Palabras clave
Medicina de precisión
ADN
DOI:
https://doi.org/10.17566/ciads.v9i3.655Cómo citar
Resumen
Objetivo: reflexionar sobre el uso de pruebas genéticas directas al consumidor, especialmente en Portugal, que a pesar de estar prohibidas por la legislación nacional, pueden adquirirse a través de Internet. Metodología: se utilizó un método deductivo basado en el análisis de la literatura científica en revistas especializadas y legislación (inter) nacional, con mayor atención a los desarrollos en Estados Unidos, por ser el país que alberga la mayor cantidad de empresas y laboratorios que comercializan derechos del consumidor de pruebas genéticas. Resultados: apesar de estar prohibido por la legislación nacional, ahora cualquiera puede solicitar un kit de ADN a través de Internet, especialmente en sitios web estadounidenses, donde es factible realizar pruebas genéticas a precios asequibles. Mediante una autocolección, mediante frotis oral, la persona envía la muestra por correo, y luego de un breve registro en el sitio web de la empresa, ahora recibirá notificaciones con información sobre su composición genética. En otros países, la investigación sobre pruebas genéticas directas al consumidor ya es exhaustiva, encontrando varias deficiencias en su práctica, especialmente en cuanto al consentimiento informado y la confiabilidad de los resultados, ya que muchos estudios demuestran la disparidad de resultados para una misma muestra cuando sometido a diferentes laboratorios. En Portugal, el tema sigue siendo bastante escaso y, aunque están prohibidas, estas pruebas son de fácil acceso. Conclusión: es fundamental reflexionar sobre el sometimiento a pruebas genéticas y las implicaciones que tienen, no solo en la vida de quienes se someten a la prueba, sino también de quienes comparten el material genético, especialmente en situaciones de pruebas genéticas directas al consumidor en las que no hay consejo prévio.
Referencias
Iriart JAB. Medicina de precisão/medicina personalizada: análise crítica dos movimentos de transformação da biomedicina no início do século XXI. Cadernos de Saúde Pública. 2019; 35 (3):1-14. DOI: 10.1590/0102-311X00153118
Cruz ACG. Base de Dados Genéticos. Nascer e Crescer: Revista do Hospital de Crianças Maria Pia. 2019; XVIII (4):275-282. Disponível em: http://repositorio.chporto.pt/bitstream/10400.16/1430/1/BaseDados_18-4.pdf
Phillips KA, Trosman J, Kelley RK, Pletcher MJ, Douglas MP, Weldon CB. Genomic Sequencing: Assessing The Health Care System, Policy, and Big-Data Implications. Health Affairs. 2014; 33 (7):1246-1253. DOI: 10.1377/hlthaff.2014.0020.
What is the Human Genome Project? National Human Genome Research Institute. Disponível em: https://www.genome.gov/human-genome-project/What
Horton RH, Lucassen AM. Recent developments in genetic/genomic medicine. Clin Sci (Lond). 2019; 133 (5):697-708. DOI: 10.1042/CS20180436
Berkman B. Refuting the Right not to Know. Journal of Health Care Law & Policy. 2017; 19(1):1-71. Disponível em: https://digitalcommons.law.umaryland.edu/cgi/viewcontent.cgi?article=1340&context=jhclp
Jen MY, Varacallo M. Predictive Medicine. StatPearls Publishing. 2020. Disponível em: https://www.ncbi.nlm.nih.gov/books/NBK441941/
Pascal S. Direct-to-Consumer Genetic Testing: A Comprehensive View. Yale Journal of Biology and Medicine. 2013; 86:359-365. Disponível em: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3767220/
Clayton EW, Evans BJ, Hazel JW, Rothstein MA. The law of genetic privacy: applications, implications, and limitativos. Journal of Law and the Biosciences. 2019; 8:1-36. DOI: https://doi.org/10.1093/jlb/lsz007
Via M. Big Data in Genomics: Ethical Challenges and Risks. Revista de Bioética y Derecho. 2017; 41:33-45. Disponível em: http://scielo.isciii.es/pdf/bioetica/n41/1886-5887-bioetica-41-00033.pdf
Fündling C. The Right to Know and the Right Not to Know in Genetic Diagnosis. 1-7. http://www.imgwf.uni-luebeck.de/klausurwoche/data/handout/Fuendling_handout.pdf
Portugal. Lei n.º 12/2005 de 26 de janeiro. Informação genética pessoal e informação de saúde. Diário da República.
Lea DH, Williams J, Donahue P. Ethical Iissues in Genetic Testing. J Midwifery Womens Health. 2005; 50 (3):234-240. Disponível em https://www.medscape.com/viewarticle/505222_1
Schroeder A. Das Recht auf Nichtwissen im Kontext prädiktiver Gendiagnostik: Eine Studie zum ethisch verantworteten Umgang mit den Grenzen des Wissens. VS Verlag für Sozialwissenschaften; 2015.
Marchesini S. Direito de Não Saber: breves notas. Anais do I Webcongresso de Direito Sanitário. 2017; 6(suplemento parte 4):908-916. Disponível em: https://www.cadernos.prodisa.fiocruz.br/index.php/cadernos/article/view/450/507
Prainsack B. DIY: the right to know your own genome, In Chadwick R, Levitt M, Shickle D (Eds.). The Right to Know and the Right Not to Know: Genetic Privacy and Responsibility. Cambridge: Cambridge University Press. 2014. p. 100-115. DOI:10.1017/CBO9781139875981.010
Harris A, Kelly SE, Wyatt S. Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market. J. Genetic Counseul. 2013; 22:277-288. DOI: 10.1007/s10897-012-9548-
DTC genetic testing market poised to grow with a double digit CAGR during the forecast period. Credence Research. 2018. Disponível em: https://www.credenceresearch.com/report/direct-to-consumer-genetic-testing-market
Goldsmith L, Jackson L, O´Connor A, Skirton H. Direct-to-consumer genomic testing: systematic review of the literature on user perspectives. European Journal of Human Genetics. 2010; 20(8):811-816. DOI: 10.1038/ejhg.2012.18
Phillips A. Only a click away - DTC genetics for ancestry, health, love … and more: a view of the business and regulatory landscape. Applied Translational Genomics. 2016; 8:16-22. DOI: 10.1016/j.atg.2016.01.001
Borry P, Cornel MC, Howard HC. Where are you going, where have you been: a recente history of the direct-to-consumer genetic testing market. J Community Genet. 2010; 1(3): 101-106. DOI: 10.1007/s12687-010-0023-z.
Bryant T. Global study on direct-to-consumer genetic testing market size, share and demand outlook 2016 to 2022 – credence research. Salisonline. 19 dez 2016 [Acesso em 30.mar.2020]. Disponível em: http://www.salisonline.org/genetic-testing-market/
Smith C. Direct to consumer genetic testing market (DTC) to hit US$ 611.2 Mn by 2026: size and forecast, credence research. http://dailytransparent.com/news/direct-to-consumer-genetic-testing-market-dtc-to-hit-us-611-2-mn-by-2026-size-and-forecast-credence-research/0166265
Turrini M, Prainsack B. Beyond clinical utility. The multiple values of DTC genetics. Applied & Translational Genomics. 2016; 8:4-8. DOI: 10.1016/j.atg.2016.01.008
Tandy-Connor S. False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genetic in Medicine. 2018; 20 (12): 1515-1521. Disponível em: https://www.nature.com/articles/gim201838
Hall J, Gertz R, Amato J, Pagliari C. Transparency of genetic testing services for «health, wellness and lifestyle»: analysis of online prepurchase information for UK consumers. European Journal of Human Genetics. 2017; 25 (8):908-917. DOI: 10.1038/ejhg.2017.75.
Ommen GB, Cornel MC. Recreational genomics? Dreams and Fears on genetic susceptibility screening. European Journal of Human Genetics. 2008; 16:403–404. Disponível em: https://www.nature.com/articles/ejhg200832
Gullapalli RR. e colaboradores. Next generation sequencing in clinical medicine: challenges and lessons for pathology and biomedical informatics. J. Pathol Inform. 2012; 3(40). DOI: 10.4103/2153-3539.103013
Laestadius LL, Rich JR, Auer PL. All you data (effectively) belong to us: data practices among direct-to-consumer genetic testing firms. Genetics in Medicine. 2017; 19 (5):513-520. Disponível em: https://www.nature.com/articles/gim2016136
Jail term for fake DNA tests boss. BBC News. 24 set 2004 [Acesso em 30.mar.2020]. Disponível em: http://news.bbc.co.uk/2/hi/uk_news/england/dorset/3686864.stm [Acesso em 30.mar.2020]
Ortiz AP, López M, Flores LT, Soto-Salgado M, Rutten LJF, Serrano-Rodriguez RA, et al. Awareness of Direct-to-Consumer Gentic tests use for genetic tests among Purto Rican adults, 2009. Preventing Chronic Disease, Public Health Research, Practive, and Policy. 2011; 8 (5): A110. Disponível em: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3181183/
Brett GR, Metcalfe SA, Amor DJ, Halliday JL. An exploration of genetic health professionals´ experience with direct-to-consumer genetic testing in their clinical practice. European Journal of Human Genetics, 2012; 20: 825-830. Disponível em: https://www.nature.com/articles/ejhg201213
Evans JP. Recreational genomics; what´s in it for yo? Genet. Med. 2008; 10(10):709-710. DOI: 10.1097/GIM.0b013e3181859959
United States of America, Before the Federal Trade Comission, 2014 [Acesso em 30.mar.2020]. Disponível em: https://www.ftc.gov/system/files/documents/cases/140512genelinkcmpt.pdf
Moody O. DNA testers tell dog to take up basketball. The Times Sect. Science. 5 Mai 2018 [Acesso em 30.mar.2020]. Disponível em: https://www.thetimes.co.uk/article/doubts-over-dna-tests-after-company-fails-to-spot-its-client-was-a-dog-zpwhwr9m5
Surbone A. Social and ethical mplications og BRCAtesting. Annals of Oncology. 2011; 22, supp.1:I-60-I66. DOI: https://doi.org/10.1093/annonc/mdq668
Otero JMM. Better not to know?: Justificable limits on the right to inofrmation in the realme of DTC genetic testing. An analysis of the European and Spanish Legal Framework. European Journal of Health Law. 2017; 24(2):175-197. DOI:10.1163/15718093-12023441.
Moscarello T. Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain? Genetics in Medicine. 2019; 21(5):539-541. Disponível em: https://www.nature.com/articles/s41436-018-0097-2
Graeme L. In defense of ignorance: Genetic infotmation and the right not to know”, European Journal Health Law. 1999; 6:119:132. Disponível em: https://heinonline.org/HOL/LandingPage?handle=hein.journals/eurjhlb6&div=19&id=&page=
Jan D. Patient rights, risk, and responsabilities in the genetic era – a right to know, a right not to know, or a duty to know? Annals of Agricultural and Environmental Medicine. 2015; 22(1):156-162. DOI: 10.5604/12321966.1141387
Ray T, Thimas UG. Startup Guardiome Emphasizes Privacy in New WGS Consumer Offering. Genomeweb. 29 dez 2015 [Acesso em 30.mar.2020]. Disponível em https://www.genomeweb.com/sequencing/startup-guardiome-emphasizes-privacy-new-wgs-consumer-offering#.XnN9qqj7SiM
Santos HG, Pereira AGP. Genética para todos: de Mendel à Revolução Genómica do Século XXI: a prática, a ética, as leis e a sociedade. Lisboa: Gradiva; 2019.
Silva ARVS. Testes genéticos de venda direta ao consumidor (Questões ético-legais no mercado português) Dissertação de Mestrado. Lisboa: Escola Nacional de Saúde Pública, 2014.
Portugal. Decreto-Lei n.º 131/2014, de 29 de agosto. Regulamenta a Lei n.º 12/2005, de 26 de janeiro, no que se refere à proteção e confidencialidade da informação genética, às bases de dados genéticos humanos com fins de prestação de cuidados de saúde e investigação em saúde, às condições de oferta e realização de testes genéticos e aos termos em que é assegurada a consulta de genética médica. Diário da República.
Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial 4.0.
Derechos de autor 2020 Sephora Luyza Marchesini Stival