Balancing Equity and Autonomy: The Utilitarian Case for the Public Funding of Non-Invasive Prenatal Testing in Hong Kong

Abstract

Non-invasive prenatal testing (NIPT) demonstrates superior performance compared to conventional screening methods currently available within Hong Kong’s public healthcare system. Nevertheless, the substantial costs associated with NIPT render it inaccessible for much of the population, leading to ethical debates surrounding public funding. A conflict emerges between the imperative to allocate limited resources efficiently and the obligation to uphold ethical principles of equity and reproductive autonomy within the public healthcare system. Adopting a utilitarian-based approach, this chapter initially presents three central arguments suggesting that NIPT can be ethically integrated into the public healthcare system. Subsequently, the discussion examines the challenges associated with incorporating NIPT into Hong Kong’s strained public healthcare system. To address these challenges, we propose two potential solutions: (1) introducing NIPT as a second-tier screening test for high-risk pregnancies, or (2) offering NIPT through public-private partnerships, which would alleviate the demand on public sector resources. Implementing a nominal fee for NIPT adheres to the principle of impartiality in public resource allocation, ensuring equitable decision-making without favoring specific population groups. Ultimately, the future of NIPT in Hong Kong necessitates expanding its availability, enhancing its accuracy, and incorporating it into comprehensive prenatal care. This approach will support the reproductive autonomy of pregnant women and promote accessible healthcare.

1. Introduction

1.1 Non-invasive prenatal testing: background, clinical application, and accessibility in Hong Kong

Non-invasive prenatal testing (NIPT) is a screening test that involves analyzing the fetal genome using cell-free fetal DNA (cfDNA) samples from maternal blood. The term “non-invasive” refers to the method of obtaining the cfDNA sample; during pregnancy, the fetus releases some of its DNA into the maternal bloodstream, which can be analyzed through testing a blood sample obtained from the mother to assess for the presence of chromosomal abnormalities and determine the baby’s risk for a number of genetic disorders [1]. The relative frequencies of Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18), and Patau’s syndrome (Trisomy 13) in the general population are 1 in 500, 2.3 in 10,000, and 1.4 in 10,000, respectively [2].

Before the invasive confirmatory diagnostic tests, the Hospital Authority of Hong Kong currently provides two prenatal screening tests specific to the trimester of pregnancy as first-tier screening tests for assessing the risk of Down’s syndrome. These tests involve ultrasound scans and blood tests and are offered during the first and second trimesters of pregnancy. The first-trimester screening test is conducted at 11–13 weeks and detects approximately 80–90% of Down’s syndrome pregnancies. The second trimester screening is conducted for pregnancies between 14 and 20 weeks and detects around 80% of Down’s syndrome pregnancies. However, when compared with NIPT, these two prenatal screening tests are less accurate and more time-consuming. NIPT offers several advantages over the conventional screening tests [3]. It is more accurate and reliable, with relatively low false-positive rates [1]. Additionally, NIPT is much safer than invasive prenatal diagnosis tests or chorionic villus sampling (CVS), which are usually performed at later gestational periods in the second trimester (12–20 weeks). NIPT can be performed as early as 10 weeks of pregnancy, and the results can be obtained within 5–7 days.

Currently, NIPT is not offered by the Hospital Authority of Hong Kong but can be accessed through the Chinese University of Hong Kong Fetal Medicine Private Clinic and other private clinics. This screening test is most often provided on a self-financed basis as prenatal screening, costing around 5000 HKD in private clinics. Private practitioners and commercial laboratories provide most of these services [4]. However, due to the high cost of the test, few women or couples can afford it. The public funding of NIPT could enable all women and couples to have equal access to NIPT and ensure that their reproductive autonomy is not limited by their financial status.

1.2 Aims of this chapter

Given the Hospital Authority’s ongoing efforts to introduce NIPT into public maternal services, this chapter aims to conduct a utilitarian-based analysis of the ethical issues relevant to the local context of Hong Kong, to examine compelling arguments for the matter. Specifically, in a prior discourse [5], we highlighted the necessity for a theory-driven framework to facilitate the ethical implementation of NIPT as a screening modality. This chapter builds upon our previous discussion and extends the scope of the conversation to encompass the pragmatic aspects of enacting utilitarian-based arguments within a public healthcare system.

2. Overview of public and private prenatal care in Hong Kong

The healthcare system of Hong Kong is a dual-track system comprising private and public sectors, overseen by the Department of Health and the Hospital Authority respectively. Primary care is largely provided by private doctors, who offer more prompt service but at increased cost. In contrast, the public sector furnishes comprehensive care and serves as the main provider of secondary and tertiary healthcare, including outpatient clinics and general hospitals. Expectant mothers accessing the private system can choose and consistently consult with the same physician and hospital, albeit at significantly higher fees. Under the current system, women may utilize a combination of both sectors, obtaining prenatal examinations and supplemental ultrasounds from the public system while also visiting a preferred private doctor.

In the public sector, the Obstetrics and Gynecology Departments of hospitals under the Hospital Authority collaborate with the Maternal and Child Health Centers (MCHCs) of the Department of Health to provide affordable antenatal shared-care to expectant mothers, costing just a few hundred dollars. This includes health education, maternal and fetal health checkups, tests and ultrasounds, labor, birth care, and aftercare for mothers and babies. Expectant mothers receive specialist care from healthcare professionals and attend regular antenatal checkups at a nearby MCHC. Antenatal care also includes routine screening tests for Universal Down’s Syndrome and Group B Streptococcus, with additional tests conducted for expectant mothers with abnormal results or special clinical needs. In the public sector, midwives attend most of the births. Although public maternity care is less expensive, the wait at government maternal clinics can be long and appointments are often brief.

3. Ethical issues and competing values related to NIPT

The ethical issues related to NIPT result from the question of whether the introduction of NIPT to the public healthcare system conforms to ethical values, which sometimes compete with one another. These ethical values are crucial to the assessment of medical ethics:

3.1 Choice, autonomy, and informed consent

A foundational ethical principle in medicine is respecting patient autonomy through informed consent. This means patients should make voluntary decisions regarding medical tests and procedures based on comprehensive, unbiased facts presented in clear, understandable language. Consent cannot be considered fully informed if patients do not adequately comprehend the information furnished to them.

With innovative prenatal genetic tests like NIPT, clinicians have an obligation to take extra care in educating expectant mothers on how the procedure works, what conditions it screens for, its benefits and limitations, and possible test results. This empowers women to make autonomous, informed choices about their pregnancy care. However, achieving truly informed consent for NIPT poses challenges. Complex genetic terms must be explained in plain language that patients can understand. The conditions screened for should be clearly described so patients fully comprehend what is being tested. Patients must also understand that NIPT is a screening tool, not a diagnostic test, and have its limitations clearly explained. Additionally, they need to grasp the possible results and options available following different outcomes.

To overcome these challenges, clinicians are advised to take time to explain NIPT and associated concepts in straightforward, easy-to-understand language at approximately a 5th grade reading level. The goal is to present information on NIPT in a way that facilitates patient comprehension while still maintaining medical accuracy. Using language appropriate for a 5th grade reading level allows the use of common, everyday words while avoiding patronizing oversimplification. Going lower than 5th grade risks distorting key details and sacrificing important nuances. For clinicians’ consideration, specific techniques to improve patient understanding include breaking down complex terms and explaining genetic concepts simply, using graphics or illustrations to demonstrate how NIPT works, and having patients explain their understanding of what NIPT is, how it works, its purpose, benefits, and limitations. Any gaps or inaccuracies in patient explanations can be clarified by reviewing the information again. This process may be repeated, depending on patients’ level of understanding. Clinicians may ask patients to teach back certain key facts about NIPT to demonstrate reasonable comprehension prior to making an informed decision about consenting to the test.

3.2 Avoidance of harm (non-maleficence)

It is the responsibility of the government to minimize or eradicate any harm caused by healthcare interventions, whether they are provided in public or private sectors. This duty involves ensuring that healthcare providers adhere to safety guidelines and take necessary steps to prevent harm to patients.

3.3 Equality, inclusion, and fairness (justice)

The government is obligated to uphold equality and fairness by implementing policies that combat prejudice, bias, and discrimination. A crucial aspect of fulfilling this duty is ensuring that public funds are fully utilized for these purposes.

The advent of non-invasive prenatal testing (NIPT) has raised several ethical concerns regarding the tension between enhancing individual reproductive autonomy and protecting the interests of society as a whole. On one hand, NIPT promotes pregnant women’s reproductive autonomy by furnishing them with information to make informed choices about their pregnancies. However, this autonomy relies on access to unbiased details about the test and the conditions screened. Furthermore, some ethicists worry that NIPT could infringe on the future autonomy of fetuses as individuals. NIPT may also reduce harm by replacing more invasive procedures, but inaccurate results could negate this benefit by causing undue anxiety and prompting further testing. Moreover, a significant reduction in the incidence of genetic conditions due to NIPT could diminish research funding and services for affected groups, potentially marginalizing them. Conversely, by empowering informed reproductive choices, NIPT could promote equality. However, funding NIPT publicly could conflict with fair resource allocation. Additionally, NIPT may set narrower boundaries on what constitutes a healthy pregnancy, stigmatizing disabled individuals and families. Overall, realizing the benefits of NIPT while mitigating ethical pitfalls will require nuanced policymaking that balances individual rights and ethical values.

4. Integrating NIPT into the public healthcare system: a utilitarian lens

Utilitarianism is an ethical theory that evaluates actions based on their consequences. As originally formulated by Jeremy Bentham in the eighteenth century, utilitarianism aims to maximize overall happiness by quantifying the utility of each action’s positive and negative effects on the people involved [6]. John Stuart Mill later refined utilitarianism in the nineteenth century by emphasizing the qualitative aspects of happiness and considering the social utility of actions, not just individual utility [7]. There are two main branches of utilitarianism: act utilitarianism judges individual acts based on their utility, while rule utilitarianism focuses on adhering to moral rules that tend to produce the greatest utility overall [8, 9].

When considering public funding for non-invasive prenatal testing (NIPT), utilitarianism provides a useful framework for weighing the potential benefits and harms. Widespread access to NIPT through public funding could maximize utility by empowering pregnant women to make informed reproductive choices and detect fetal abnormalities early in pregnancy. However, the unlimited use of NIPT may negatively impact societal welfare if applied unethically, such as for sex selection of fetuses based on certain cultural preferences. Therefore, a utilitarian approach would support implementing rules and limitations on NIPT usage to ensure it promotes the greater good. The principle of beneficence, emphasizing the well-being of pregnant women, should be central when formulating healthcare policies on NIPT provision. With appropriate safeguards in place, offering NIPT through a public healthcare system can be ethically justified under utilitarianism by maximizing its advantages for the population while minimizing the risks of misuse.

For the ethical use of NIPT in public healthcare, three arguments have been established.

4.1 Argument 1: pregnant women who opt for NIPT after informed decision-making should be provided with the test since it is a reliable and valid prenatal screening tool. NIPT offers essential information that empowers women to make autonomous decisions regarding their reproductive health

Argument 1 is based on the fact that NIPT offers pregnant women reliable and accurate information about fetal aneuploidy in the early stages of pregnancy. A recent meta-analysis of high-quality data has shown that NIPT has a high degree of accuracy in detecting trisomy 13, 18, and 21 across various obstetrical populations [10]. Additionally, a negative result [11] from NIPT is highly dependable and provides reliable information about fetal aneuploidy as early as the 10th week of pregnancy. Furthermore, results from NIPT are typically available within 7 days [12]. Therefore, NIPT empowers pregnant women to make informed reproductive choices by facilitating the decision-making process [13, 14, 15]. Indeed, NIPT allows pregnant women more time to consider other prenatal tests or reproductive interventions, as a positive result from NIPT is informative enough to make decisions even without follow-up confirmatory testing. This longer period for decision-making allows for thoughtful consideration of available options, earlier monitoring of fetal development, consulting relevant professionals to address any concerns related to a positive result, and the chance to plan and make arrangements for the delivery and care of a child with a disability.

Argument 1 asserts that undergoing NIPT should be a matter of informed choice, as pregnant women have the right to decline information about fetal aneuploidy, even if present. An informed choice is a decision based on relevant knowledge, consistent with the decision maker’s values, which is behaviorally implemented [15, 16] and crucial for enhancing reproductive autonomy [17, 18, 19]. Being informed allows pregnant women to make a choice that respects their right not to know, as they should be made aware that the results of the NIPT may lead them to face unexpected choices, which they might want to avoid [20]. A pregnant woman should understand the scope, limits, purpose, potential risks, and implications of NIPT [21]. The absence of an informed decision regarding NIPT can compromise reproductive choices and autonomy for women [20].

4.2 Argument 2: NIPT should be delivered based on its favorable utility profile, and non-directive genetic counseling should be provided before and after the testing process

Undergoing NIPT for prenatal screening of fetal aneuploidy has the potential to bring a variety of benefits to pregnant women, as well as some risks [20, 22]. These benefits include reduced maternal anxiety over fetal health if the test yields a negative result [17], a lower need for invasive follow-up tests with their associated 0.1–0.2% risk of miscarriage [17, 23], and a reduced likelihood of unanticipated births of children with aneuploidy [24]. NIPT also enables less physically risky and less emotionally traumatic decisions regarding the termination of pregnancy at an earlier stage [25], and it can be performed without an upper limit for gestational age, allowing women who present late for their first prenatal visit to take the test without resorting to other screening modalities with lower sensitivity and specificity rates [26]. Undergoing NIPT is associated with significantly less fear of pain and discomfort compared to amniocentesis or CVS [27], and it could be offered in more settings compared to invasive methods; indeed, a maternal blood sample can be obtained by a nurse while obtaining samples for CVS and amniocentesis require the specialized skills of a physician [28, 29]. Furthermore, it allows women to prepare for an affected child, and it may be used as a preliminary test to help women in deciding if they wish to engage in further invasive tests [30].

However, potential risks may also be present, such as unreliable test results leading to misguided optimism [19, 24]. While reproductive geneticists consider false-negative results from NIPT to be uncommon, false-positive outcomes (with a probability of around 0.1%) can occur due to factors like placental mosaicism, obesity in the person being tested, presence of a maternal tumor, or ethnicity, particularly if the person is of Afro-Caribbean descent. Additional concerns may also arise from incidental findings that lack clear clinical significance. Despite these risks, ethicists generally agree that NIPT displays a superior and advantageous utility profile as a prenatal screening test [17]. Serious professional organizations including the American College of Obstetrician and Gynecologists, the International Society for Prenatal Diagnosis, and the National Society of Genetic Counselors endorse the implementation of NIPT in prenatal screening within healthcare systems. They suggest that the advantages and usefulness of NIPT outweigh the associated risks for pregnant women [31].

The normative claim for Argument 2 is that, from a utilitarian perspective, the offer of a prenatal screening test is ethically justified if it maximizes utility with minimal associated risks. In other words, the morally right action is the one that produces the most favorable balance of good over evil. The utilitarian view for NIPT in prenatal screening is that offering NIPT within the public healthcare system is ethical depending on how we can maximize the benefits of NIPT while minimizing the associated risks. The ethical framework of the United Nations Educational, Scientific, and Cultural Organization aligns with this utilitarian perspective and stipulates that for a prenatal testing offer to be ethically acceptable, the benefits or utility, in this case, must outweigh the drawbacks [18].

Along with the compelling and advantageous utility profile of NIPT, non-directive genetic counseling before and after the testing is also recommended. This would help to maximize positive outcomes and reduce unwanted risks, aligning with the utilitarian’s perspective on the ethical implications of offering NIPT in a public healthcare system. Several studies have demonstrated that pre-test and post-test counseling by trained professionals can help pregnant women exercise autonomy in making reproductive decisions regarding the acceptance of a positive or negative NIPT result [19, 22, 32, 33, 34].

4.3 Argument 3: utilitarianism favors the offer of NIPT with a small fee, and for the less financially capable group of pregnant women, government subsidies should be provided to maximize the number of beneficiaries

According to this argument, offering free-of-charge NIPT may not necessarily provide the highest utility for pregnant women. Requiring a nominal fee from test recipients is more appropriate as it discourages ill-considered testing, which could undermine the usefulness of the test. Some literature has expressed concern about the adverse ethical consequences of ill-considered testing, especially with regards to the primary objective of NIPT to promote reproductive autonomy [20]. Research suggests that asking women to pay for prenatal screening enhances their awareness related to the need to make an informed choice before undergoing the test [35].

Government subsidies for NIPT for less financially capable pregnant women may broaden the scope of beneficiaries within the public healthcare system. Some studies have theorized that reproductive health is a collective responsibility, and that governments have a role to play in promoting reproductive health at a population-wide level [17, 36]. Utilitarianism should support the provision of government subsidies to enable economically disadvantaged groups to undergo NIPT, facilitating access to NIPT for the largest possible number of women who could potentially benefit from the test.

Beyond the advantageous utility profile of NIPT, utilitarianism requires that the maximum number of pregnant women should derive benefits from the test. While some may argue that the proposed small fee for NIPT may lead to the marginalization of less financially capable women, this underscores the idea that maximum utility can only be achieved through unrestricted availability of the test, with the local government (i.e., taxpayers) assuming the societal cost of providing fundamental prenatal care. Offering free-of-charge NIPT may result in hasty decisions, impeding the desired effect of promoting reproductive autonomy. Therefore, utilitarians would agree that providing government subsidies to financially disadvantaged women may be necessary to expand to a larger base of beneficiaries who can access the test while providing a safety net for those who need it.

5. Enabling choices and reproductive autonomy amid healthcare system’s finite resources

As indicated by prior research [20], non-invasive prenatal testing (NIPT) serves not as a means to reduce the birth of children with Down’s syndrome, but rather as a tool to support women’s autonomy in reproductive decision making. NIPT carries broader societal implications beyond merely evaluating the risks and benefits for expectant mothers. However, within the context of Hong Kong’s constrained public healthcare system due to limited human resources, exclusively offering NIPT through public healthcare services without alternative measures would compromise autonomy and choice. Given the inadequate pre-test and post-test counseling resources for pregnant women, they may feel compelled to make certain decisions based solely on test outcomes, rather than exercising free choice regarding reproductive autonomy. In terms of cost effectiveness, providing NIPT to all expectant mothers within a strained public healthcare system is not a fiscally prudent decision. One potential solution for maximizing NIPT’s social utility in light of healthcare resource challenges is the establishment of public-private partnerships.

Hong Kong’s public health services, particularly secondary and tertiary care, are increasingly transitioning aspects of service delivery to private sector involvement. Notable examples include the 2008 Cataract Surgery Program, a public-private partnership in which participating patients receive approximately 5000 HKD subsidy for cataract surgery performed by private ophthalmologists, and the 2010 Hemodialysis Public-Private Partnership Program, which enables eligible patients with end-stage renal disease to access financially subsidized services from private hemodialysis providers. Similarly, the operational philosophy and model of these programs could be applied to NIPT, allowing pregnant women to choose between subsidized private sector care or public sector care. This strategy not only grants pregnant women greater autonomy of choice but also alleviates the burden on the public healthcare system and optimizes NIPT’s social utility.

When incorporating NIPT into Hong Kong’s existing public healthcare system, it is prudent to consider the limitations of resources, particularly human resources. Additionally, providing adequate pre-test and post- test counseling may be challenging due to the myriad possible outcomes associated with false-positive Down’s syndrome screening results. If NIPT were to replace current prenatal screening tests as first-tier screening tests, a sudden surge in demand for the highly sought-after genetic counseling service would likely ensue. Without access to well-informed, accurate, and balanced information about NIPT, satisfying the first two established arguments would prove difficult. This concern can be addressed by introducing NIPT as a second-tier screening test for women whose first-tier ultrasound scans and blood tests indicate a risk of congenital abnormalities in their unborn child. Alternatively, when employing NIPT as a first-tier screening test, it could be offered through public-private partnerships akin to the Cataract Surgery Program. This approach would substantially reduce public sector demand for NIPT, allowing existing public resources to meet the demand.

Regarding the third argument, it is unlikely that requiring pregnant women to pay a nominal fee for the favorable utility profile would encounter significant public objection, as the number of affected women would be relatively small. Moreover, imposing a fee would support the principle of impartiality in public resource allocation, ensuring fair and just decision-making that balances the interests of various population groups without demonstrating partiality or preference towards specific individuals. The future trajectory for NIPT in Hong Kong may involve expanding its availability, enhancing its accuracy, and integrating it more fully into routine prenatal care. This development has the potential to contribute to more comprehensive and accessible prenatal care for pregnant women in Hong Kong.

6. Conclusion

To maximize the social utility of NIPT as a prenatal screening modality within Hong Kong’s public healthcare system, it is crucial to address ethical considerations, public funding, and resource allocation. Utilitarianism presents three arguments that can guide public policymakers in ensuring the optimization of NIPT’s social utility over time.

Introducing NIPT into Hong Kong’s public healthcare system poses challenges due to limited resources, particularly human resources. Providing adequate pre-test and post-test counseling could be challenging (for example, due to the multitude of possibilities associated with false-positive Down’s syndrome screening results). If NIPT were to replace current prenatal screening tests as first-tier screening tests, a sudden surge in demand for the highly sought-after genetic counseling service would occur. Without access to well-informed, accurate, and balanced information about NIPT, satisfying the first two established arguments becomes difficult. This concern can be addressed by introducing NIPT as a second-tier screening test for women whose first-tier ultrasound scans and blood tests indicate a risk of congenital abnormalities in their unborn child. Alternatively, when employing NIPT as a first-tier screening test, it could be offered through public-private partnerships, greatly reducing the demand for NIPT in the public sector and allowing current public resources to cope with the demand. Regarding the third argument, it is unlikely that requiring pregnant women to pay a nominal fee for the favorable utility profile would encounter significant public objection, as the number of affected women would be relatively small. Moreover, imposing a fee would support the principle of impartiality in public resource allocation, ensuring fair and just decision-making that balances the interests of various population groups without demonstrating partiality or compassion towards specific individuals.

In conclusion, providing NIPT to all expectant mothers in Hong Kong through public healthcare services may not represent the most viable solution due to limited resources. However, public-private partnerships offer a pragmatic alternative that addresses the challenges posed by the strained public healthcare system and supports women’s reproductive autonomy. By following the examples of the Cataract Surgery Program and the Hemodialysis Public-Private Partnership Program, NIPT can be made more accessible, integrated into routine prenatal care, and alleviate public healthcare resource burdens. This strategy grants pregnant women greater autonomy of choice and ensures that NIPT’s social utility is maximized. Ultimately, the future of NIPT in Hong Kong lies in expanding its availability, enhancing its accuracy, and integrating it into comprehensive prenatal care, thus supporting the reproductive autonomy of pregnant women and fostering more accessible healthcare.

Conflict of interest

The authors declare no conflict of interest.

Funding

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