The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

Soini, Sirpa; Ibarreta, Dolores; Anastasiadou, Violetta; Aymé, Ségolène; Braga, Suzanne; Cornel, Martina C.; Coviello, Domenico; Evers‐Kiebooms, Gerry; Geraedts, Joep; Gianaroli, Luca; Harper, Joyce; Kosztolányi, György; Lundin, Kersti; Rodrigues-Cerezo, Emilio; Sermon, Karen; Sequeiros, Jorge; Tranebjærg, Lisbeth; Kääriäinen, Helena

doi:10.1038/sj.ejhg.5201598

Cited by 140 publications

(109 citation statements)

References 200 publications

(250 reference statements)

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“…The need for thorough quality assurance in assisted reproduction has been underlined for clinics, laboratories and treatment procedures, with the suggestion that European providers should have a formal quality system. 3,4 Despite this call and the recent publication of voluntary best practice guidelines for PGD, 5,6 little information exists on current practice. In response to these concerns, the European Commission's Joint Research Centre launched a study in collaboration with EuroGentest and ESHRE (involving mainly the ESHRE PGD Consortium), in which a survey was conducted to assess the provision of PGD services in Europe, the access by patients and the current state of quality assurance.…”

Section: Introductionmentioning

confidence: 99%

“…As a result of differences in regulation, legislation and technical infrastructure between European countries, 3 patients and/or samples are often referred internationally, but data are lacking on the scale and nature of international flow as well as on access to PGD across Europe. The need for thorough quality assurance in assisted reproduction has been underlined for clinics, laboratories and treatment procedures, with the suggestion that European providers should have a formal quality system.…”

Section: Introductionmentioning

confidence: 99%

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Provision and quality assurance of preimplantation genetic diagnosis in Europe

et al. 2007

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Preimplantation genetic diagnosis (PGD) is now well established and provided in many European countries. However, regulations, professional standards and accreditation requirements can differ notably. Furthermore, no comprehensive independent data exist either about practice and provision in Europe or about the quality assurance practices and procedures designed to optimize the quality of the results. Consequently, a study was launched to obtain knowledge, currently lacking, of the provision and quality assurance of PGD services and cross-border activities in Europe. An online questionnaire was developed and sent to PGD providers, and expert opinions were obtained through interviews with professionals in specific countries. Information was gathered from 53 centres offering PGD in 17 European countries. There is a diverse array of tests available, with a trend for custom-made services. Although half of the centres have a designated quality manager, just 33% have achieved or are preparing for accreditation or certification. About 66% of the centres responded that they did not participate in external quality assessment, a problem exacerbated by the lack of existing PGD-specific schemes. Approximately 19% of the centres do not keep data on accuracy and 9% do not even follow up until birth. PGD is an expanding activity with an increasing international flow that accounts for approximately one-third of the activity reported. The survey highlights a significant need for improvement in quality assurance in PGD centres. On the positive side, important improvements in the quality management of these services are expected with the European Tissue Directive entering into force.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Provision and quality assurance of preimplantation genetic diagnosis in Europe

et al. 2007

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“…En el mundo crece la oferta de biobancos y centros de recursos biológicos (41) y, con ello, también se han establecido normas en el ámbito internacional (42). Mediante los avances científicos, hoy es posible obtener embriones humanos clónicos (43), así como inducir la eugenesia a partir de las tecnologías de reproducción asistida (44,45). Esta posibilidad plantea problemas éticos de gran envergadura desde el punto de vista social, cultural y económico.…”

Section: Aspectos éTicos De La Investigación Genética Y Su Impacto Enunclassified

Commented review of the Colombian legislation regarding the ethics of health research

Lopera¹

2017

biomedica

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La ética de la investigación en salud no se agota en el marco normativo y trasciende la Resolución 8430 de 1993. Las normas constituyen una herramienta fundamental que determina los estándares mínimos de protección de los sujetos de investigación y, por lo tanto, su conocimiento y aplicación, así como la reflexión sobre ellas, son deberes de todos los investigadores en salud. En este texto se presentan y discuten desde un punto de vista analítico las normas para el ejercicio de la investigación en salud, entendiendo por salud un proceso multidimensional y por investigación en salud, un proceso multidisciplinario que trasciende este campo y abarca la investigación básica, la clínica y de salud pública, la colectiva y la de ciencias afines. Las principales categorías analíticas que se presentan se relacionan con los principios y los participantes en la investigación, las entidades reguladoras, los comités de ética y los sujetos y poblaciones especiales o vulnerables, y con los códigos de ética profesional, el consentimiento informado y el tratamiento de los datos. A pesar de los aportes de las normas éticas a la cualificación del ejercicio investigativo en salud, se concluyó que la normatividad vigente en Colombia debe actualizarse con respecto a los desarrollos técnicos y científicos y las especificidades de los diversos tipos de investigación en salud.Palabras clave: comités de ética en investigación; códigos de ética; ética basada en principios, ética clínica, ética profesional; legislación. doi: https://doi.org/10.7705/biomedica.v34i2.3333 Commented review of the Colombian legislation regarding the ethics of health researchThe scope of ethics in health research transcends its legal framework and the regulations established in Resolution 8430 of 1993. These norms represent a fundamental tool to determine the minimum protection standards for research subjects, and, therefore, they should be known, applied properly, and reflect upon by all researchers in the field. Here I present and discuss from an analytical point of view the regulations that guide research in health. In this framework, health is understood as a multidimensional process, and research in health as a multidisciplinary exercise involving basic, clinical and public health research, collective health, and other related sciences. The main analytical categories are related to the principles and actors involved in research (regulatory authorities, ethical committees, and special or vulnerable subjects and populations), and to professional ethics codes, in addition to informed consents and data management. Despite the contribution of this legislation to the qualification of health research, my conclusion is that the national legislation in ethics for health research requires updating regarding technological and scientific developments, as well as specifications from the multiple types of health studies. La ética de la investigación en salud debe entenderse como un proceso permanente de reflexión que atraviesa todo el ejercicio investigativo y no debe li...

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“…Es necesario asesorar de forma clara, tanto a los facultativos como a los pacientes, acerca de los alcances y limitaciones de los estudios genéticos, de forma que esta información les sea de utilidad para la toma de decisiones. Esta vinculación entre la Genética y la reproducción asistida está ampliamente reconocida por la comunidad científica (Soini et al, 2006), lo cual ha permitido el desarrollo de una serie de estudios genéticos encaminados a establecer el riesgo genético, el diagnóstico o el pronóstico reproductivo en estas parejas.…”

Section: Introductionunclassified

La genética reproductiva

Vendrell

2017

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RESUMEN. El desarrollo de la Genética está estrechamente relacionado con los avances de las técni-cas de reproducción asistida desde los orígenes de éstas a principios de los años 70. Un gran número de estudios genéticos han sido desarrollados especialmente dirigidos a las parejas con deseo reproductivo. Estos estudios permiten determinar el riesgo genético, establecer un diagnóstico o prever el pronóstico reproductivo en estas parejas. Los estudios genéticos están especialmente dirigidos a las mujeres, los varones o los embriones generados mediante técnicas de fecundación in vitro. El presente trabajo pretende revisar los diferentes estudios que actualmente están a disposición de los futuros progenitores. Es especialmente importante establecer las causas de la infertilidad, cuando existe, para poder indicar un tratamiento adecuado. Asimismo, resulta capital clarificar el riesgo genético para la descendencia en determinados escenarios, para poder evitar la aparición de trastornos graves en la descendencia. En este contexto, el asesoramiento genético reproductivo preconcepción es enormemente importante y debe estar a disposición de los pacientes.PALAbRAS cLAvE: genética reproductiva, asesoramiento genético, preconcepción, preimplantación, herencia, reproducción, fecundación in vitro, descendencia. The reproductive geneticsAbSTRAcT. The development of Genetics is closely related with the assisted reproduction technologies from its beginnings at early 1970s. very high quantities of genetic tests have been developed for couples. These tests allow stablishing the genetic risk, the diagnosis or the reproductive prognosis depending on the couple. The tests are designed to women, men or preimplantation embryos generated by in-vitro fertilization techniques. This paper aims to review the different studies that are currently available to future parents. The establishment of infertility causes is crucial in order to indicate proper treatments. Furthermore, the estimation of genetic risk is decisive to avoid serious disorders in the offspring. In this context, the preconception genetic counselling is extremely important and should be available to patients.

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The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

Cited by 140 publications

References 200 publications

Provision and quality assurance of preimplantation genetic diagnosis in Europe

Provision and quality assurance of preimplantation genetic diagnosis in Europe

Commented review of the Colombian legislation regarding the ethics of health research

La genética reproductiva

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