Prenatal genetics in global context

Brocher workshop group photo

We’re thrilled to announce the publication of our article summarizing insights from our Brocher Foundation workshop! In December 2015, we held a workshop at the Brocher Foundation in Geneva, Switzerland, on “Non-Invasive Prenatal Testing in the Non-Western Context.” With the participation of experts from around the world, we spent four days learning about the diverse social, economic, political, and cultural contexts in which prenatal cfDNA screening is being introduced globally, and discussed approaches to promote equitable and socially appropriate implementation. Our new article, published in the Hastings Center Report, shares 8 key insights emerging from that workshop.

1. Patient decision-making: the limits of autonomy. While we all valued women’s right to make their own decisions, we also recognized that prenatal testing decisions are often made as much by families as by individual women. In some social contexts, prenatal cfDNA screening could increase pressures from families and providers for women to make socially acceptable choices. We were reminded, again and again, that “autonomous” decisions are always socially embedded and relational.

2. Abortion. In contexts in which abortion is prohibited or access is limited, prenatal cfDNA screening could put women in difficult situations in which they may suffer physical harm from attempting an illegal abortion, and/or psychological harm from a lack of access to all reproductive choices. Legal restrictions on abortion are also mediated by socioeconomic factors; women may be “free” to choose termination, but still have little access due to geographical isolation, social limitations, or poverty.

3. Sex selection or “family balancing”. Prenatal cfDNA makes sex selection much easier. Even in places where such uses are prohibited, such as China and India, sex information can be obtained through illegal channels. Reports have also emerged of couples (or just their genetic samples) traveling to more permissive locales to gain access to sex information. Yet we also recognize that “family balancing,” which is largely accepted in Western contexts, is less distinct from other forms of sex selection than it may seem.

4. Different thresholds for disability: socioeconomic and cultural influences. The relationship between prenatal cfDNA screening and disability came up repeatedly during our workshop, as we struggled to understand the ways that disability was supported and avoided in different contexts. While North America and Europe have seen a recent rise in disability rights and support, in some other contexts a lack of social and economic resources mean that families face hard choices about their ability to raise a child with a disability. As more conditions are potentially screened for prenatally, societies with limited options for disability support will face difficult ethical and political choices in responsibly implementing these new technologies.

5. Prevalence of genetic conditions: beyond Down syndrome. The current emphasis on screening for Down syndrome and other aneuploidies likely reflects the Western contexts in which prenatal cfDNA screening has largely emerged. However, this technology holds the potential for transformative change in its ability to detect hemoglobinopathies (such as sickle cell anemia and thalassemias), which are a more common and serious health concern in many parts of the world. With the global spread of cfDNA will likely come a reordering of priorities to reflect regional health priorities.

6. Economic realities. The rapid global diffusion of prenatal cfDNA screening has been fueled by commercial interests in the huge market potential for prenatal testing. But the high cost of this cutting-edge technology means that it remains largely in the private health sector, despite recent decisions to cover prenatal cfDNA with public health funds in the UK and some US states. National and regional health systems with greater economic limitations are not likely to fund prenatal cfDNA publicly for some time, and when and if they do, it will entail difficult trade-offs with other public health needs.

7. Impact of commercialization on ethical care. Participants in our workshop shared stories of aggressive marketing techniques being used to promote prenatal cfDNA screening, including efforts to offer the tests directly to consumers. Although cfDNA is only available as an out-of-pocket cost in most resource-poor areas, marketing pressures continue on front-line, non-specialist prenatal health care providers, and on women–particularly middle-class women who may hear about the test from friends or on the Internet. This aggressive marketing may mislead women and providers with little access to independent sources of information, and skew prenatal care priorities away from more practical and cost-effective health concerns.

8. Informational needs and resources. North American and European professional guidelines for the implementation of prenatal cfDNA screening all recommend pre- and post-test counseling to facilitate informed decision-making about the test and its results. But genetics professionals are in short supply even in these high-income countries, and in low- and middle-income contexts, access to genetic specialists is often non-existent. Local health care providers will thus bear the burden of patient education and counseling, but often are unprepared for this responsibility and lack locally appropriate informational resources. Recognizing that genetic specialists will continue to be a rare commodity, the priority at this stage should be independently produced, culturally appropriate informational resources for both front-line providers and their patients.

This publication represents only the beginning of global efforts to guide the ethically and socially appropriate implementation of prenatal cfDNA screening. We continue to draw upon the insights generated in this workshop as we work with our global partners, and invite other scholars, clinicians, patient advocates, and public health entities to join us in these efforts.

Jessica Mozersky, Vardit Ravitsky, Rayna Rapp, Marsha Michie, Subhashini Chandrasekharan, and Megan Allyse. “Toward an Ethically Sensitive Implementation of Noninvasive Prenatal Screening in the Global Context.” Hastings Center Report 47, no. 2 (2017): 41-49. PubMed ID: 28301696.

 

 

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