Current Status and Future Prospects of NIPT in the International Community

Introduction

Traditional prenatal tests such as chorionic villus sampling and amniocentesis have been used to detect fetal chromosomal and genetic abnormalities. However, these invasive testing methods carry a slight risk of miscarriage and maternal complications.

In contrast, Non-Invasive Prenatal Testing (NIPT), which has gained worldwide attention since clinical trials began in Hong Kong in 2011, involves a diagnostic method using maternal blood sampling, causing minimal to no impact on the mother and fetus.

This article explores the commercial and ethical issues associated with NIPT as perceived in the international community.

Commercialization of NIPT

NIPT was introduced in late 2011 in the United States and Western Europe, and experiments for rapid adoption have been conducted in regions like the Middle East, South America, and Southeast Asia. By 2012, the commercial profits had reached $220 million, and it is projected that by 2019, it would soar to $3.62 billion.

However, despite its widespread adoption, the cost of NIPT remains high compared to traditional invasive tests. This disparity poses a significant financial burden, particularly for uninsured individuals in countries like the United States.

In China, the cost of NIPT ranges from $457 to $587 USD, whereas the traditional invasive amniocentesis costs about $326 USD. In Brazil, NIPT costs approximately $1,492 USD (¥16,0000 JPY), while amniocentesis costs $426 USD (¥46,000 JPY).

Both countries face issues where NIPT is not covered by private or state insurance plans, necessitating users to bear the full cost of testing themselves.

NIPT and Developing Countries

In Low- and Middle-Income Countries (LMICs), there is a significant regional disparity in the adoption rates of NIPT (Non-Invasive Prenatal Testing) compared to high-income countries.

This disparity arises because access to information about NIPT, as well as the financial resources necessary to afford it, are limited primarily to the upper and middle classes in urban areas. Consequently, residents in urban slums and rural areas have significantly reduced access to NIPT due to these regional disparities.

Furthermore, in developing countries, there is generally less emphasis on prenatal testing because the incidence of genetic disorders in newborns is lower compared to high-income countries. This is partly due to higher rates of childbirth at younger ages among women in developing countries. For instance, as of 2006, the childbirth rate among women aged 35 and older in India was 2-5%, compared to approximately 8% in the United States. However, exceptions exist, particularly in Middle Eastern countries where the rate of childbirth among women aged 35 and older is also high, influenced by relatively higher rates of consanguineous marriage, contributing to a higher incidence of genetic disorders.

Nevertheless, as these developing countries experience economic growth, the average age of first-time mothers is expected to rise. Consequently, there will likely be an increasing need to improve the prevalence of prenatal testing.

Additionally, in many developing countries, cultural and religious factors contribute to the perception of pregnancy as sacred, leading to instances where traditional invasive testing methods are refused. The introduction of NIPT is expected to increase the practical adoption rate of prenatal testing in these regions.

Ethical Issues of NIPT

NIPT is often not covered by private or social insurance in many Low- and Middle-Income Countries (LMICs).

This disparity means that while higher-income households can afford safe and accurate prenatal testing, lower-income families may face the choice of undergoing traditional invasive tests with inherent risks or foregoing prenatal testing altogether.

As a result, children born into higher-income families are more likely to be born healthy, whereas children in lower-income families face higher probabilities of being born with genetic disorders or other conditions, potentially widening the gap between these socioeconomic groups.

Moreover, in some LMICs, the birth of a child with disabilities is often viewed as a burden, highlighting one of the ethical dilemmas associated with NIPT.

In China, for instance, a survey conducted in 2003 found that approximately 83% of surveyed women would choose to terminate a pregnancy if the fetus were diagnosed with a genetic disorder.

The widespread adoption of NIPT could lead to an increase in requests for terminations in regions where abortion is restricted, potentially resulting in illegal and unsafe abortion practices.

Additionally, there is concern that the increasing minority status of individuals with disabilities could lead to neglect of necessary services and support systems tailored to their needs.

Future Challenges for the International Adoption of NIPT

It is a concern across various countries that as more physicians seek to acquire NIPT technology, there may be a decrease in the number of physicians proficient in performing traditional invasive prenatal tests at a high standard. This shift could potentially create a more challenging situation for low-income families, considering the balance between income levels and the cost of NIPT testing, as mentioned earlier.

Regarding the reduction in the number of invasive tests performed, reports from certain clinics in the United States indicate a 50% decrease in traditional amniocentesis and chorionic villus sampling procedures following the introduction of NIPT tests. This trend could compromise the quality of invasive tests further, thereby increasing the relative risk of miscarriage for patients undergoing them.

Furthermore, considering the potential for decisions such as selective abortion based on test results, as mentioned earlier, clinicians performing NIPT tests must also ensure adequate counseling from an ethical standpoint beforehand. There is a shortage of genetic counselors, particularly in low-income countries, highlighting the need not only for the technical dissemination of NIPT but also for the concurrent development of physicians with appropriate genetic literacy.

Given the current costs of NIPT and the budget required for genetic counseling education, ensuring appropriate prenatal testing, including for low-income families, may necessitate further technological innovations to lower the cost of NIPT while maintaining the standards of traditional invasive tests. However, considering the infrastructure challenges in LMICs, it is unlikely that governments have the financial flexibility to prioritize these expenses, leading to discussions about integrating NIPT into public health as a viable solution.

References

• Forum on Fetal Skeletal Disorders - What is Non-Invasive Prenatal Testing (NIPT)? Where to Go? Part 1
• NLM - Non-invasive prenatal testing: a review of international implementation and challenges
• NLM - Noninvasive Prenatal Testing Goes Global
• Eubios Ethics Institute - Chinese people's attitudes towards genetic diseases and children with handicaps