSOG) drew up guidelines for NIPT, and established an authorization system. However, the number of unauthorized facilities that ignored the guidelines surged.
Related bodies have deliberated the expansion of authorized facilities through the revision of the guidelines, but there is a limit to how much prenatal testing can be left up to academic societies' self-regulations.
We would like the health ministry, representing the government, to lead the discussion with the possibility of laying down new guidelines in mind.
NIPT involves analyzing the DNA of the fetus in the blood of a pregnant woman. It is a test that estimates the possibility that the fetus has any of three different chromosomal abnormalities, including Down syndrome. This test alone is not definitive, and amniocentesis is necessary to confirm NIPT results.
As of June 2020, 109 facilities were authorized by JSOG to conduct NIPT, but many women get tested at beauty clinics and other non-authorized facilities.
According to a survey conducted by a health ministry working group in fiscal 2019, many non-authorized facilities did not offer genetic counseling, or the counseling that they did offer was insufficient.
Some pregnant women are simply told the results of the test, and then fall into a dilemma of what to do with the information. There are risks of women choosing abortion before they undergo amniocentesis to confirm whether their fetus does in fact have a chromosomal abnormality.
Some facilities also provided young pregnant women, who are at a low risk of having fetuses with chromosomal abnormalities, with NIPT alongside tests that check for abnormalities in all chromosomes.
Meanwhile, it also came to light that authorized facilities can range widely in the quality of explanations and genetic counseling they provide to their patients.
In June 2019, JSOG came under fire from the Japan Society of Human Genetics and the Japan Pediatric Society for its plan to largely loosen up the NIPT guideline requirements. This June, the JSOG's guidelines were revised again, for which the organization was able to obtain other related bodies' approval, but some suggest that JSOG should have incorporated a far broader range of opinions.
We would like for a government expert panel to proceed with deliberations as it listens to the voices of people with disabilities and their families, as well as counsellors. In addition to making it compulsory to manage and maintain the accuracy of diagnoses and provide genetic counseling, a system in which sufficient information is provided to people about raising children with disabilities and the social assistance that is available is crucial.
That will, in the real sense, support couples in their process of self-determination.