Plutonormativity

Abstract

Researchers and research subjects are reporting that the results of genetic testing, including testing conducted using sequencing technology, could inform reproductive decisions. Thus far unacknowledged are the out-of-pocket expenses often associated with genomics-enabled reproductive planning. These expenses will render this benefit of medical technology inaccessible to many people. No word currently exists for the mistaken assumption that the typical person has significant financial resources or the construction of policies and practices with that assumption baked in. In this essay, I propose the term “plutonormativity” to illuminate these often unacknowledged inequities. I then show how plutonormative thinking is operating in one particular context: access to reproductive planning within current discussions of the benefits of the genetic testing.

As the clinical benefits of almost three decades of research on the human genome fail to materialize in quite the way that so many had hoped, a new benefit of genetic testing is being identified: reproductive planning.^1–3 The idea is that prospective parents who have themselves been tested—including using genome sequencing technology—can use their results to avoid passing on particular genetic conditions to their future children. Although those who describe the benefit are not always explicit about what these reproductive plans might consist in, they may include: not having children, seeking prenatal testing during pregnancy and terminating an affected pregnancy, using assisted reproductive technologies to become pregnant, or using other family-building strategies such as adoption. What discussion of this purported benefit does not yet acknowledge, though, is that much of this genomics^*-enabled reproductive planning will cost a lot of money and, unless related policies change significantly, will be effectively unavailable to many people.

Omitting financial barriers from these discussions may result from a lack of knowledge amongst researchers and research subjects about the out-of-pocket expenses associated with many of the interventions a person might access to avoid conceiving a child with a particular genetic condition. Or perhaps they are unaware of the fact that those costs are seldom covered by national health plans or private insurance policies. This information is readily discoverable through a simple online search,^5,6 however, and is well-known to fertility patients and those working on laws and policies surrounding assisted reproduction.⁷ Individuals, families, and healthcare systems pay high out-of-pocket expenses for contraception, abortion, fertility treatment, and adoption.⁸ Another possible explanation is that researchers do not consider the financial implications of test results to be information that they should address with patients when discussing their future health-related decisions, a conclusion that it at odds with what is known about barriers to care.⁹

Alternatively, and I think more likely, the omission may result from an underlying—but mistaken—assumption: that patients and/or consumers of genomics have access to the resources necessary to make good on reproduction-relevant genetic testing results. In recognizing this assumption, a compelling equity problem is illuminated: only some people will have the financial resources to undertake genetic testing informed reproductive planning, even when reproductive planning is recommended by their clinicians and they desire to undertake it. People who cannot engage in this kind of reproductive planning due to a lack of wealth might well feel that they have failed to adhere to medical advice and have failed to act as “good parents”.¹⁰

No word currently exists for the mistaken assumption that the typical person has significant financial resources, even though the idea operates not just in discussion of assisted reproduction but in other medical contexts, including geriatrics,¹¹ as well as in other areas of life.^12,13 In this essay, I propose calling this mistaken assumption “plutonormativity.” I lay out the rationale for this new term and use it to illuminate unacknowledged inequities in one context: access to reproductive planning within current discussions of the benefits of the genetic testing.

Fifteen years after completion of the Human Genome Project—the international effort to map all the genes in the human genome—the meanings and implications of the many ways in which one person’s genome differs from another are still being puzzled out and with them the implications of testing for people’s health and lives. It is clear that certain gene variants lead to certain diseases. For example, mutations in the HTT gene cause Huntington’s disease.¹⁴ But while it was thought that many diseases would follow the one-gene-one-disease model, we now know that highly penetrant gene variants are quite rare, with common diseases like diabetes, cancer, heart disease, and dementia likely resulting from the interaction of many genetic and environmental causes.^15,16 It is also becoming clear that while some genetic differences can significantly increase a person’s risk for a condition—approximately 70% of women with mutations in BRCA 1 or BRCA 2 genes will develop breast cancer over their lifetimes, while only 12% of women in the general population will do so^17–19—the health risks associated with most gene variants are much smaller. In addition, there are a large number of genetic differences between people that researchers simply do not yet understand.

Even where test results show that specific gene variants cause a person’s symptoms or definitely predispose them to develop a particular health condition, interventions to disrupt the impact of that gene variant may not exist and the person’s own medical care may be unchanged. Recent research involving very ill newborn babies suspected of having a genetic condition—a patient population in which one might expect the use of genome sequencing technology to be especially helpful—illustrates some of the limits of sequencing. Thus far, studies have shown that sequencing this group of newborns can lead to a “molecular diagnosis” for the infant’s condition in about 40–60% of cases²⁰ but only rarely to significant changes in medical treatment.²¹

It is understandably challenging for patients—and in the case of direct to consumer genomics, consumers—to know what to do with this range of complex and in many cases uncertain test results, and it is understandable that clinicians and researchers returning results are eager to identify benefits of these results beyond “simply knowing.” Indeed, in response to the complexity of genetics and the gap between results and medical interventions to treat them, ideas about the benefits of genetic testing have evolved to include non-medical uses of the results (sometimes called “personal utility”).^22–24 As my colleagues and I noted in our 2018 study of the use of sequencing technology in newborns, some researchers argue that results from genome sequencing that are not medically actionable can still be useful to patients and family members for reproductive planning purposes.²⁵

The basic idea behind this benefit is that all kinds of test results can help people decide whether, when, and how to have a family. It makes a lot of sense—if people know that they carry gene variants associated with increased risk for Alzheimer’s disease, schizophrenia, hearing loss, or some other condition, then they can take steps to make sure that they do not pass those deleterious genes onto their children. Although it is seldom spelled out how people might go about doing this, at least a few options are apparent: prenatal testing following by pregnancy termination if the fetus is affected by the particular genetic condition; in vitro fertilization (IVF) followed by embryo testing (preimplantation genetic diagnosis or PGD) to transfer only unaffected embryos; use a sperm, egg, or embryo donors; adoption; deciding not to have children. All these options for acting on genetic test results require non-trivial action by the person whose DNA was tested. This is action that the person may well be happy to take—my intention is not to suggest otherwise—but for that action to be realistic, its burdens and costs at a minimum ought to be identified. (Below, I go further, and suggest that consideration ought to be given also to whether those costs can be alleviated by changes in policy.)

In the US and Canada, most pregnant people have access to prenatal testing, although some tests are not covered by public or private insurance.²⁶ In the US access to abortion is increasingly restricted or unavailable. Those unable or unwilling to access pregnancy termination could instead take steps to ensure that they do not get pregnant “the old fashioned way” (at a population level, this alone would be a big change: today, nearly half of pregnancies in the US classified as unintended²⁷) but instead use assisted reproduction or other family building strategies. Simply avoiding pregnancy is likely to involve out of pocket costs, sometimes thousands of dollars per year for reliable contraception.²⁸ In addition, IVF with PGD costs upwards of US$15,000 per cycle (the average cost several years ago was $12,000 for the IVF, $2500-$6000 for the PGD²⁷), is not covered by public insurance programs in the US,²⁹ is either not covered by or is subject to very limited coverage under health plans many other countries including Canada,³⁰ and is frequently omitted from private health insurance plans.²⁹ Private adoption costs upwards of US$30,000.⁵ Like avoiding unintended pregnancy, “not having children” can come with contraceptive or sterilization costs for which access and coverage varies.³¹ These costs and the costs of overcoming access barriers are not mentioned in articles identifying reproductive planning as a benefit of genetic testing.

As I puzzled over the reproductive planning benefit and wondered why cost is not mentioned, I began searching for a word to capture this apparent blind spot. I was looking for a word like heteronormativity, the mistaken belief or assumption that everyone is heterosexual, and the consequent construction of laws, policies, practices, and norms based on this supposition. I looked for a similar word to describe the apparent assumption that everyone has wealth (or if not wealth, then at least good health insurance or enough money to cover the interventions necessary to realize the reproductive planning benefit without undue financial burden or sacrifice) and the development of policies and practices with that assumption baked in. After failing to find an existing word or phrase to capture this silence, I coined the term “plutonormativity” using the Greek word “ploutus,” meaning wealth. I first used the phrase in a Facebook discussion of this idea, and then mentioned it in a lunchtime discussion at The Hastings Center, where I work. Two of my colleagues subsequently used it in their work on aging societies to describe policies that fail to take into account the often substantial cost of aging-related technology, medical care, and residential care.¹¹ My goal in coining this word is to bring attention to plutonormative policies, practices, and social norms that—intentionally or unintentionally—exclude or marginalize the hundreds of millions of people worldwide who do not have a lot of money. I hope to encourage realistic discussions of the benefits of advances in science and medicine and, where possible, policy and practice changes that will open up those benefits to more people.

The use of genetic test results to inform reproductive plans may well represent a substantial benefit of for patients and families of advances in genetics and genomics. In discussions of this potential benefit, barriers to accessing it—including cost—must not be overlooked. Under existing policies in the US and many other countries, many of these costs will not be covered by health plans or private insurance and therefore will have to be borne by patients if the benefit is to be realized. As a result, genomics-enabled reproductive planning may only be available to the wealthy, resulting in an inequitable distribution of the benefits of decades of public and private investment in genetics and genomics. (Some may argue that such an inequity is tolerable—I leave that question for another day). Plutonormativity obscures this important equity concern. Acknowledging that existing discussions of genetics and genomics, aging and end of life care, and other areas of medicine, health, law, and social policy are plutonormative can highlight structural barriers to care and flourishing. Some of these barriers can be addressed by changes in law, policy, and practice. In the context addressed here—genomics-enabled reproductive planning—acknowledging plutonormativity invites consideration of changes to laws and policies concerning, at a minimum, contraception, abortion, prenatal testing, assisted reproduction, and adoption.

Bio

Josephine Johnston is Director of Research and a research Scholar at The Hastings Center, a bioethics research institute in Garrison, New York. Her work focuses on the ethical, legal and social implications of emerging technology. Ms. Johnston holds degrees in law and bioethics from the University of Otago in Dunedin, New Zealand. Correspondence to johnstonj@thehastingscenter.org.