2021, Number 1
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Revista Cubana de Salud Pública 2021; 47 (1)
Effectiveness and ethical aspects of genetic counseling in Cuba
Rojas BIA, Marcheco TB
Language: Spanish
References: 38
Page: 1-28
PDF size: 777.37 Kb.
ABSTRACT
Introduction: Genetic counseling is the central process in the management of genetic
disorders, hence the importance of assessing its effectiveness.
Objective: Assess the effectiveness and ethical aspects of genetic counseling in Cuba.
Methods: An observational - descriptive - retrospective study was conducted from 2003 to
2013, which consisted of conducting interviews based on instruments designed and validated
with families assisted in genetic counseling services and other citizens; the sample consisted
of 13 142 individuals.
Results: The level of knowledge acquired was good in 71.1% of the participants; very
rational decisions predominated (68.4%); in 74.9% of the families a good adjustment was
achieved in relation to the particular situation. The population is highly satisfied with the
genetic counselling services (89.8%). Most consider secondary diseases prevention to be the
top priority for medical genetics (81.3%), 93% agree with selective abortion as a
reproductive option after a diagnosis of serious and early-onset genetic diseases, and 76.5%
prefer the non-directive approach to genetic counseling.
Conclusions: The genetic counseling offered in the medical genetics services of Cuba is
effective, satisfies the expectations of the population and complies with universally accepted
ethical principles. The methodology designed and applied, based on the organization of
genetic services in Cuba, allows the systematic assessment of genetic counseling, which
males possible their improvement and the chance of devising local strategies to increase their
effectiveness and achieve excellence in the service.
REFERENCES
Reed SC. A short history of genetic counseling. Soc Biol 1994;21:332-39. DOI:10.1080/19485565.1974.9988131
Redlinger-Grosse K, Veach PM, LeRoy BS, Zierhut H. Elaboration of the Reciprocal-Engagement Model of Genetic Counseling Practice: A Qualitative Investigation of Goalsand Strategies. J Genet Couns. 2017 [acceso 16/04/2020];26(6):1372-87. Disponible en:https://www.ncbi.nlm.nih.gov/pubmed/28643080
Cragun D, Zierhut H. Development of FOCUS-GC: framework for outcomes of clinicalcommunication services in genetic counseling. J Genet Counsel 2018;27(1):33-58. DOI:10.1007/s10897-017-0145-0
Stoll K, Kubendran S, Cohen SA. The past, present and future of service delivery ingenetic counseling: Keeping up in the era of precision medicine. Am J Med Genet 2018:1-14. DOI: 10.1002/ajmg.c.31602
Resta RG. What have we been trying to do and have we been any good at it? A history ofmeasuring the success of genetic counseling. European Journal of Medical Genetics2019;62(5):300-7. DOI: 10.1016/j.ejmg.2018.11.003
World Health Organization. Medical genetic services in developing countries. TheEthical, Legal and Social Implications of genetic testing and screening. Human GeneticsChronic Diseases and Health Promotion. Geneva: WHO; 2006. Disponible en:www.who.int/genomics/publications/GTS-MedicalGeneticServices-oct06.pdf
Rojas I. La Escuela Cubana de Asesoramiento Genético. Rev Cubana Genet Comunit.2016 [acceso 16/08/2019];10(2). Disponible en:http://bvs.sld.cu/revistas/rcgc/v10n2/rcgc010216.html
Lantigua PA. Cuarenta años de la Genética Clínica en Cuba. Editorial. Rev Cubana GenetComunit. 2017;11(2):5-7. Disponible en:http://www.revgenetica.sld.cu/index.php/gen/issue/view/5
Chokoshvili D, Belmans C, Poncelet R, Sanders S, Vaes D. Vears D, et al. Public Viewson Genetics and Genetic Testing: A Survey of the General Public in Belgium. GeneticTesting and Molecular Biomarkers. 2017 [acceso 15/05/2019];21(3):195-201. Disponibleen: https://www.ncbi.nlm.nih.gov/pubmed/28306397
Houfek JF, Soltis-Vaughan BS, Atwood JR, Reiser GM. Adults' perceptions of geneticcounseling and genetic testing. Applied Nursing Research. 2015 [acceso15/05/2019];28(1):25-30. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/24794711
Hishiyama Y, Minari J, Suganuma N. The survey of public perception and generalknowledge of genomic research and medicine in Japan conducted by the Japan Agency forMedical Research and Development. J Hum Genet. 2019 [acceso 15/05/2020];64(5):397-407. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/30842598
Almeling R, Gadarian SK. Public opinion on policy issues in Genetics and Genomics.Genet Med. 2014;16(6):491-4. Disponible en:https://www.ncbi.nlm.nih.gov/pubmed/24202084
Clarke AJ, Wallgren-Pettersson C. Ethics in genetic counselling. J Community Genet2019;10(1):3-33. DOI: 10.1007/s12687-018-0371-7
Stejskal D. Clinical genetics in the 21st century. Cas Lek Cesk. 2019 [acceso 15/05/2020];158(1):4-8. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/31046385
Newson AJ, Leonard SJ, Hall A, Gaff CL. Known unknowns: building an ethics ofuncertainty into genomic medicine. BMC Medical Genomics. 2016;9:57. DOI:10.1186/s12920-016-0219-0
Marcheco B, Lantigua A, Rojas I, Benítez Y. Genética Médica en Cuba: sus resultadose impacto en el cuidado de la Salud Materno Infantil en 35 años (1980-2014). Revista Analesde la Academia de Ciencias de Cuba. 2016 [acceso 07/08/2019];6(3). Disponible en:http://www.revistaccuba.sld.cu/index.php/revacc/article/view/624/631
Rojas I, Pérez E, Puñales-Morejón D, Heredero L, Penchaszadeh, VB. Public opinion ofnon - medical professionals regarding ethical aspects of genetic counseling in Cuba. Am JHum Genet 1998; 63(4):A205
Rojas I, Lavaut K, Padilla M, Fuentes L, Martín M. Estudio de Bioética y Genética.Experiencia en un Municipio. Libro de Ponencias/Taller UH-ELACM. Bioética en laEducación Superior. La Habana: CDS Informática para la salud (CEDISAP); 2006.Disponible en:https://isbn.cloud/9789597158264/taller-uh-elacmbioetica-en-la-educacionsuperior/
Rojas I, Llamos A, Marcheco B. Premisas éticas en el diagnóstico prenatal de defectoscongénitos en Cuba. Rev Cub Sal Públ. 2013;39(4):779-90. Disponible en:https://www.scielosp.org/scielo.php?pid=S0864-34662013000400014&script=sci_abstract
Rojas Betancourt I, Marcheco Teruel B. Normas éticas para la realización de pruebaspredictivas en los servicios de Genética Médica de Cuba. Rev Cub Sal Públ. 2018;44(2):360-373. Disponible en: http://scielo.sld.cu/scielo.hph?script=sciarttex&pid=S0864-34662018000200360&Ing=es
21.Wertz DC, Fletcher JC, Berg K, WHO Human Genetics Programme. Review of ethicalissues in medical genetics: report of consultants to WHO / D.C. Wertz, J.C. Fletcher, K.Berg. Geneva: World Health Organization; 2003 [acceso 10/05/2006]. Disponible en:https://apps.who.int/iris/handle/10665/68512.
22.Casal J, Mateu E. Tipos de muestreo. Rev Epidem Med Prev. 2003 [acceso10/02/2010];1:3-7. Disponible en:http://www.academia.edu/download/34046243/TiposMuestreo1.pdf
Oficina Nacional de Estadísticas de Cuba. Cifras preliminares. Censo de población yViviendas. La Habana: ONE; 2012. Disponible en:http://www.one.cu/publicaciones/cepde/cpv2012/20121212cifraspreliminares/cifraspreliminares %20completo.pdf
Gil GB, Pascual ED. La metodología Delphi como técnica de estudio de la validez decontenido. An Psic. 2012;28(3):1011-20. DOI: 10.6018/analesps.28.3.156211
Finley SL, Veach PM, MacFarlane IM, LeRoy BS, Callanan N. Genetic CounselingSupervisors' Self-Efficacy for Select Clinical Supervision Competencies. J Genet Couns. 2016 [acceso 31/05/2019];25(2):344-58. Disponible en:https://link.springer.com/article/10.1007/s10897-015-9865-1.
Madlensky L, Trepanier AM, Cragun D, Lerner B, Shannon KM, Zierhut H. A RapidSystematic Review of Outcomes Studies in Genetic Counseling. J Genet Couns. 2017[acceso 16/04/2019];26(3):361-78. Disponible en:https://link.springer.com/article/10.1007/s10897-017-0067-x
Fournier DM, Bazzell AF, Dains JE. Comparing Outcomes of Genetic CounselingOptions in Breast and Ovarian Cancer: An Integrative Review. Oncol Nurs Forum.2018;45(1):96-105. DOI: 10.1188/18.ONF.96-105
Amara N, Blouin-Bougie J, Jbilou J, Halilem N, Simard J, Landry R. The knowledgevalue-chain of genetic counseling for breast cancer: an empirical assessment of predictionand communication processes. Fam Cancer. 2016 [acceso 20/08/2019];15(1):1-17.Disponible en: https://link.springer.com/article/10.1007/s10689-015-9835-7.
Oficina Nacional de Estadística e Información de la República de Cuba (ONE). AnuarioEstadístico de Cuba 2011. La Habana: ONE; 2012. [acceso 20/08/2019]. Disponible en:http://www.one.cu/aec2011/esp/20080618 tabla cuadro.html.
Christianson A, Modell B. Medical genetics in developing countries. Annu RevGenomics Hum Genet. 2004 [acceso 10/03/2013];5:219-65. Disponible en:https://www.annualreviews.org/doi/abs/10.1146/annurev.genom.5.061903.175935.
Domínguez Alonso E, Zacca Peña E. Sistema de Salud de Cuba. Salud Publica Mex.2011 [acceso 02/01/2018];53(supl 2). Disponible en:http://saludpublica.mx/index.php/spm/article/view/5038/10029
Fraga D, Rojas I, Jiménez I, Martín M, García ME. Efectividad del AsesoramientoGenético y satisfacción de pacientes y familiares, municipio Abreus, provincia Cienfuegos:2004-2007. Rev Cubana Genet Comunit. 2010 [acceso 10/03/2013];4(3):43- 48. Disponibleen: https://www.medigraphic.com/cgi-bin/new/resumen.cgi?IDARTICULO=52111
Eissa M, Patel AA, Shehata F, Nashwa HB, Malak SA, Albatool MA, et al. Awarenessand Attitude of University Students About Screening and Testing for Hemoglobinopathies:Case Study of the Aseer Region, Saudi Arabia. Hemoglobin. 2018;42(4):264-68. DOI:10.1080/03630269.2018.1541802.
Critchley C, Nicol D, McWhirter R. Identifying public expectations of genetic biobanks.Public Underst Sci 2017;26(6):671-87. DOI: 10.1177/0963662515623925
Cooney C, Hercher L, Bajaj K. Genetic Counselors' Perception of the Effect on Practiceof Laws Restricting Abortion. J Genet Couns. 2017 [acceso 20/08/2019];26(5):1059-69.Disponible en: https://link.springer.com/article/10.1007/s10897-017-0083-x
Rojas I, González R, Padilla M, Martín M, Lavaut K, Fuentes E. Actitudes de individuosde la población cubana ante el aborto selectivo. Rev Cubana Genet Comunit. 2007 [acceso20/08/2019];1(2):15-20. Disponible en:http://www.convencionsalud2012.sld.cu/index.php/convencionsalud/2012/paper/viewFile/884/378.
Gran MA. Interrupción voluntaria de embarazo y anticoncepción. Dos métodos deregulación de la fecundidad. Cuba. 1995-2000. [Tesis para optar por el grado científico deDoctora en Ciencias de la Salud]. [La Habana]: ISCM- H; 2004. [acceso 20/08/2019]Disponible en: http://tesis.repo.sld.cu/72/1/GranAlvarez.pdf
Haga SB, Barry WT, Mills R, Ginsburg GS, Svetkey L, Sullivan J, Huntington FW.Public Knowledge of and Attitudes Toward Genetics and Genetic Testing. Genetic Testingand Molecular Biomarkers. 2013 [acceso 15/05/2019];17(4):327-35. Disponible en:https://www.liebertpub.com/doi/abs/10.1089/gtmb.2012.0350.