Recognizing the Revolution: Thoughts on Genetic Distractions to Prenatal Care

 

It is entirely possible that the UK has become the unwitting leader of a profound European sexual revolution that can only be seen with the aid of a microscope. Pregnancy is one of the most familiar sexual performances, although changes to the most incremental aspects of care may cause unexpected changes in the social expectations for this very human process. Advances in pregnancy care may appear less dynamic than expressive challenges to norms of gendered performance or tests of sexual frontiers. Re-sizing early life care is likely to create equally vexing changes, but demand a more attentive interpretive gaze to appreciate.

Like in some chance encounters, the absence of definitive quirks and telling signs of familiarity is clear only afterwards. Awareness hits when an enthusiastic greeting is returned only with a blank look. Mistakes of identity expose one’s inability to tell a doppelgänger from an acquaintance. Seldom are such moments of awareness comfortable because the error exposes the demands of true recognition to late.

Take genetic prenatal tests, as an example. This area of integrated reproductive and genetic medicine provides knowledge on the genetic sequences of embryos. Since the 1980s, prenatal genetic diagnostics have been a routinely offered or recommended elective in pregnancy care. Now, expansions in genomic knowledge now allow families the added opportunity to actively prevent the transmission of heritable diseases to offspring.

In February 2015, the UK Parliament formally legalized two cutting-edge types of mitochondrial replacement therapy (MRT) that involve genetic manipulation in the hours surrounding fertilization (UK 2015 Regulations). MRT is a targeted procedure that uses accrued genetic knowledge to “fix” the transmittable abnormalities in mitochondrial DNA in the hours surrounding fertilization. The first child that received HFEA approved MRT treatment was born in September 2016. The legalization was a groundbreaking decision to permit permanent modifications to the human germline. Despite extensive public, expert and parliamentary debate, final approval was ultimately motivated by the hope that this single step would have a positive, multi-scaled health effect (HFEA 2013, 2014). Proponents anticipate that, with expansions in regulated access, embryo therapies can become a measurably valuable public health tool (Boyd and Garne 2010).

Before the development of therapeutic techniques, prenatal testing has been a heavily scrutinized step in pregnancy care. Two of the most widely contest types of prenatal genetic tests are also the most prevalent. They are targeted pre-implantation genetic diagnoses (PGD) and genome-wide pre-implantation genetic screenings (PGS). Most concerns on genetic prenatal tests align with those surrounding other processes in technologically assisted reproduction (ART). These longstanding reservations have circulated since the successful birth of Louise Brown, the first “test tube baby” in July 1978. The specific fear that has dominated discourses on ART is that improvements in technologies and patient access will fuel a “slippery slope” of socially inappropriate or immoral decisions on pregnancies without policy restrictions (Dondorp et al. 2016, Bredenoord and Braude, 2010).

That said, a growing number of congenital anomalies are detected through targeted diagnostics. Experts estimate that, as a category, genetic evaluations have been used to create thousands of healthy “PGD-babies” (de Wert 2014, 1612, WHO 2017). For example, the UK Human Fertilization and Embryology Authority (HFEA) approved the use of PGD to detect traits for over two hundred and fifty disorders. The authority lists an additional forty-five conditions awaiting approval. In contrast to morphological tests, PGD and PGS give knowledge on embryo status much earlier. Tests can be administered as early as three days after fertilization. Early input allows families to make decisions prior to national termination limits or to plan for exceptional, long-term care needs (Harper, et al. 2013, Harper and Sangupta 2012). Although genetic tests are a significant improvement over earlier methods, emerging therapies offer families a nearly irresistible opportunity to operationalize knowledge acquired through existing tests. Despite the absence of longitudinal research on risk, patient need and significant advances in knowledge on genetic anomalies compelled the recent legalization and continued provision of currently disputed test types (Bredenoord et al. 2008).

Little of this rich deliberation is conveyed in the vernacular descriptors of prenatal tests. Instead, common abbreviations truncate the complexity of these techniques and value that motivated the approval of imperceptible but population altering techniques. Terms such as “designer babies” and “sex-selective abortions” are well known. The nicknames for testing have analogs in other, equally contested, ART processes. For instance, European media routinely references fertility preservation as “social freezing” and the over-implantation of eggs that lead US mother Nadya Sulemon to birth octuplets, as something similar to the “octo-mom”. Each term indirectly references the outcomes while furthering the narrative of regional reservations on the use of scientific knowledge for pregnancy decisions.

As with other testing techniques, MRT has already acquired a vernacular reference to process that produce ‘three-parent babies’. One expert contributor to the MRT Parliamentary debates expressed regret over the misrepresentation of advances that the name suggests. He commented, “the dominance of the three-parent obsession all but choked off discussion of the moral significance of introducing inherited changes” (Jones 2015). Looking more broadly, he framed parliamentary deliberations on MRT as a “helpful dry run for the much wider debate that will have to precede any proposed changes to inherited nuclear DNA”. His desire adds to calls from medical experts to systematize ethics for testing applications beyond the UK (Bredenoord and Braude 2010, Harper et, al. 2013). Since the initial debate, a consensus has not yet been reached, leaving the distinction between ‘good’ and ‘bad’ types of pregnancy care unresolved.

To some extent, reservations on embryo intervention may echo the ambivalence in regional policies on new embryo interventions. The most relevant instruments, European Tissues and Cells Directive or the Parent Directive (Directive 2004/23/EC) and later amendments, govern the transfer and therapeutic use of biological materials in ART and donor insemination processes. The directive generally verifies that knowledge acquired through genomic analytics constitutes a “great opportunity” to “prevent the transmission of diseases”, although the series of policies preceded the development of provocative interventions. Only at one point in the language does the policy cite the capacity for genetic analytics to be used for the promotion of regional “self-reliance”(§13). This may point to the eventual position of regional policy makers on the use of MRT and other interventions. This conjecture aligns with the summary conclusion on a type of regional cohesion built upon the awareness that “we [Europeans] are all potential donors’ to family building methods that require donated genetic material. In sum, regional policies recognize the capacity for interconnectedness that is based on sequence as much as sexuality and society

Confidence in infertility care policymaking has also contributed to the pioneering UK legalization of gene editing. The 2015 approval made the UK the first country to permit, cover and oversee the provision of germline modifications. In the debates leading up to the vote, MPs proudly cited the UK history of principled and studied success in administering comprehensive infertility care as a qualification for making this ‘leap of faith’ approval of a care extension, before verifications of risk from longitudinal research (Hens et al. 2015). Arguably, the UK has a fluency in reproductive policy making that has become a positive point in the UK national identity. This reputation will be further confirmed if the legalization is mimicked for rulemaking in neighboring European countries and similarly developed countries (Adashi and Cohen 2016). Yet, the likelihood of direct policy sharing among European nations is uncertain, given the current level of heterogeneity in ART governance and variations in motives for policy permissions on PGD and PGS (Soini 2012).

Stepping back, the provocative narratives on the decision to legalize embryo interventions that distract from the original premise of pregnancy care may cause unintended harm. As suggested by UK anthropologist Marilyn Strathern, the inability to prioritize and evaluate genetic knowledge has the potential to render the process of pregnancy itself as an “unrecognizable” human process (2004). Worse yet, a failure to appreciate the weight of considering the potency of genetic knowledge can result in self-harm. Experts have already concerns on the growth in patient demand for ART an testing based on information obtained primarily through direct-to-consumer genetic testing (DTC)(Harper et al. 2013, Biovin 2007). Although genetic counseling is recommended to keep patients from acting upon information from unverified sources, clinical protocols for patient education are still being developed. Additionally, any exposure to risks of mistaken interpretation will be will be shared across a regional patient population due to high levels of cross border reproductive contracting (Pennings et al. 2008, Shenfield et al. 2010). With new and actionable knowledge, comes responsibility that is still ill-defined.

It is also possible that the current alignment in motives for testing may be momentary. In a 2006 study on PGD, sociologists Sarah Franklin and Celia Roberts picked the term “arrival” to describe testing as a brief concert in human reproduction, which they assert is “always incomplete.” In this case, prenatal tests are an intersection. The test connects various interests for future outcomes and benefits. There may be a point farther along in the process of operationalizing care that the difference in interests between public health needs and patient interests will become clear (Juth, N. and C. Munthe, 2011). This means that the opportunity for acting upon awareness may not last. Ideally, this period is best regarded as a pause of opportunity for considering strategies on the use of new but intimate knowledge. Depicting expectations on pre-birth knowledge as perpetually incomplete, may be the best strategy for ensuring that reproduction remains human.

The revolution is already underway, inspired by the lure of unprecedented pre-birth therapies that blend human care and legacy building. Despite its apparent novelty, it calls up many familiar concerns and strategies for addressing potentially disruptive knowledge on the human genome. A reflection by sociologist Dirk J. Van de Kaa speaks to the conundrum of a revolution in areas of presumed familiarity. He writes ‘hence the tinge of sadness. In stating that I am a European, I have to acknowledge the full complexity and the flaws of that civilization’ (1999, p.1). Perhaps efforts to govern this novel encounter would benefit from this suggestion and reflect on the deliberative processes and historic pluralities that can harness use of genetic capacities for human care.

 

Shelley Grant has a diverse scholarly and professional background. She is now a part-time Lecturer in Sociology at the University of Washington. Her scholarly work adds to positions as Program Assistant and Data Coordinator for the Northwest US regional affiliate of the Planned Parenthood Federation of America.

 

References:

Adashi, E. and I. Cohen.2017. “Mitochondrial Replacement Therapy: Unmade in the USA”.JAMA, Feb 14, 2017, 317 (6): 574.

Biovin, J., L. Bunding, J. A. Collins, and K. G. Nygren. 2007.“International Estimates of Infertility Prevalence and Treatment-seeking: Potential Need and Demand for Infertility Medical Care,” Human Reproduction 22(6): 1506–1512.

Boyd, P. and E. Garne. 2010. “Special Report: Prenatal Screening Policies in Europe” EUROCAT Central Registry

Bredenoord, A.L. and Braude, P., 2010. “Ethics of mitochondrial gene replacement: from bench to bedside”. BMJ: British Medical Journal (Online), 341.

Bredenoord A.L., et al. 2008. “Dealing with uncertainties: ethics of prenatal diagnosis and preimplantation genetic diagnosis to prevent mitochondrial disorders”. Hum Reprod Update 14: 83 – 94.

De Wert, G. et al. 2014. “ESHRE Task Force on Ethics and Law 22: Preimplantation Genetic Diagnosis”, Human Reproduction 29(8): 1610–1617.

Dondorp W.J., Page-Christiaens G.C.M.L., de Wert G.M.W.R. 2016. “Genomic futures of prenatal screening: ethical reflection”
Clinical Genetics 89: 531–538.

Franklin, S. and C. Roberts. 2006. Born and Made: An Ethnography of Preimplantation Genetic Diagnosis. Princeton: Princeton University Press.

Harper J. and Sengupta S. 2012 ”Preimplantation genetic diagnosis: state of the art 2011” Hum Genetics, 131:175–186.

Harper, J. et al. 2013. “Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy”, European Society of Human Genetics and European Society of Human Reproduction and Embryology. European Journal of Human Genetics, 21(Suppl 2): S1–S21.

Hens, K. et al. 2015. “A leap of faith? An interview study with professionals on the use of mitochondrial replacement to avoid transfer of mitochondrial diseases”. Hum Reprod 30 (5): 1256-1262.

HFEA, 2 June 2014, “Third scientific review of the safety and efficacy of methods to avoid mitochondrial disease through assisted conception: 2014 update Report provided to the Human Fertilisation and Embryology Authority (HFEA)”. Accessible at: http://www.hfea.gov.uk/docs/Third_Mitochondrial_replacement_scientific_review.pdf

HFEA, March 2013. “Annex VIII: Scientific review of the safety and efficacy of methods to avoid mitochondrial disease through assisted conception: update”, pg. 17.

Jones, D.A., 2015. The other woman: Evaluating the language of ‘three parent’ embryos. Clinical Ethics, 10(4), pp.97-106.

Juth, N. and C. Munthe. 2011. “The ethics of screening in health care and medicine: serving society or serving the patient?” (Vol. 51). Springer Science & Business Media.

Pennings G, de Wert G, Shenfield F, Cohen J, Tarlatzis B, Devroey P. 2008. “ESHRE task force on ethics and law 15: cross-border reproductive care” Hum Reprod 23: 2182–2184.

Shenfield F., Pennings G, De Mouzon J, Ferraretti AP, Goossens V. 2011. “ESHRE’s good practice guide for cross-border reproductive care for centers and practitioners” Hum Reprod 26: 1625–1627.

Strathern, Marilyn. 2004. “THE WHOLE PERSON AND ITS ARTIFACTS” Annu. Rev. Anthropol. 2004. 33:1–19.

  1. J. van de Kaa. 1999. European Populations: unity in diversity. European Population Conference. Dordrecht: Hague, Netherlands.

WHO. 2017. “Genes and Human Disease” online http://www.who.int/genomics/public/geneticdiseases/en/index2.html

 

 

 

Published on July 6, 2017.

 

Related Post

Gender and Policy: An Interview with Gill Allwood This is part of our special feature The Gender of Power.   Gill Allwood is a professor at Nottingham Trent University (UK), where her r...
Friend or Foe? The LGBT Community in the Eyes of R... This is part of our special feature The Gender of Power.   The threatening rhetoric right-wing populist (RWP) parties pose to immigrant...
Gender and the Economic Crisis in Europe: Politics... This is part of our special feature The Gender of Power.   “Against Patriarchal and Capitalist Attacks: Feminist Disobedience!” This...
“A Beautiful Night with Marine:” Marine Le P... This is part of our special feature The Gender of Power.   In the spring of 2013, during my first weeks of ethnographic and interview-b...