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2.
Am J Hum Genet ; 104(4): 578-595, 2019 04 04.
Artigo em Inglês | MEDLINE | ID: mdl-30951675

RESUMO

The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors.


Assuntos
Dever de Recontatar , Responsabilidade pela Informação/legislação & jurisprudência , Testes Genéticos/normas , Genética Médica/normas , Genômica/normas , Austrália , Canadá , Ética em Pesquisa , Europa (Continente) , Genética Médica/educação , Genética Médica/ética , Humanos , Responsabilidade Legal , Sujeitos da Pesquisa , Sociedades Médicas , Estados Unidos
5.
Am J Hum Genet ; 104(1): 6-7, 2019 01 03.
Artigo em Inglês | MEDLINE | ID: mdl-30609408

RESUMO

Protections against genetic discrimination advance genetics research and the clinical use of genetics, as well as ensure the ethical use of genetic data. Ten years after the passage of the Genetic Information Nondiscrimination Act (GINA), the American Society of Human Genetics remains a staunch advocate for GINA's strong implementation and for other laws that enhance protections for the public.


Assuntos
Genética Médica/ética , Genética Médica/legislação & jurisprudência , Saúde , Preconceito/legislação & jurisprudência , Preconceito/prevenção & controle , Justiça Social/legislação & jurisprudência , Privacidade Genética/ética , Privacidade Genética/legislação & jurisprudência , Humanos , Preconceito/ética
7.
Eur J Med Genet ; 62(5): 335-341, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30503854

RESUMO

In this paper, we present findings from a project involving 20 patients with rare diseases, or parents thereof, participating in the 100,000 genomes project (100 kG P). We explored their experiences of, and views about, the project, including why they took part, and their hopes and concerns about the future of genomic medicine. Patients who attended genetic clinics for testing were offered the opportunity to undergo the more extensive whole genome sequencing (WGS) if they agreed to take part in the 100 kG P. Once people had agreed, a specific additional appointment was organised for them. Taking part in the project therefore involved additional travel and appointments ('clinical labour'). We found that interviewees' decisions to participate in 100 kG P were based on interpersonal and institutional trust in the NHS, and on an investment in improving care for the future. Interviewees relied upon receiving good ongoing NHS care for managing their own or their child's rare disease, but they worried about what their relationships with NHS healthcare professionals would be like in future. A few participants worried about whether Genomics England's biorepository would remain protected and an asset of the NHS. To honour and foster participants' trust - which may easily be lost - and their clinical labour, we therefore recommend ongoing public engagement and consultation about how genomics is being integrated more widely across specialties (especially given current funding and staffing constraints in the NHS) within the newly formed NHS Genomic Medicine Service.


Assuntos
Genética Médica/métodos , Conhecimentos, Atitudes e Prática em Saúde , Doenças Raras/psicologia , Confiança , Sequenciamento Completo do Genoma , Genética Médica/ética , Humanos , Doenças Raras/genética , Reino Unido
8.
Monash Bioeth Rev ; 36(1-4): 23-35, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30593648

RESUMO

The ethical issues associated with germline gene modification and embryo research are some of the most contentious in current international science policy debates. In this paper, we argue that new genetic techniques, such as CRISPR, demonstrate that there is an urgent need for China to develop its own regulatory and ethical framework governing new developments in genetic and embryo research. While China has in place a regulatory framework, it needs to be strengthened to include better compliance oversight and explicit criteria for how different types of research should be reviewed by regulatory authorities. We also document a variety of opinions about the new technologies among the public, scholars, and policy makers. China needs to develop its own regulations in coordination with other countries; but it is unlikely that an international consensus will be achieved in this area, given the existing differences in regulations between countries. We should aim at harmonization, not necessarily complete consensus, and the perspective from China is vital when international norms are developed and harmonized. Chinese policy makers and researchers need to be aware of the international discussions, at the same time as the international community is aware of, and accommodates, Chinese positions on important policy options.


Assuntos
Edição de Genes/ética , Experimentação Humana/ética , Técnicas de Reprodução Assistida/ética , Genética Médica/ética , Humanos , Má Conduta Profissional/ética
9.
Eur J Hum Genet ; 26(12): 1721-1731, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30069064

RESUMO

The Global Alliance for Genomics and Health (GA4GH) proposes a data access policy model-"registered access"-to increase and improve access to data requiring an agreement to basic terms and conditions, such as the use of DNA sequence and health data in research. A registered access policy would enable a range of categories of users to gain access, starting with researchers and clinical care professionals. It would also facilitate general use and reuse of data but within the bounds of consent restrictions and other ethical obligations. In piloting registered access with the Scientific Demonstration data sharing projects of GA4GH, we provide additional ethics, policy and technical guidance to facilitate the implementation of this access model in an international setting.


Assuntos
Acesso à Informação , Genética Médica/normas , Genômica/normas , Disseminação de Informação , Genética Médica/ética , Genética Médica/legislação & jurisprudência , Genômica/ética , Genômica/legislação & jurisprudência , Humanos , Licenciamento , Guias de Prática Clínica como Assunto
10.
Br Med Bull ; 126(1): 37-45, 2018 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-29608656

RESUMO

Introduction: Physicians have long worried about gene patents' potential to restrict their medical practices. Fortune and hindsight have proven these worries exaggerated both in the UK and elsewhere. Neither current nor future medical practices appear to be impinged by gene patents, although they may be subject to future intellectual property disputes. Sources of data: Qualitative and quantitative (survey) studies of gene patents' effects on medical practice; recent developments in patent law. Areas of agreement: Traditional gene patents do not appear to have restricted medical practice in the UK, although their effect elsewhere has been more nuanced. Areas of controversy: Whether patents will restrict the spread of newer medical technologies is unresolved. Areas timely for developing research: Continuing survey data on practitioners' views concerning patents' role in the distribution of newer technologies would be beneficial.


Assuntos
Testes Genéticos/legislação & jurisprudência , Genética Médica/legislação & jurisprudência , Patentes como Assunto/legislação & jurisprudência , Técnicas Genéticas , Genética Médica/ética , Humanos , Licenciamento/ética , Patentes como Assunto/ética , Guias de Prática Clínica como Assunto
11.
Camb Q Healthc Ethics ; 27(2): 250-260, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29509117

RESUMO

Appeals to social justice that argue medicine and healthcare should have certain priorities and not others are common. It is an obvious question to ask: What does social justice demand of the new genetic technologies? However, it is important to note that there are many theories and sub-theories of justice. There are utilitarian theories, libertarian theories, and egalitarian theories. There are so-called luck egalitarians, equality-as-fairness thinkers, and capability theorists, with each having his or her own distinctive approach to the distribution of medical goods and technologies, and to healthcare priorities. This article argues that the discussion surrounding this question is potentially hampered by an implicit assumption that if one theory of justice is applicable in one context, then it must also be applicable in others. Instead, it is proposed that one adopt the stance, influenced by Michael Waltzer, that different theories with their opposing principles may be applicable to different questions regarding justice and genetics. The specific view advanced is that to answer questions about what justice requires regarding the therapeutic and enhancement use of genetic techniques, a method of reflective equilibrium can show how intuitions, in context, may support different theories of justice. When particular pre-theoretic ethical judgments are balanced against the theories that might explain or justify them, and are in accord with what seems emotionally acceptable, then it can be seen how different general theories may be applicable in the different contexts in which questions of justice and genetics arise.


Assuntos
Teoria Ética , Genética Médica/ética , Justiça Social/ética , Temas Bioéticos , Humanos
12.
Eur J Hum Genet ; 26(4): 450-470, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29326429

RESUMO

Technological developments in gene editing raise high expectations for clinical applications, including editing of the germline. The European Society of Human Reproduction and Embryology (ESHRE) and the European Society of Human Genetics (ESHG) together developed a Background document and Recommendations to inform and stimulate ongoing societal debates. This document provides the background to the Recommendations. Germline gene editing is currently not allowed in many countries. This makes clinical applications in these countries impossible now, even if germline gene editing would become safe and effective. What were the arguments behind this legislation, and are they still convincing? If a technique could help to avoid serious genetic disorders, in a safe and effective way, would this be a reason to reconsider earlier standpoints? This Background document summarizes the scientific developments and expectations regarding germline gene editing, legal regulations at the European level, and ethics for three different settings (basic research, preclinical research and clinical applications). In ethical terms, we argue that the deontological objections (e.g., gene editing goes against nature) do not seem convincing while consequentialist objections (e.g., safety for the children thus conceived and following generations) require research, not all of which is allowed in the current legal situation in European countries. Development of this Background document and Recommendations reflects the responsibility to help society understand and debate the full range of possible implications of the new technologies, and to contribute to regulations that are adapted to the dynamics of the field while taking account of ethical considerations and societal concerns.


Assuntos
Edição de Genes/métodos , Células Germinativas/metabolismo , Guias de Prática Clínica como Assunto , Diagnóstico Pré-Implantação/métodos , Técnicas de Reprodução Assistida/normas , Europa (Continente) , Edição de Genes/legislação & jurisprudência , Edição de Genes/normas , Genética Médica/ética , Genética Médica/legislação & jurisprudência , Genética Médica/normas , Humanos , Diagnóstico Pré-Implantação/normas , Técnicas de Reprodução Assistida/legislação & jurisprudência , Sociedades Médicas
13.
Am J Bioeth ; 18(12): 36-48, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-31159699

RESUMO

In 2012, a new and promising gene manipulation technique, CRISPR-Cas9, was announced that seems likely to be a foundational technique in health care and agriculture. However, patents have been granted. As with other technological developments, there are concerns of social justice regarding inequalities in access. Given the technologies' "foundational" nature and societal impact, it is vital for such concerns to be translated into workable recommendations for policymakers and legislators. Colin Farrelly has proposed a moral justification for the use of patents to speed up the arrival of technology by encouraging innovation and investment. While sympathetic to his argument, this article highlights a number of problems. By examining the role of patents in CRISPR and in two previous foundational technologies, we make some recommendations for realistic and workable guidelines for patenting and licensing.


Assuntos
Biotecnologia/legislação & jurisprudência , Sistemas CRISPR-Cas , Genética Médica/legislação & jurisprudência , Patentes como Assunto/legislação & jurisprudência , Biotecnologia/economia , Biotecnologia/ética , Edição de Genes , Pesquisa em Genética/legislação & jurisprudência , Genética Médica/economia , Genética Médica/ética , Política de Saúde/legislação & jurisprudência , Humanos , Licenciamento/legislação & jurisprudência , Patentes como Assunto/ética , Justiça Social
18.
Clin Genet ; 91(1): 137-140, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27392285

RESUMO

Genome wide sequencing is an emerging clinical tool that may provide information on genetic variants that are not directly related to the patient's primary disorder. These incidental findings (IFs) may include information about conditions that can be treated and may also indicate conditions for which treatments are not currently available. Data is currently limited regarding what IFs an individual would want to disclose. This study reports on 305 individual choices for return of IFs that were completed at the Medical College of Wisconsin's clinical sequencing laboratory. Individuals were given access to five categories of IFs to select from: no incidental findings, untreatable childhood disorders, treatable adulthood disorders, untreatable adulthood disorders, and carrier of a disorder. Retrospective chart review was conducted and individual choices were recorded and analyzed. The majority of individuals (76.1%) selected every IF to be reported, 14.4% wanted a subset of the options, and 9.5% did not want any IFs reported. This study contributes to the limited data that demonstrates what an individual would actually choose when undergoing genetic sequencing. Furthermore, this data supports the opinion that individuals want and utilize the ability to choose the findings reported.


Assuntos
Comportamento de Escolha/ética , Revelação/ética , Genoma Humano/genética , Achados Incidentais , Análise de Sequência de DNA/métodos , Adolescente , Adulto , Criança , Testes Genéticos/ética , Testes Genéticos/métodos , Genética Médica/ética , Genética Médica/métodos , Humanos , Estudos Retrospectivos
19.
J Hist Biol ; 50(2): 425-456, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-26892990

RESUMO

In the years following World War II, and increasingly during the 1960s and 1970s, professional scientific societies developed internal sub-committees to address the social implications of their scientific expertise (Moore, Disrupting Science: Social Movements, American Scientists, and the Politics of the Military, 1945-1975. Princeton: Princeton University Press, 2008). This article explores the early years of one such committee, the American Society of Human Genetics' "Social Issues Committee," founded in 1967. Although the committee's name might suggest it was founded to increase the ASHG's public and policy engagement, exploration of the committee's early years reveals a more complicated reality. Affronted by legislators' recent unwillingness to seek the expert advice of human geneticists before adopting widespread neonatal screening programs for phenylketonuria (PKU), and feeling pressed to establish their relevance in an increasingly resource-scarce funding environment, committee members sought to increase the discipline's expert authority. Painfully aware of controversy over abortion rights and haunted by the taint of the discipline's eugenic past, however, the committee proceeded with great caution. Seeking to harness interest in and assert professional control over emerging techniques of genetic diagnosis, the committee strove to protect the society's image by relegating ethical and policy questions about their use to the individual consciences of member scientists. It was not until 1973, after the committee's modest success in organizing support for a retrospective public health study of PKU screening and following the legalization of abortion on demand, that the committee decided to take a more publicly engaged stance.


Assuntos
Comitês Consultivos/história , Genética Médica/história , Sociedades Médicas/história , Sociologia Médica/história , Aborto Induzido/história , Genética Médica/ética , História do Século XX , Humanos , Recém-Nascido , Triagem Neonatal/história , Fenilcetonúrias/diagnóstico , Fenilcetonúrias/história , Política Pública/história , Sociologia Médica/ética , Estados Unidos
20.
In. Roblejo Balbuena, Hilda. Manual de normas y procedimientos. Servicios de genética médica en Cuba. La Habana, Editorial Ciencias Médicas, 2017. .
Monografia em Espanhol | CUMED | ID: cum-71529
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