CARTOGRAFÍAS DEL CRIBADO GENÉTICO: ENTRE LA SALUD PÚBLICA Y LA MEDICINA PERSONALIZADA
Madrid – 23 y 24 de noviembre de 2023
Este simposio toma como punto de partida la ambivalencia inherente a la idea de “cribado genético”. Por un lado, los dos conceptos incluidos en este sintagma comparten una misma afinidad con respecto a la evaluación de riesgos. Por otro lado, existe entre ambos una oposición subyacente, dado que el cribado ha sido tradicionalmente un instrumento de salud pública con una profunda vocación social, mientras que la genética representa desde hace décadas el principal impulsor de la medicina personalizada. Esta tensión se vuelve particularmente evidente tanto en el ámbito de la gestión como en lo que se refiere a los modelos de innovación.
Descripción
Los programas de cribado son programas tradicionalmente públicos orientados a grandes grupos de población, con base en principios como la equidad, la justicia o la mejora de la salud pública, así como en la discriminación positiva de aquellos que participan en el cribado y en su justificación como un instrumento de justicia distributiva. Desde la década de 1960, el cribado se ha visto cuestionado por el impacto que tiene en la práctica clínica —en términos de sobrediagnóstico e incertidumbre a la hora de tratar a una población en riesgo—, en el sector público —el exorbitante coste de este tipo de intervenciones— y en la sociedad en general —en especial, el impacto psicológico y la aceptación social de nuevas formas de prevención y de responsabilidad en el ámbito de la salud—. En este sentido, el uso de pruebas genéticas en el contexto de estos programas de cribado ha generado una fuerte controversia, como consecuencia de la profunda incertidumbre que estas pruebas predictivas pueden causar tanto en los pacientes como en los profesionales —una condición conocida como “limbo genético”—. Por ello, el uso del cribado genético como un instrumento para localizar a una determinada población en riesgo estuvo prácticamente ausente hasta hace unos pocos años, al margen de unas pocas excepciones referentes básicamente a programas de cribado neonatal.
Esta situación, sin embargo, ha cambiado recientemente. Mientras los costes de secuenciar el ADN continúan bajando, más y más personas están secuenciando su genoma, ya sea con un objetivo preciso —usando un panel de genes— o de una manera más general —secuenciando el exoma o el genoma en su conjunto—. Esta proliferación tiene lugar por medio de múltiples canales, entre los cuales se incluyen servicios directos-al-consumidor orientados a personas que quieren conocer su ascendencia y/o sus riesgos genéticos asociados, pruebas genéticas que se han vuelto rutinarias en diferentes contextos clínicos —prueba de portadores, diagnóstico genético preimplantacional en los embriones, pruebas genéticas neonatales en los fetos o diagnóstico de enfermedades raras en niños y otras pruebas o asesoramiento genético en el caso de condiciones de aparición tardía— o la incorporación de la secuenciación genética en el sistema de salud —particularmente en oncología y cardiología— en nombre de la medicina personalizada, así como el reclutamiento de voluntarios que desean ofrecer su ADN a una determinada base de datos, como aquellas vinculadas al 100,000 Genomes Project en el Reino Unido o al Danish National Genome Center en Dinamarca. Si bien todos estos canales de secuenciación son en gran medida distintos e independientes, en conjunto pueden ser consideradas como un cribado genético masivo de la población en aquellos países donde estos servicios están disponibles.
El objetivo de este simposio es explorar la gobernanza y las implicaciones clínicas de esta propagación, concebida como un fenómeno que está reconfigurando la propia idea de cribado y, de manera más general, las de prevención y atención médicas. Actualmente, numerosos programas de cribado, especialmente en los campos de la medicina prenatal y la reproducción asistida, están asociados con la iniciativa de clínicas privadas o empresas que se presentan desde la perspectiva de la personalización. Sin embargo, la regulación de estos programas involucra a múltiples actores, desde asociaciones médicas a comités de bioética, pasando por tribunales de justicia y ciertos actores políticos. Además, esta emergencia del cribado como una nueva forma de medicina personalizada no debería ser interpretada simplemente a través de la dicotomía entre público y privado, sino más bien en relación con nuevas prácticas y formas de responsabilidad dentro del ámbito médico. Al apuntar a la gobernanza del cribado genético, pretendemos explorar cómo se negocian las prácticas clínicas, el conocimiento médico-científico, los intereses económicos, los marcos normativos, las políticas públicas, los valores culturales y las representaciones sociales. En particular, nos centraremos en:
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Los actores, objetivos y población destinataria de los nuevos programas de cribado: ¿Quién promueve estos programas? ¿De qué depende su éxito o su fracaso? ¿Qué principios son invocados a la hora de aprobar o denegar los fondos necesarios y/o la legitimidad para llevarlos a cabo? ¿Quién se encarga de aprobarlos o denegarlos? ¿Quién son los grupos objetivo?
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La reconfiguración de la práctica médica y del ecosistema de las pruebas: ¿Qué impacto puede tener una nueva prueba de cribado sobre otras pruebas relacionadas? ¿Cómo cambia la distinción entre pruebas de cribado y pruebas de diagnóstico? ¿Cómo cambia la relación entre investigación y práctica clínica?
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La evaluación del cribado: ¿Qué tipo de evidencias científicas se utilizan a la hora de evaluar un proceso de cribado?
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Nuevas taxonomías: Las nuevas técnicas de secuenciación genómica plantean cuestiones acerca de lo que debería ser dicho en un contexto clínico. El primer problema reside en la incertidumbre de los resultados, que son particularmente relevantes en el caso de las conocidas como variantes de significado incierto (VUS). El segundo problema concierte al tipo de enfermedad al que se asocia cada variante genética: autosómica recesiva/dominante, aparición temprana/tardía, penetrancia completa/incompleta, expresividad/variabilidad. ¿Qué motivaciones (prácticas médicas, normas legales, políticas sanitarias, intereses económicos y/o valores culturales) llevan a escoger una u otra opción? ¿Cómo estas taxonomías circulan global y localmente?
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Almacenamiento y acceso a la información: ¿Se almacenan las muestras de ADN? ¿Dónde se almacenan? ¿Quién puede acceder a ellas?
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Marco jurídico, valores culturales y su impacto en el cribado: ¿Qué factores influyen con más fuerza en la tecnología empleada (marcos jurídicos, valores culturales y representaciones de la genética y la biotecnología, contingencias organizacionales, intereses económicos en ciertos campos, etc.)?
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Un segundo aspecto que también queremos explorar es el impacto que el cribado tiene en la trayectoria de los pacientes. Esta nueva ola de cribado genético ha traído consigo una segmentación de las personas en diferentes categorías genéticas, lo cual puede influir en: los esfuerzos de las personas por construir una vida en familia; los esfuerzos familiares por encontrar una explicación a los síntomas que presenta uno de sus miembros; el diagnóstico de una persona enferma y el subsiguiente régimen de tratamiento “personalizado”; o los esfuerzos de una persona o una familia para no contraer una enfermedad —o detectarla lo antes posible— y vivir saludablemente. Sin embargo, dada la diversidad de motivos que pueden llevar a una persona a secuenciar su genoma, no siempre está claro a quién beneficia realmente —a un Estado-nación, a los médicos, a una familia o a un individuo—. Esto puede generar tensiones, como en el caso del creciente número de personas que están “en riesgo” de contraer un cáncer de aparición tardía, los cuales, al ser identificados con el fin de salvar vidas y ahorrar costes, se vuelven “pre-pacientes” o “pacientes-en-espera”, transformando así la vida de estas personas “en riesgo”. En particular, nos centraremos en:
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Desigualdades socioeconómicas: ¿Qué importancia tiene el estatus socioeconómico de los pacientes en un contexto caracterizado por presentar serias desigualdades en el acceso a los servicios de salud?
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Planificación familiar: ¿Cómo afectan a la responsabilidad parental la difusión del cribado neonatal no invasivo, el uso de la prueba de portadores o los diferentes tipos de diagnóstico genético preimplantacional?
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Inicio/transformación de “tratamientos” preventivos: ¿Qué impacto tienen los “tratamientos” preventivos (desde las profilaxis farmacológicas en una intervención quirúrgica hasta la introducción de un dispositivo médico como el marcapasos)?
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Inscripción en programas de vigilancia permanente: ¿Qué significa pasar a formar parte de una “vigilancia de por vida” debido a una predisposición genética detectada de manera temprana? ¿Cómo es vivir como un “pre-paciente” o un “paciente-en-espera”? ¿De qué manera el cribado genético mejora y refuerza las prácticas de autovigilancia y aquella ideología basada en optimizar el estado de salud y de bienestar propio?
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Comité científico:
L. Berlivet, C. Bourgain, V. Pavone, M. Turrini, A. WahlbergComité local:
A. Boe Hüttel, V. Pavone, M. Turrini-
Programa
Primer jornada – 23 de noviembre
9:00-9:10: Bienvenido
9:10-10.30: Framing genetic screening
Moderador:
Luc Berlivet (Centro Nacional Francés de Investigación Científica, CNRS)
Ponentes:
Mauro Turrini (Consejo Superior de Investigaciones Científicas, CSIC)
Mapping Genetic Screening between Public Health and Personalized Medicine: Analyzing the proliferation of genetic testing for “healthy” people
Stuart Hogarth (Universidad de Cambridge)
Blockbuster diagnostics: Analysing the new wave of genomic cancer screening through the lens of comparative political economy11:00-12:50: Inadvertent, “de facto” screening: When screening tests are not presented as such
Moderador:
Vincenzo Pavone (Consejo Superior de Investigaciones Científicas, CSIC)
Ponentes:
Ayo Wahlberg (Universidad de Copenhague)
Surveillance Life: Predisposed in Welfare State Denmark
Sandrine de Montgolfier (Universidad de Aix Marseille)
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
Catherine Bourgain (Instituto Nacional Francés de Salud e Investigación Médica de Francia, Inserm)
Whole Genome sequencing in healthcare, from incidental findings to de facto screening – Insights from a French case study
13:00-14:00: Almuerzo
14:00-17:00: Routinizing genetic tests during pregnancy: Non-invasive prenatal screening
Moderador:
Pablo Santoro Domingo (Universidad Complutense de Madrid)
Ponentes:
Daniel Navon (Universidad de California San Diego)
Our Uncertain Eugenics: Social theory in the age of non-invasive prenatal genetics
Adeline Perrot (Universidad de Oxford)
Social, ethical and legal issues raised by the development of genomic sequencing techniques in antenatal care
Pausa café
Carine Vassy (Université Sorbonne Paris Nord)
Geneticization of fetal anomaly screening: jurisdictional and semantic issues in France
Ingrid Metzler (Universidad Karl Landsteiner de Ciencias de la Salud)
Mapping the the moral geography of prenatal testingSegunda jornada – 24 de noviembre
9:00-10:50: At the frontiers of collective health service:Genetic screening offered directly to consumer and in assisted reproduction clinics
Moderador:
Ayo Wahlberg (Universidad de Copenhague)
Ponentes:
Pablo Santoro Domingo & Rubén Blanco Merlo (Universidad Complutense de Madrid)
“Would you like to know the date of your death?”. Visions about screening in a qualitative study about DTC genetic testing
Astrid Boe Hüttel (Consejo Superior de Investigaciones Científicas, CSIC)
“An act of love” – An anthropological analysis of the construction of pre-conceptive parenthood
Vincenzo Pavone & Paula Bosch Garcia de Araoz (Consejo Superior de Investigaciones Científicas, CSIC)
My genes, your genes: adds-on and genetics in the Spanish Reproductive Bioeconomy10.50-11.20: Pausa café
11:20-12:40: Pairing gametes through genetics
Moderador:
Rubén Blanco Merlo (Universidad Complutense de Madrid)
Ponentes:
Vincenzo Pavone & Mauro Turrini (Consejo Superior de Investigaciones Científicas, CSIC):
A perfect match. Routinizing Genetic Matching (GM) in Spanish Assisted Reproduction
Flor Arias (Universidad de Extremadura):
Legal aspects of genetic tests in assisted reproduction treatments with donated gametes
12:40-14:00: Almuerzo
14:00-15:20: Planning a family through genetics. Past and present of carrier, preconceptional screening
Moderador:
Mauro Turrini (Consejo Superior de Investigaciones Científicas, CSIC)
Ponentes:
Luc Berlivet (Centro Nacional Francés de Investigación Científica, CNRS):
Population mapping with a eugenic purpose: the genetic screening of thalassemia carriers in post-war Italy’
Cathy Herbrand (Universidad De Monfort)
Preconception expanded carrier screening in the UK15.20-15:40: Pausa café
15:40-17:00: Interdisicplinary medical perspectives between public health and genetics
Moderador:
Catherine Bourgain (Instituto Nacional Francés de Salud e Investigación Médica de Francia, Inserm)
Ponentes:
Fernando García López, (Centro Nacional de Epidemiología, Instituto de Salud Carlos III)
Screening: promises and realities
Carmen Ayuso (Hospital Universitario y Universidad Autónoma de Madrid, UAM)
Cuestiones médica y normativas relacionadas con la aplicación de pruebas de cribado genético de nueva generación en distintos campos médicosResúmenes
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, CSICAs 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 CopenhagueAs 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 MarseilleThis 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 OxfordGenome-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 13In 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, KremsI 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, CSICThe 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, CSICOver 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, CSICGenetic 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.
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