RESUMEN
Clinical exome sequencing (CES) is becoming a standard tool for molecular diagnosis of genetic disorders, with a diagnostic yield of approximately 25%. New studies demonstrate the favourable diagnostic yield of CES for both early-onset and adult-onset neurogenetic disorders.These studies demonstrate the strengths, limitations and potential of CES in neurology practice.
Asunto(s)
Exoma , Pruebas Genéticas/métodos , Técnicas de Diagnóstico Molecular/métodos , Neurología/métodos , Análisis de Secuencia/métodos , Pruebas Genéticas/economía , Pruebas Genéticas/ética , Humanos , Técnicas de Diagnóstico Molecular/economía , Técnicas de Diagnóstico Molecular/ética , Enfermedades del Sistema Nervioso/diagnóstico , Enfermedades del Sistema Nervioso/genética , Neurología/economía , Neurología/ética , Análisis de Secuencia/economía , Análisis de Secuencia/éticaRESUMEN
BACKGROUND: Next Generation Sequencing (NGS) is expected to help find the elusive, causative genetic defects associated with Bipolar Disorder (BD). This article identifies the importance of NGS and further analyses the social and ethical implications of this approach when used in research projects studying BD, as well as other psychiatric ailments, with a view to ensuring the protection of research participants. METHODS: We performed a systematic review of studies through PubMed, followed by a manual search through the titles and abstracts of original articles, including the reviews, commentaries and letters published in the last five years and dealing with the ethical and social issues raised by NGS technologies and genomics studies of mental disorders, especially BD. A total of 217 studies contributed to identify the themes discussed herein. RESULTS: The amount of information generated by NGS renders individuals suffering from BD particularly vulnerable, and increases the need for educational support throughout the consent process, and, subsequently, of genetic counselling, when communicating individual research results and incidental findings to them. Our results highlight the importance and difficulty of respecting participants' autonomy while avoiding any therapeutic misconception. We also analysed the need for specific regulations on the use and communication of incidental findings, as well as the increasing influence of NGS in health care. CONCLUSIONS: Shared efforts on the part of researchers and their institutions, Research Ethics Boards as well as participants' representatives are needed to delineate a tailored consent process so as to better protect research participants. However, health care professionals involved in BD care and treatment need to first determine the scientific validity and clinical utility of NGS-generated findings, and thereafter their prevention and treatment significance.
Asunto(s)
Trastorno Bipolar/genética , Investigación Genética/ética , Consentimiento Informado/ética , Análisis de Secuencia/ética , Poblaciones Vulnerables , Formularios de Consentimiento , Toma de Decisiones/ética , Ética en Investigación , Asesoramiento Genético/ética , Humanos , Hallazgos Incidentales , Autonomía Personal , Sujetos de InvestigaciónRESUMEN
As we look to a time when whole-genome sequencing is integrated into patient care, it is possible to anticipate a number of ethical challenges that will need to be addressed. The most intractable of these concern informed consent and the responsible management of very large amounts of genetic information. Given the range of possible findings, it remains unclear to what extent it will be possible to obtain meaningful patient consent to genomic testing. Equally unclear is how clinicians will disseminate the enormous volume of genetic information produced by whole-genome sequencing. Toward developing practical strategies for managing these ethical challenges, we propose a research agenda that approaches multiplexed forms of clinical genetic testing as natural laboratories in which to develop best practices for managing the ethical complexities of genomic medicine.