Milestones of Precision Medicine: An Innovative, Multidisciplinary Overview

García‐Foncillas, Jesús; Argente, Jesús; Bujanda, Luís; Cardona, Victòria; Casanova, Bonaventura; Férnández-Montes, Ana; Horcajadas, José A.; Íñiguez, Andrés; Ortíz, Alberto; Pablos, José L.; Gomez, Maria Vanessa Perez

doi:10.1007/s40291-021-00544-4

Cited by 10 publications

(12 citation statements)

References 129 publications

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“…Esta acción constituye otra diferencia con los estudios moleculares tumorales, ya que el resultado se recibe por los médicos tratantes, quienes explican los resultados de los estudios y lo aplican al diagnóstico y tratamiento. No se guarda un entorno de confidencialidad, y no amerita un asesoramiento genético preprueba y posprueba, como ocurre en los estudios de predisposición a cáncer 33 .…”

Section: Asesoramiento Genético En Cáncer Hereditariounclassified

“…Dos procesos independientes pueden contribuir a solventar los retos expuestos. El primer proceso, el asesoramiento genético, brinda un enfoque educativo del objetivo del estudio (apoyo para la comprensión del padecimiento, herramienta para toma de decisiones médicas, prevención) 30,33 . El segundo proceso, el CI, buscará explicar los beneficios de realizar el estudio, las limitaciones y consideraciones del análisis.…”

Section: Dilemas Bioéticos En Cáncer Hereditario: Consentimiento Info...unclassified

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El consentimiento informado en cáncer hereditario

Álvarez-Gómez¹,

Vargas-Huichochea²,

Herrera-Montalvo³

et al. 2023

GAMO

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El término «consentimiento informado» (CI) se refiere al proceso comunicativo indispensable para el acto médico y de investigación, donde una persona aprueba la realización de acciones de diagnóstico y/o tratamiento, o su participación en un protocolo, con pleno conocimiento del objetivo, beneficios, limitaciones y potenciales complicaciones de su decisión. El CI implica elementos éticos indispensables: a) la información, suficiente y clara para facilitar su comprensión; b) la capacidad de la persona invitada para tomar decisiones, siendo competente física, mental y legalmente, y c) la voluntariedad del proceso, para una decisión libre de coerción. En el análisis genético de predisposición a cáncer se han documentado retos bioéticos específicos del CI como la explicación de información compleja, resultados de relevancia futura para la salud propia y familiar, la propiedad del resultado y la incertidumbre de resultados de significado incierto, entre otros. Existe una convergencia del CI con el proceso del asesoramiento genético, cuyo objetivo es educar acerca de las enfermedades hereditarias y sus implicaciones. Su aparente similitud ha restringido la óptima realización de uno u otro proceso, limitando sus respectivos beneficios. La presente revisión busca brindar un panorama del estado del CI en cáncer hereditario, como punto de referencia para acciones que permitan mejorar su aplicación.

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Section: Asesoramiento Genético En Cáncer Hereditariounclassified

Section: Dilemas Bioéticos En Cáncer Hereditario: Consentimiento Info...unclassified

El consentimiento informado en cáncer hereditario

Álvarez-Gómez¹,

Vargas-Huichochea²,

Herrera-Montalvo³

et al. 2023

GAMO

View full text Add to dashboard Cite

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“…This action constitutes another difference with regard to tumor molecular studies, since the result is received by the treating physicians who explain the results of the studies and apply them to diagnosis and treatment. A confidentiality environment is not preserved, and pre-test and post-test genetic counseling is not required, as it occurs in cancer predisposition studies 33 .…”

Section: Genetic Counseling In Hereditary Cancermentioning

confidence: 99%

“…Two independent processes can contribute to solve the described challenges. The first process, genetic counseling, provides an educational approach to the study objective (support for understanding the condition, a tool for medical decision-making, and prevention) 30,33 . The second process, the IC, will seek to explain the benefits of performing the study, the limitations, and considerations of the analysis.…”

Section: Bioethical Dilemmas In Hereditary Cancer: Informed Consent A...mentioning

confidence: 99%

The informed consent for hereditary cancer

Álvarez-Gómez¹,

Vargas-Huichochea²,

Herrera-Montalvo³

et al. 2023

GAMO

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The term informed consent (IC) refers to the indispensable communicative process for the medical and research act, where a person approves the performance of diagnostic and/or therapeutic actions, or involvement in a research with full comprehension of the objective, benefits, limitations, and potential complications of the decision. The IC involves indispensable ethical elements: (a) information, sufficient, and clear to facilitate its understanding; (b) the capacity of the person invited to make decisions, being physically, mentally, and legally competent, and (c) the voluntariness of the process, for a decision free of coercion. For cancer predisposition molecular testing, IC bioethical challenges have been documented, for example, clarification of complex information, results of future relevance for health and family, the ownership of the result, and the uncertainty value of certain results, among others. There is a convergence of IC with genetic counseling, which aims to educate about inherited diseases. Their apparent similarity has limited the optimal performance of one or the other processes, restraining their respective benefits. The present review seeks to provide an overview of the status of IC in hereditary cancer, as cardinal point for improve its application.

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“…These centers could not only focus on the usual questions for which policy makers need answers but also address two recent developments that have created a new sense of urgency for better and more precise evidencea more nuanced understanding of complex diseases and new transformative treatments. This information is critical if the promise of precision medicine is to be supported by NBS [9,27].…”

Section: Build a Network Of Nbs Research Centersmentioning

confidence: 99%

A Window of Opportunity for Newborn Screening

Bailey

2022

Mol Diagn Ther

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Molecular diagnostics and therapies play a central role in an era of precision medicine, with the promise of more accurate diagnoses and more effective treatments. Universal newborn screening (NBS) identifies those health conditions that must be treated in early life and before clinical symptoms become apparent, to maximize effectiveness, prevent morbidity, and reduce or eliminate mortality. However, enthusiasm about NBS as the logical platform for early identification is tempered by the realization that NBS under public health authority exists in a complex ecology in which technology and medicine intersect with politics, ethics, advocacy, and resource constraints-a classic translational challenge that is exacerbated when considering the possible introduction of genome sequencing and molecular therapies in NBS. Substantial change is inevitable if the current model of NBS can be prepared for an envisioned future of greatly expanded molecular diagnostics and therapies. A window of opportunity for modernization now exists, but what changes are needed? The purpose of this commentary is to identify five major initiatives to stimulate focused discussion on how modernization might be achieved: (1) build systems for more rapid collection and integration of extant data relevant to NBS; (2) establish a national network of NBS research centers to design and conduct prospective research studies addressing critical NBS questions; (3) create a network of regional NBS laboratories to expedite state implementation of new methodologies or screening for newly recommended conditions; (4) establish a new stream of federal funding to provide financial support for states and incentivize national harmonization; and (5) integrate solutions in a way that is strategic and effective. Some aspects of these recommendations suggest that radical policy changes are needed to implement molecular testing in NBS and take advantage of emerging molecular therapies. I focus on recommendations for modernizing NBS in the US, some of which may be applicable in other countries.

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Milestones of Precision Medicine: An Innovative, Multidisciplinary Overview

Cited by 10 publications

References 129 publications

El consentimiento informado en cáncer hereditario

El consentimiento informado en cáncer hereditario

The informed consent for hereditary cancer

A Window of Opportunity for Newborn Screening

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