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Current Status and Prospects of NIPT in the International Community

Current Status and Prospects of NIPT in the International Community

NIPT has been spreading around the world at an accelerated pace since clinical trials began in Hong Kong in 2011, and is attracting increasing attention because it uses a diagnostic method of blood sampling from the mother, which has almost no effect on the mother or fetus.

Introduction.

Conventionally, prenatal testing for chromosomal and genetic abnormalities in the fetus has included chorionic villus and amniotic fluid tests.

However, these intrusive testing methods have the disadvantage that there is a slight risk of fetal miscarriage and the mother developing complication symptoms.

On the other hand, NIPT, which has been spreading around the world at an accelerated pace since clinical trials began in Hong Kong in 2011, has been attracting increasing attention because it uses a diagnostic method of blood sampling from the mother, which has almost no effect on the mother or fetus.

This article will introduce the commercial and ethical issues of NIPT from the perspective of the international community.

NIPT to be commercialized

NIPT has already been introduced in the United States and Western Europe, among others, in late 2011, and has been rapidly experimented with for introduction in the Middle East, South America, and South and Southeast Asia, where its commercial benefit was US$220 million in 2012 and will amount to US$3.62 billion in 2019, at the time of this writing.

However, while it is becoming more widely used, the cost of NIPT remains high compared to the cost of conventional invasive testing, and even in the U.S. and other countries, the cost is too high for uninsured people to pay.

In China, the cost of NIPT is $457-587 in US dollars, while the cost of amniotic fluid testing, a conventional invasive test, is about $326. In Brazil, the NIPT test is $1492 in US dollars (about 160,000 Japanese yen) and the amniotic fluid test $426 (about 46,000 Japanese yen).

These two countries also have the problem that NIPT is not covered by private or state insurance, so users must pay the full cost of the test on their own.

NIPT and Developing Countries

In LMIC (Least Developed Countries), regional disparities in NIPT coverage are greater than in high-income countries.

This is because only a small percentage of the upper and middle classes have the education level and assets to access the NIPT information in the first place, and residents living in urban slums and rural areas are significantly less likely to be able to take the NIPT test due to regional disparities.

Another aspect is that in developing countries, the incidence of fetuses born with genetic diseases is lower than in high-income countries, so prenatal testing is not emphasized in the first place.

This is because women in developing countries give birth at a younger age, and as of 2006, in India, the birth rate for women over 35 years old was 2-5%, while in the U.S. it was about 8%, with the exception of Middle Eastern countries, where the birth rate for women over 35 is also high, and a relatively high percentage of consanguineous marriages also result in higher rates of hereditary diseases.

However, as the economies of these developing countries grow, the average age of first childbirth will increase.

In many developing countries, many women consider pregnancy to be sacred due to religious and cultural aspects, and there have been some cases of women refusing to undergo conventional intrusive testing.

Ethical Issues in NIPT

NIPT is often not covered by private or social insurance in many least developed countries.

The concern is that the high-income process will allow for safe and accurate prenatal testing, while lower-income families will increasingly have the option of performing traditional, risky, invasive testing or not having the prenatal test done at all.

This could lead to greater disparities among these classes, as children from higher income groups have a higher probability of being healthier children, while children from lower income groups have a higher probability of being born with conditions such as genetic diseases.

Another ethical problem facing NIPT is that handicapped child birth is often considered a burden by some LMICs.

In China, in a 2003 interview survey, about 83% of the women surveyed said they would choose to have an abortion (if their child were diagnosed with a genetic disease).

It has been pointed out that what these mean is that as more advanced prenatal testing becomes available with the spread of NIPT, more women will seek abortions, and with that, more women will have illegal and risky abortion procedures in areas where abortion itself is prohibited.

There is also a concern that as people with disabilities become more of a minority in society, the actual implementation of systems and services that take them into account will be neglected.

Future Challenges for International NIPT Dissemination

This is true in all countries, but there is some concern that as more physicians seek to master the NIPT technique, fewer physicians will be able to handle conventional invasive prenatal testing techniques at a high level, and the combination of income and the cost of NIPT testing, as mentioned earlier, may make things more difficult for families in lower income brackets.

With regard to the decrease in the number of invasive tests performed, one U.S. clinic actually reported a 50% decrease in the number of conventional amniocentesis and chorionography tests performed after the introduction of NIPT testing. If the quality of invasive testing is increasingly compromised by this, the relative risk of miscarriage for the patients who perform it also increases.

In addition to the above, as mentioned earlier, the clinician who performs NIPT needs to provide sufficient counseling in advance from an ethical standpoint, considering the possibility that the patient may consider abortion, including sex selection, depending on the test results.

The number of genetic counselors is in short supply (especially in low-income countries), and we must consider not only the technical dissemination of NIPT but also the concurrent training of physicians with appropriate genetic literacy.

Considering the current budget for NIPT costs and training of genetic counselors, it may be necessary to push for further technological innovation to make NIPT affordable, while at the same time maintaining the traditional standard of intrusive testing, in order for families, including those in low-income brackets, to have access to appropriate prenatal testing.

Nevertheless, it is unlikely that governments can afford to spend that much in LMIC, considering that the infrastructure needs to be set up first, so there is some discussion about including NIPT as a branch of public health.

References