The Health, Labor and Welfare Ministry plans to start discussions this fall on issues related to the so-called new type of prenatal diagnosis, in which blood tests are performed on pregnant women to detect possible chromosome abnormalities such as Down syndrome in their fetuses. The move follows recent rifts between medical organizations over a plan to ease the conditions on institutions that can perform such tests, the results of which can impose on pregnant women and their families the grave choice of whether or not to give birth.
Through the discussions at the health ministry panel of experts, the government needs to take the lead in clearing any confusion over the tests. The discussions are also hoped to address the question of how society should deal with this rapidly developing medical technology that entails possible ethical questions. Concern lingers that a widespread use of the tests could lead to the exclusion of people born with chromosome abnormalities.
When the new type of prenatal diagnosis was introduced in Japan in 2013, medical institutions that could perform the tests were limited under voluntary rules to about 90 hospitals nationwide certified by the Japanese Association of Medical Sciences as being capable of offering sufficient counseling by experts in genetic medicine to pregnant women and their families about the tests and decisions they would make on the basis of the results. That was based on the thinking that the women and the family need to make fully informed decisions on whether to take the test in the first place and what to do with the results. The tests were also limited to women who became pregnant at age 35 or older and those who had earlier been pregnant with fetuses with chromosome abnormalities.
As of last September, a total of 65,000 women are estimated to have taken the tests. A purpose of the test is to understand the condition of the fetus at an early stage and to prepare for possible treatment and support. But about 90 percent of the pregnant women whose fetuses were diagnosed as having chromosome abnormalities have reportedly chosen abortion.
Behind the move to ease the conditions on institutions that can perform the tests — and the division among medical organizations — is the growing numbers of private clinics that defy the voluntary rules and offer the tests without being authorized by the medical sciences association. Such clinics, which reportedly began offering the tests around 2016, may indeed be performing the tests on more pregnant women than the certified institutions each year. Some of the women who took the tests at such clinics and were told that their fetuses had chromosome abnormalities were reportedly not given sufficient explanations or counseling on the results and, after being at a loss as to what to do with their diagnosis, visited the certified institutions to ask for help.
In response to the problem, the Japan Society of Obstetrics and Gynecology in March came up with a draft revision to the rule to ease requirements on the institutions authorized to perform the tests. Under the proposed rule, clinics and other institutions to be newly authorized as “partner facilities” would not need to have a genetic specialist on staff, and they would be allowed to perform the tests if they are staffed with obstetrics and gynecology specialists who have completed JSOG-designated training courses. If the tests at such facilities point to the possibility of chromosome abnormalities, “core” institutions that qualify under the old guidelines would provide counseling to the women and their families.
However, the Japan Pediatric Society and the Japan Society of Human Genetics have raised objections to the revision. And as the divisions between these medical organizations could not be bridged, the health ministry decided to intervene, announcing a plan in June to launch discussions at its panel of experts to sort out the issues over the prenatal diagnosis. The JSOG has since said it will put its draft plan on hold. The health ministry first plans to probe the number of tests performed by unauthorized clinics, the cost of the tests given at such facilities and whether or how they offer counseling to the women taking the tests. The information that is gathered should will serve as a basis for the expert panel’s discussions that will take place this fall.
People’s interest in prenatal diagnosis is said to be increasing as more women give birth to their first child at a relatively advanced age. Currently the new type of prenatal diagnosis is performed only on three kinds of chromosome abnormalities, but due to rapid advances in testing technology it is forecast that such diagnoses in the future will examine the risk of a wider range of illnesses in fetuses. The upcoming discussions at the health ministry panel should cover various aspects of the medical technology, including any possible ethical issues.