Primer jornada – 23 de noviembre

Mapping genetic screening between public health and personalized medicine: A critique of the proliferation of genetic testing for “healthy” people
Mauro Turrini
Instituto de Políticas y Bienes Públicos, IPP
Consejo Superior de Investigaciones Científicas, CSIC  

As costs of targeted or whole-genome testing techniques are drastically dropping, genetic testing among a population of «healthy» people to assess the risk to get a disease of which they have not yet manifested their symptoms. Routinized and population-based screening are developing well beyond the public health services, in private health care institutions and even outside of the clinic with a logic of tailored medicine. Public health and personalized medicine are used here as the coordinates of a theoretical framework capable of analyzing the proliferation of population-based genetic screening through a plural, historical and critical perspective. In spite of the privatization and individualization of screening, public health and personalized medicine are not here used as the beginning and the end point to describe monolithically the evolution of population-based screening, but rather to grasp the hybridization between these two models. This operation intends to interpret an innovation often presented solely under the sign of discontinuity and change in the context of clinical, institutional, ideological and socio-cultural processes related to mass prevention. At the same time, it intends to foment connections within social studies on screening, which are often presented as fragmented, through heterogeneous coordinates of analysis capable of capturing the multiplicity, but also the commonalities, of the issues and stakes involved in the new wave of genetic screening.

After presenting the connections between screening, public health, genetics, and personalized medicine, we will move on to propose some coordinates of analysis that can map developments in genetic screening. We will focus on four axes of analysis: the evolution of genetic screening practices in the ecology of a growing genomic culture for health; the key institutional actors in the development of routine screening programs in public, private, out-of-clinic medical settings; the ideology and imaginaries associated with this practice; and the implications in terms of the construction of patients’ subjectivities.

Blockbuster diagnostics: Analysing the new wave of genomic cancer screening through the lens of comparative political economy
Stuart Hogarth
Departamento de Sociología
Universidad de Cambridge

A decade after the Human Genome Project, major public and private investments continue to fuel expectations of a genomic revolution in biomedicine. The freight of expectations surrounding the new “age of diagnostics” is accompanied by much uncertainty about how public policy should steer diagnostic innovation, with much debate about inter alia the harms of creating diagnostic monopolies through gene patenting, and the risks of under- or over-regulation. Yet there is little academic research on the diagnostic innovation process. In this talk, we will present work from an ERC project which is investigating the molecular diagnostics sector mapping industry dynamics, technological trajectories and regulatory developments in Europe and the USA from 1996 to the present day. Drawing on our database of firms in the global molecular diagnostics industry, we use a comparative analytic framework, drawing on the Varieties of Capitalism (Hall and Sosckice) and related approaches to capitalist variegation, to examine changing business models in the diagnostics sector, in particular the shift from a high-volume, low-margin business model to premium pricing. We relate this to our model of broader sociotechnical transition in the diagnostics industry and analyse the comparative performance of firms in Europe and the USA pursuing traditional business models vs. the premium pricing strategy.

Diagnostic innovation has generally been characterised as a process emerging at the interface between academic science and clinical practice, but recent evidence suggests that industry is taking a more central role in the process. In previous research on the molecular diagnostics sector, we have suggested that this corporatisation of R&D can be linked to two other dynamics. Firstly, diagnostics firms are adopting the business models and marketing practices of their counterparts in the pharmaceutical sector (pharmaceuticalisation). Secondly, there has been a proliferation of new regulatory mechanisms governing diagnostic innovation (regulatory expansion). These trends are coterminous with, and at least in part driven by, the growth of the molecular diagnostics sector in the post-genomic era (molecularisation). Cumulatively these four interlinked dynamics may constitute a major socio-technical transition in the diagnostics industry. This transition may be understood as a sectoral-specific instance of a broader transformation in the global medical-industrial complex which a growing body of recent scholarship has characterised as a new era of biomedicalisation.

Surveillance Life: Predisposed in Welfare State Denmark
Ayo Wahlberg
Departamento de Antropología
Universidad de Copenhague

As costs continue to fall, increasing numbers of people are having their genomes whole genome sequenced, not least through direct-to-consumer services aimed at people curious about their heritage and/or health risks and the mainstreaming of genomic sequencing into healthcare services (notably in oncology and cardiology). And, while many of the promises of a «genomic revolution» in medicine have failed to materialize, one of the most concrete effects of such sequencing has been the identification and segmentation of increasing numbers of «predisposed» individuals within (national) populations. Based on research focused on people living with Lynch Syndrome (inherited elevated risk of colorectal cancer) , in this talk I will explore what it means to be predisposed in 21st century welfare state Denmark. By focusing on the everyday practices of families living with Lynch syndrome I will ask what forms of ‘genetic sensibility’ are emerging out of shared knowledge of predisposition as well as what forms of pastoral care are taking shape within Denmark’s preventive healthcare complex today.

Challenges for the medical practice of genomic analysis in oncopediatry: Or how the legislator sees sequencing as a means of prevention on a wider family scale
Sandrine de Montgolfier
Universidad de Auix Marseille

This talk will offer a field analysis carried out in oncopaediatrics. The aim of the GeneInfoKid project (funded by INCa 2018-2022) was to consider the ethical, legal and psychological issues involved in genome sequencing proposals in the care of children in paediatric oncology. Our comments will focus on different materials from the various qualitative surveys (interviews and focus groups) carried out with professionals, patients and parents.

The main findings highlight the juxtaposition of ethical dilemmas encountered by oncologists throughout the care pathway of children integrating genomics: what information to provide at a complex time such as that of an acute childhood pathology. Given the complexity of the results, the question arises as to what information should be given to patients, and above all to whom and how it should be given. In this presentation, we will examine the question of the role played by the professional, and whether or not it is understood by the patient and his or her parents, in providing information to relatives, which is now required under French law. This need greatly broadens the objective of any sequencing procedure by suggesting a benefit for people other than the person being tested. This broadening allows the professional to question the question of incidental data discovered in the course of genomic analysis. This prompts us to consider the temporality of the proposals, but above all the sometimes complex choices of knowing or not knowing certain information that is nevertheless put to the players.

Our Uncertain Eugenics: Social theory in the age of non-invasive prenatal genetics
Daniel Navon
Departamento de Sociología
Universidad de California San Diego

In barely more than a decade, non-invasive prenatal genetic screening (NIPT) has gone from biotech fantasy to a multi-billion-dollar industry available to millions of pregnant people around the world each year. This talk explores a series of overlooked social and ethical issues raised by the rapid expansion of NIPT screening. Most of the discussion around NIPT screening has understandably centered on Down syndrome and high rates of false positives. However, many NIPT kits now screen for a range of less well-understood conditions—like the Trisomy X, XYY, or 22q11.2 deletion syndromes—that are quite common, widely underdiagnosed, and include an untold number of mildly affected people. The explosion of NIPT screening therefore means that thousands upon thousands of expectant parents will have to grapple with true positive results that are at once undoubtedly real and deeply uncertain. I draw on the history of prenatal genetic testing, and modern human genetics more broadly, to develop theoretical parameters for understanding several intersecting trajectories: 1) How the burgeoning NIPT field/market may unfold in different political economies; 2) How the deeply personal reproductive choices afforded by NIPT screening may unleash a new “secondary eugenics” with a cascade of complex, socially-patterned effects at the population level; 3) The very specific eugenic and social movement implications for communities and advocacy groups dedicated to genetic disorders.

Social, ethical and legal issues raised by the development of genomic sequencing techniques in antenatal care
Adeline Perrot
Centro Ethox y Centro Wellcome de Ética y Humanidades
Universidad de Oxford

Genome-wide sequencing (GWS) approaches (such as GW Non-invasive prenatal testing and (whole) exome/genome sequencing) are increasingly available for prenatal screening/diagnosis of fetal abnormalities. The turnaround time as well as the costs of these tests continue to decrease. If GWS methods present some benefits, they raise ethical, social and legal issues about what type of findings pregnant women (or couples) should be able to access for their reproductive choices. Which genetic variants should be tested for and serve as a basis on which pregnant women can make a decision whether to continue terminate a pregnancy? Through my presentation, I will examine how women’s (or couples’) reproductive choices are shaped, enabled and constrained by socio-cultural and legal frameworks, clinical and regional contexts and the potential impacts of sequencing techniques on women’s well-being and autonomy. Women’s reproductive autonomy will be considered from the perspective of a dynamic and relational process, i.e. through the discussion of ethical questions around the appropriate use of prenatal genomic sequencing from the views of different stakeholders (health professionals, women/couples, associative stakeholders, policy-makers) within various national contexts (in particular, England, France and Germany).

Geneticization of fetal anomaly screening. Jurisdictional and semantic issues in France
Carine Vassy
Institut de Recherche Interdisciplinaire sur les Enjeux Sociaux
Université Sorbonne Paris Nord – Paris 13

In most Western countries, screening for fetal anomalies became geneticized in the 2010s. New tests based on genetic knowledge have been proposed, to identify anomalies from the analysis of placental DNA fragments circulating in the pregnant woman’s blood. These tests, also known as non-invasive prenatal screening, have revolutionized the testing ecology, which until now was based on fetal ultrasound and biochemical tests on maternal blood.

As is often the case with new medical techniques, segments of professional groups have seized upon them to modify their activity and recompose their boundaries (Bucher & Strauss, 1961). This paper adopts a sociological approach to professions and public action, to show the changes in professional jurisdictions in the field of prenatal screening in France (Abbott, 1988).

Experts belonging to various professional groups promote different conceptions of what constitutes appropriate prenatal screening, in terms of the anomalies sought and target groups. They use a variety of scientific evidence to justify their point of view. These biomedical experts, and their professional associations, influence public action with varying degrees of success. Since 2017, health authorities have opted for a certain type of public funding of innovations, and have set up a regulatory framework, comprising economic and technical choices, but also ambiguities.

Divergences between experts are also reflected in disagreements over the meaning of concepts such as «genome-wide», «incidental data» and even «screening». These semantic differences are fuelled by scientific uncertainties about the prevalence of the increasingly rare anomalies that the new tests can detect, and about the clinical relevance of the results, particularly in cases of expressivity variability.

These elements lead us to conclude that the changes introduced by geneticization are limited, given the recurrent nature of certain issues in the history of fetal anomaly screening in France.

Mapping the the moral geography of prenatal testing
Ingrid Metzler
División de Ética Biomédica y Ética de la Salud Pública
Universidad de Karl Landsteiner de Ciencias de la Salud, Krems 

I would like to take the opportunity of this symposium to map the moral geography of prenatal testing. I will build on three cases: the emergence of cfDNA testing in Austria, the public controversies on the same technology in Germany, and the debates on the desirability of the expansion of the scope of reporting of cfDNA testing results. Specifically, I will use these cases to  discuss ways in which public health authorities, commercial companies, and professional societies enter into conflict and conversation when envisioning and valuing the biomoralities that sustain the uses of prenatal testing technologies. Moreover, I will also seek to reflect upon the moral, epistemological, and political significance of the major tenets of the emerging moral geographies of prenatal testing. 

Segunda jornada – 24 de noviembre

“Would you like to know the date of your death?”. Visions about screening in a qualitative study about DTC genetic testing.
Pablo Santoro & Rubén Blanco
Departamento de Sociología V
Universidad Complutense de Madrid

As advancements in genetic technology continue to develop, Direct-to-Consumer Genetic Testing (DTCGT) has gained significant popularity in recent years, offering individuals the opportunity to access some of their genetic information without the need for the supervision of healthcare professionals. Though initially set in a simplistic understanding of genetic predisposition (Hogarth & Sauko, 2017), scientific, regulatory, and social changes around genomics have transformed the DTCGT market, complicating the ways in which these tests are perceived and employed by individuals and modifying how commercial genetic testing participates in what Jenny Reardon calls “the post-genomic condition” (Reardon, 2017)

In order to explore how DTCGT is currently represented, perceived and used by the public, we conducted a qualitative study in Madrid (Spain). Through purposive sampling, a diverse group of participants representing various demographic backgrounds and levels of familiarity with DTCGT were selected. 6 focus groups were conducted between April and June 2023, employing a semi-structured interview guide to stimulate conversation and encourage the sharing of opinions, experiences, and concerns. Thematic analysis was applied to identify recurring patterns and emergent themes in the data.

In the course of the focus groups, participants discussed topics such as their understanding of “genomic predisposition”, their visions of the genetic “continuity” between members of the same family or the positive and negative aspects of taking a test without medical supervision. Images and projections about a potential near future where genetic screening was widespread served participants to elaborate some of their ideas. Our communication will present the arguments raised by the participants on the topic of genetic screening, which were characterized by a great ambivalence, in which the potential benefits and drawbacks of screening were intertwined.

“An act of love” – An anthropological analysis of the construction of pre-conceptive parenthood
Astrid  Boe Hüttel
Instituto de Políticas y Bienes Públicos, IPP
Consejo Superior de Investigaciones Científicas, CSIC

The possible technological interventions in the assisted reproductive process and the benefits they offer range from higher chances of becoming pregnant, avoiding miscarriages as well as securing the health of future children. Of this array of assisted reproductive technologies, preimplantation genetic testing (PGT) makes it possible to analyse the genetic layout of embryos and is used to avoid passing on a serious, hereditary disease, avoiding chromosomal aberrations or in order to elevate the succes rate of IVF cycles. This allows would-be parents to evaluate the quality of their embryos and discard the ones that shows signs of deviating from what is considered biomedical normal. 

Due to the many promising advantages of PGT, it is becoming an increasingly popular and routinized technology within assisted reproductive medicine. It is, however, a rather controversial technology at the center of bioethical discussions on how to justify the selection of certain lives over others, making it as much a social practice as a technological one.

Based on empirical material collected from the webpages and social media platforms of Spanish fertility clinics, the article explores the online discourses constructing PGT as practice, that not only implies the creation of healthy children, but also the involvement of a specific type of parents that are expected to invest both time, ressources and money in order to minimise any potential genetic risks of their future children. The article argues that people undergoing assisted reproduction are framed as pre-conceptive parents by invoking the intense demands and expectations associated with parenthood even before a pregnancy is conceived. The analysis shows that this parental responsibility is not equally distributed between the parents; instead, the mother is framed as the main contributor of genetic risk as well as the one carrying the biggest responsibility in assuring the biomedical normality of the future child.

My genes, your genes: adds-on and genetics in the Spanish Reproductive Bioeconomy
Vincenzo Pavone & Paula Bosch
Instituto de Políticas y Bienes Públicos, IPP
Consejo Superior de Investigaciones Científicas, CSIC

Over the past 15 years, reproductive bioeconomies, especially those associated with assisted reproduction techniques (ARTs), have changed dramatically. These changes are not only related to the remarkable increase in cycles, patients and markets – mostly due to the increasing age at first pregnancy of both female and male partners and to the steady decrease in sperm quality all over the world. They are also due to the increasing global interconnected nature of reproductive economies, and to the impressive technological advances progressively incorporated in the socio-medical practices of assisted reproduction. More specifically, a growing literature in the field of medical sociology and STS is addressing the drivers and the implications of what is increasingly known as the “adds-on phenomenon”.  Adds-on are additional techniques or practices offered to women or couples undergoing IVF cycles, either with their own gametes or with third party gametes. In the domain of assisted reproduction adds-on, the spectacular advances of genetics have so far played an outstanding role. Drawing from semi-structured interviews with patients undergoing either IVF cycles with their own gametes or egg donation cycles, we focused on two specific genetic testing practices: genetic matching or expanded carrier screening, on the one hand, and pre-implantation genetic testing (PGT-A and PGD-M), on the other hand. The paper casts light not only on how both techniques have become routinized, with a significant economic pressure on IVF patients, but also on how these two techniques have eventually come to get combined on standard egg donation cycles. This process of merging and routinization of different genetic techniques come with controversial policy implications that have so far escaped scrutiny and debate in Spain or elsewhere.

A perfect match. Routinizing Genetic Matching (GM) in Spanish Assisted Reproduction
Vincenzo Pavone & Mauro Turrini
Instituto de Políticas y Bienes Públicos, IPP
Consejo Superior de Investigaciones Científicas, CSIC

Genetic matching is a test used for patients undergoing assisted reproduction techniques (ART) using gamete donors. From a medical point of view, it can be described as extended carrier screening carried out on both one of the future parents and the gamete donors, to prevent the offspring from being affected by a genetic disease of which they are healthy carriers. Drawing on the concept of «governmentality», we understand the screening as a consensual form of governing life, which has been rapidly routinized in Spain.

Empirical material, including regulatory documents (court rulings, guidelines, health agency documents) as well as interviews with physicians, biologists, patients and gamete donors, will be mobilized to highlight three crucial aspects. Firstly, a techno-scientific imaginary and an infrastructure around ART that expresses an attitude of innovation. Genetics plays an important role in this process, and has led to a highly developed system of molecular laboratories. Secondly, GM suits the Spanish egg supply system, based on anonymity and cheap gametes, as yet another reason for leaving the choice of «donor» in the hands of the medical establishment, rather than the patient. In addition, it lures competitive marketing strategies regarding the number of variants and diseases analyzed. Thirdly, from a moral point of view, it doesn’t seem problematic at all. For patients, unlike other genetic tests, GM is particularly invisible, since it is seen as yet another option for increasing the chances of having a healthy baby. For doctors, the technique combines a lack of association with eugenics with the promise of a healthy baby. In conclusion, this case study serves as a starting point for reflection on the evolution of genetic testing in healthcare, reproduction and society.

Legal aspects of genetic tests in assisted reproduction treatments with donated gametes
Flor Arias Aparicio
Facultad de Derecho
Universidad de Extremadura

The proliferation of genetic tests in the field of assisted human reproduction has revealed the insufficiency of the current regulations on this matter in relation to issues such as the tests that must be carried out on gamete donors (since the regulations do not establish the specific genetic tests that should be included in a genetic screening program for gamete donors); or, the information that must be provided to patients and gamete donors regarding the genetic studies performed on them. These two aspects give rise to controversies regarding information that do not have a sufficient legal response and that affect the reproductive decisions of the users of these treatments. This work aims to analyze the legal framework that regulates genetic testing in the field of assisted human reproduction (in particular, carrier tests and genetic matching) with a double purpose: to highlight, on the one hand, the deficiencies of the Spanish regulations to solve the problems that arise in this field; and, on the other hand, to make proposals that provide satisfactory answers to these problems.

‘Population mapping with a eugenic purpose: the genetic screening of thalassemia carriers in post-war Italy’
Luc Berlivet
Centro Nacional Francés de Investigación Científica

Since its instalment, in the aftermath of World War 2, medical/human genetics has been heralded as a vanguard of biomedicine: a vibrant research field, long dominated by US and British pioneers, who quickly made room for themselves in the world of teaching hospitals, thanks in no small part to its links with elite clinicians – notably pediatricians. In this historical narrative, the relationship between medical genetics and public health started to develop in the late 1960s, with the introduction of the first mandated newborn screening program for PKU in a few East-Coast states of the US, but only gained momentum in the 1970s, with the Nixon initiative. It might therefore come as a surprise that one of the first national network of state-funded genetic counselling centers was established as early as 1954, in Italy, in the wake of a mass screening effort of thalassemia carriers that had started in the late 1940s. Yet, exploring the ways by which a genetic disorder came to be framed as a “social disease”, a mere few years after it was first identified, and revisiting the early debates on the pros and cons of population testing help understand the relationship between the emerging field of human genetics and Eugenics.

Preconception expanded carrier screening in the UK: emerging governance and points of tension
Cathy Herbrand
Centro de Investigación sobre Reproducción
Universidad De Monfort

With the expansion of genome sequencing, a new form of reproductive genetic risk profiling – ‘expanded carrier screening’ (ECS) – is being rolled out and targeted at ‘healthy’ prospective parents to inform them of their joint risk of transmitting recessive genetic disorders to their future offspring. 

Unlike many other recent genomic innovations in healthcare in the UK (where testing has been made available free at the point of access through the NHS), ECS is currently only being offered by private fertility clinics or ‘direct to consumer’ by a range of commercial companies. Interestingly, there is currently no specific regulation or professional guidance surrounding the use of ECS in the UK, leaving private clinics and laboratories free to determine its cost, delivery and marketing. Despite the debates that have taken place in the UK around newborn screening programmes and genomic medicine more broadly, little public and policy attention has been given to the purposes of this test, its governance and commercialisation, or its implications for individuals and society at large. 

This paper draws on a broader ESRC-funded interdisciplinary project exploring the social, ethical and economic issues surrounding the emergence of ECS in the UK. It will present preliminary findings of interviews conducted with key stakeholders (policy, commercial, patient group, professional) who are involved or have a particular interest in the regulation of reproductive genomic testing in the UK. Combined with a scoping review of policy papers on ECS, it will situate the emergence of ECS as a novel reproductive screening technology within the UK policy and practice landscape and identify the specific issues raised by ECS in this context. It will also explore participants’ positioning regarding the potential future use of ECS in the NHS or as a population screening tool, with particular attention on the tensions these options may raise. Overall, the paper will provide a critical perspective on the governance of this emerging technology in the UK.

El simposio tendrá lugar en la Sala Zambrano del Centro de Ciencias Humanas y Sociales (CCHS) del Consejo Superior de Investigaciones Científicas (CSIC), en la siguiente dirección:

Calle de Albasanz, 26
28037 Madrid

¡Te esperamos!