##plugins.themes.bootstrap3.article.main##


Marion Rosier https://orcid.org/0000-0002-3080-2974

Myriam Guedj https://orcid.org/0000-0002-8855-1266

Patrick Calvas https://orcid.org/0000-0002-7293-3382

Sophie Julia https://orcid.org/0000-0003-1272-528X

Christelle Garnier https://orcid.org/0000-0002-6522-8650

Anne Cambon-Thomsen https://orcid.org/0000-0001-8793-3644

Maria Teresa Muñoz Sastre

Resumen

Con el progreso en medicina genética, las técnicas de secuencias de genomas están volviéndose más eficientes. Sin embargo, estos test genéticos pueden llevar a la detección de hallazgos no solicitados, e.g., hallazgos que no son el propósito primario del escaneo. Nuevos problemas éticos han surgido, en particular la pregunta de si revelar o no estos hallazgos no solicitados al paciente. 47 Pacientes bajo supervisión en un servicio de Medicina Genética, 15 profesionales de la salud y 107 miembros de la población general francesa, expresaron su opinión respecto a lo apropiado de revelar un hallazgo genético no solicitado de alto efecto en 36 escenarios con 3 piezas de información sobre: a) información del paciente y consentimiento, b) posibilidad de prevención y tratamiento de la enfermedad genética detectada, y c) revelación de los resultados por parte del médico (e.g., no revelar de los resultados no solicitados). Se encontraron cuatro posiciones que fueron llamadas Respeto por la autonomía del paciente, Beneficencia al paciente, No-maleficencia, y Siempre apropiado.

##plugins.themes.bootstrap3.article.details##

Keywords

Francia, medicina genética, hallazgos no solicitados, revelación al paciente

References
Allyse, M., & Michie, M. (2013). Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. Trends in Biotechnology, 31(8), 439-441.

Anderson, N. H. (1996). A functional theory of cognition. Mahwah, NJ: Lawrence Erlbaum Associates.

Anderson, N. H. (2016). Information integration theory: Unified psychology based on three mathematıcal laws. Universitas Psychologica, 15(3). https://doi.org/10.11144/Javeriana.upsy15-3.iitu

Beauchamp, T. L., & Childress, J. F. (2001). Principles of Biomedical Ethics (5th ed.). Oxford, England: Oxford University Press.

Berg, J. S., Khoury, M. J., & Evans, J. P. (2011). Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 13(6), 499-504. https://doi.org/10.1097/GIM.0b013e318220aaba

Bijlsma, R. M., Wessels, H., Wouters, R. H. P., May, A. M., Ausems, M. G. E. M., Voest, E. E., & Bredenoord, A. L. (2017). Cancer patients’ intentions towards receiving unsolicited genetic information obtained using next-generation sequencing. Familial Cancer, 17(2), 1-8. https://doi.org/10.1007/s10689-017-0033-7

Christenhusz, G. M., Devriendt, K., & Dierickx, K. (2013). To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts. European Journal Of Human Genetics: EJHG, 21(3), 248-255. https://doi.org/10.1038/ejhg.2012.130

Clift, K. E., Halverson, C. M. E., Fiksdal, A. S., Kumbamu, A., Sharp, R. R., & McCormick, J. B. (2015). Patients’ views on incidental findings from clinical exome sequencing. Applied & Translational Genomics, 4, 38-43. https://doi.org/10.1016/j.atg.2015.02.005

Downing, N. R., Williams, J. K., Daack-Hirsch, S., Driessnack, M., & Simon, C. M. (2013). Genetics specialists’ perspectives on disclosure of genomic incidental findings in the clinical setting. Patient Education and Counseling, 90(1), 133-138. https://doi.org/10.1016/j.pec.2012.09.010

Green, R. C., Berg, J. S., Berry, G. T., Biesecker, L. G., Dimmock, D., Evans, J. P., … Jacob, H. J. (2012). Exploring Concordance and Discordance for Return of Incidental Findings from Clinical Sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 14(4), 405-410. https://doi.org/10.1038/gim.2012.21

Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., … Biesecker, L. G. (2013). ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 15(7), 565-574. https://doi.org/10.1038/gim.2013.73

Green, R. C., Lupski, J. R., & Biesecker, L. G. (2013). Reporting Genomic Sequencing Results to Ordering Clinicians. JAMA : The Journal of the American Medical Association, 310(4), 365-366. https://doi.org/10.1001/jama.2013.41703

Guedj, M., Muñoz Sastre, M. T., Mullet, E., & Sorum, P. C. (2006). Do French lay people and health professionals find it acceptable to breach confidentiality to protect a patient’s wife from a sexually transmitted disease? Journal of Medical Ethics, 32(7), 414-419. https://doi.org/10.1136/jme.2005.012195

Guedj, M., Sorum, P. C., & Mullet, E. (2012). French lay people’s views regarding the acceptability of involuntary hospitalization of patients suffering from psychiatric illness. International Journal of Law and Psychiatry, 35(1), 50-56. https://doi.org/10.1016/j.ijlp.2011.11.010

Haute Autorité de Santé. (2013). Règles de bonnes pratiques en génétique constitutionnelle à des fins médicales (Hors diagnostic prénatal). Retrieved from http://www.has-sante.fr/portail/upload/docs/application/pdf/2013-02/regles_de_bonne_pratique_en_genetique_constitutionnelle_a_des_fins_medicales.pdf

Hehir-Kwa, J. Y., Claustres, M., Hastings, R. J., van Ravenswaaij-Arts, C., Christenhusz, G., Genuardi, M., … Robinson, P. N. (2015). Towards a European consensus for reporting incidental findings during clinical NGS testing. European Journal of Human Genetics, 23(12), 1601-1606. https://doi.org/10.1038/ejhg.2015.111

Igier, V., Sastre, M. T. M., Sorum, P. C., & Mullet, E. (2015). A Mapping of People’s Positions Regarding the Breaking of Bad News to Patients. Health Communication, 30(7), 694-701. https://doi.org/10.1080/10410236.2014.898013

Journal officiel de la République Française. (2013, 27 de mayo). Définissant les règles de bonnes pratiques applicables à l’examen des caractéristiques génétiques d’une personne à des fins médicales. Recuperado de https://www.legifrance.gouv.fr/affichTexte.do?cidTexte=JORFTEXT000027513617

Kalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C., Evans, J. P., … Miller, D. (2017). Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genetics in Medicine, 19(2), 249-255. https://doi.org/10.1038/gim.2016.190

Lemke, A. A., Bick, D., Dimmock, D., Simpson, P., & Veith, R. (2013). Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study. Clinical Genetics, 84(3), 230-236. https://doi.org/10.1111/cge.12060

Lohn, Z., Adam, S., Birch, P., Townsend, A., & Friedman, J. (2013). Genetics professionals’ perspectives on reporting incidental findings from clinical genome-wide sequencing. American Journal of Medical Genetics Part A, 161(3), 542-549. https://doi.org/10.1002/ajmg.a.35794

Lolkema, M. P., Gadellaa-van Hooijdonk, C. G., Bredenoord, A. L., Kapitein, P., Roach, N., Cuppen, E., … Voest, E. E. (2013). Ethical, legal, and counseling challenges surrounding the return of genetic results in oncology. Journal Of Clinical Oncology: Official Journal Of The American Society Of Clinical Oncology, 31(15), 1842-1848. https://doi.org/10.1200/JCO.2012.45.2789

Middleton, A., Morley, K. I., Bragin, E., Firth, H. V., Hurles, M. E., Wright, C. F., & Parker, M. (2015). Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research. European Journal of Human Genetics, 24, 21-29 https://doi.org/10.1038/ejhg.2015.58

Ormond, K. E., Wheeler, M. T., Hudgins, L., Klein, T. E., Butte, A. J., Altman, R. B., … Greely, H. T. (2010). Challenges in the clinical application of whole-genome sequencing. The Lancet, 375(9727), 1749-1751. https://doi.org/10.1016/S0140-6736(10)60599-5

Ploem, C. (2014). Handling Unsolicited Findings in Clinical Care: A Legal Perspective. European Journal of Health Law, 21(5), 489-504. https://doi.org/10.1163/15718093-12341336

Regier, D. A., Peacock, S. J., Pataky, R., van der Hoek, K., Jarvik, G. P., Hoch, J., & Veenstra, D. (2015). Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment. Canadian Medical Association Journal, 187(6), E190-E197. https://doi.org/10.1503/cmaj.140697

Rigter, T., van Aart, C. J. A., Elting, M. W., Waisfisz, Q., Cornel, M. C., & Henneman, L. (2014). Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients. Clinical Genetics, 85(5), 417-422. https://doi.org/10.1111/cge.12299

Roche, M. I., & Berg, J. S. (2015). Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice. Current Genetic Medicine Reports, 3(4), 166-176. https://doi.org/10.1007/s40142-015-0075-9

Sedkaoui, H., & Mullet, E. (2016). Mapping French people's views on chemical castration of child and adolescent sex offenders. Universitas Psychologica, 15(3). https://doi.org/10.11144/Javeriana.upsy15-3.mfpv,

Shahmirzadi, L., Chao, E. C., Palmaer, E., Parra, M. C., Tang, S., & Gonzalez, K. D. F. (2014). Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 16(5), 395-399. https://doi.org/10.1038/gim.2013.153

Townsend, A., Adam, S., Birch, P. H., Lohn, Z., Rousseau, F., & Friedman, J. M. (2012). “I want to know what’s in Pandora’s Box”: comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing. American Journal of Medical Genetics Part A, 158A(10), 2519-2525. https://doi.org/10.1002/ajmg.a.35554

van El, C. G., Cornel, M. C., Borry, P., Hastings, R. J., Fellmann, F., Hodgson, S. V., … de Wert, G. M. W. R. (2013). Whole-genome sequencing in health care. European Journal of Human Genetics, 21(6), 580-584. https://doi.org/10.1038/ejhg.2013.46

Wolf, S. M., Annas, G. J., & Elias, S. (2013). Patient Autonomy and Incidental Findings in Clinical Genomics. Science, 340(6136), 1049-1050. https://doi.org/10.1126/science.1239119

Wolf, S. M., Lawrenz, F. P., Nelson, C. A., Kahn, J. P., Cho, M. K., Clayton, E. W., … Wilfond, B. S. (2008). Managing incidental findings in human subjects research: analysis and recommendations. The Journal of Law, Medicine & Ethics: A Journal of the American Society of Law, Medicine & Ethics, 36(2), 219-248, 211. https://doi.org/10.1111/j.1748-720X.2008.00266.x

Yu, J. -H., Harrell, T. M., Jamal, S. M., Tabor, H. K., & Bamshad, M. J. (2014). Attitudes of Genetics Professionals Toward the Return of Incidental Results from Exome and Whole-Genome Sequencing. American Journal of Human Genetics, 95(1), 77-84. https://doi.org/10.1016/j.ajhg.2014.06.004
Cómo citar
Rosier, M., Guedj, M., Calvas, P., Julia, S., Garnier, C., Cambon-Thomsen, A., & Muñoz Sastre, M. (2018). Puntos de vista de franceses respecto a lo apropiado de revelar hallazgos no solicitados en medicina genética: Un estudio preliminar. Universitas Psychologica, 17(4), 1-11. https://doi.org/10.11144/Javeriana.upsy17-4.fpva
Sección
Artículos
Artículos más leídos del mismo autor/a