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1.
Eur J Med Genet ; 62(5): 350-356, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30503855

RESUMO

Whole genome sequencing (WGS) is a transformative technology which promises improved diagnostic rates compared to conventional genetic testing strategies and tailored approaches to patient care. Due to the practical and ethical complexities associated with using WGS, particularly in the paediatric context, input from a broad spectrum of healthcare providers can guide implementation strategies. We recruited healthcare providers from the largest paediatric academic health science centre in Canada and conducted semi-structured qualitative interviews, exploring experiences with and perceptions of the opportunities and challenges associated with WGS. Interview transcripts were coded and analyzed thematically. Interviews were completed with 14 genetics professionals (geneticists and genetic counsellors) and 15 non-genetics professionals (physician sub-specialists and nurses). Genetics professionals ordered genetic tests more often and reported greater confidence on pre- and post-test genetic counselling compared to non-genetics professionals. Most healthcare providers endorsed WGS when a more specific test was either not available or not likely to yield a diagnosis. While genetics professionals raised concerns regarding the time demands associated with reviewing WGS variants, non-genetics professionals reflected concerns about knowledge and training. Providers' position on reporting secondary variants to parents drew upon but was not limited to the concept of best interests. Taken together, understanding practical and principled matters of WGS from healthcare providers' perspectives can guide ongoing efforts to implement WGS in paediatrics.


Assuntos
Atitude do Pessoal de Saúde , Testes Genéticos/métodos , Pessoal de Saúde/psicologia , Pediatria/métodos , Sequenciamento Completo do Genoma , Adulto , Feminino , Humanos , Masculino
2.
J Med Ethics ; 43(8): 535-539, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-27888232

RESUMO

OBJECTIVE: To better understand the consequences of returning whole genome sequencing (WGS) results in paediatrics and facilitate its evidence-based clinical implementation, we studied parents' experiences with WGS and their preferences for the return of adult-onset secondary variants (SVs)-medically actionable genomic variants unrelated to their child's current medical condition that predict adult-onset disease. METHODS: We conducted qualitative interviews with parents whose children were undergoing WGS as part of the SickKids Genome Clinic, a research project that studies the impact of clinical WGS on patients, families, and the healthcare system. Interviews probed parents' experience with and motivation for WGS as well as their preferences related to SVs. Interviews were analysed thematically. RESULTS: Of 83 invited, 23 parents from 18 families participated. These parents supported WGS as a diagnostic test, perceiving clear intrinsic and instrumental value. However, many parents were ambivalent about receiving SVs, conveying a sense of self-imposed obligation to take on the 'weight' of knowing their child's SVs, however unpleasant. Some parents chose to learn about adult-onset SVs for their child but not for themselves. CONCLUSIONS: Despite general enthusiasm for WGS as a diagnostic test, many parents felt a duty to learn adult-onset SVs. Analogous to 'inflicted insight', we call this phenomenon 'inflicted ought'. Importantly, not all parents of children undergoing WGS view the best interests of their child in relational terms, thereby challenging an underlying justification for current ACMG guidelines for reporting incidental secondary findings from whole exome and WGS.


Assuntos
Testes Genéticos , Conhecimentos, Atitudes e Prática em Saúde , Achados Incidentais , Obrigações Morais , Relações Pais-Filho , Pais , Sequenciamento Completo do Genoma , Adulto , Criança , Pré-Escolar , Comportamento de Escolha , Revelação , Feminino , Variação Genética , Genoma Humano , Genômica , Humanos , Lactente , Recém-Nascido , Masculino , Motivação , Pediatria , Pesquisa Qualitativa , Inquéritos e Questionários
3.
Clin Genet ; 87(4): 301-10, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25046648

RESUMO

The publication of the ACMG recommendations has reignited the debate over predictive testing for adult-onset disorders in minors. Response has been polarized. With this in mind, we review and critically analyze this debate. First, we identify long-standing inconsistencies between consensus guidelines and clinical practice regarding risk assessment for adult-onset genetic disorders in children using family history and molecular analysis. Second, we discuss the disparate assumptions regarding the nature of whole genome and exome sequencing underlying arguments of both supporters and critics, and the role these assumptions play in the arguments for and against reporting. Third, we suggest that implicit differences regarding the definition of best interests of the child underlie disparate conclusions as to the best interests of children in this context. We conclude by calling for clarity and consensus concerning the central foci of this debate.


Assuntos
Revelação/ética , Testes Genéticos/métodos , Guias como Assunto/normas , Achados Incidentais , Adulto , Idade de Início , Criança , Testes Genéticos/ética , Humanos , Menores de Idade , Valor Preditivo dos Testes , Análise de Sequência de DNA/métodos
4.
HEC Forum ; 26(2): 135-46, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24306818

RESUMO

The literature fails to reflect general agreement over the nature of the services and procedures provided by bioethicists, and the training and core competencies this work requires. If bioethicists are to define their activities in a consistent way, it makes sense to look for common ground in shared communities of practice. We report results of a survey of the services and procedures among bioethicists affiliated with the University of Toronto Joint Centre for Bioethics (JCB). This is the largest group of bioethicists working in healthcare organizations in Canada. The results suggest there are many common services and procedures of JCB bioethicists. This survey can serve as a baseline for further exploration of the work of JCB bioethicists. Common practices exist with respect to the domains of practice, individual reporting relationships, service availability within business hours and the education and training of the bioethicist.


Assuntos
Bioética , Eticistas/educação , Eticistas/normas , Consultoria Ética , Prática Profissional , Credenciamento , Humanos , Ontário , Inquéritos e Questionários
5.
Clin Pharmacol Ther ; 86(6): 587-9, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19915601

RESUMO

When considering expensive drug treatment for neonates and infants, how should we decide what we can and cannot afford? Accountably allocating health-care resources can be achieved using a framework that reflects the values a society considers so reflective of the collective will that they have been formally entrenched in law. The values and procedural mechanisms entrenched in the Canadian Charter of Rights and Freedoms are particularly helpful for those faced with these difficult spending decisions.


Assuntos
Custos de Medicamentos , Alocação de Recursos para a Atenção à Saúde/ética , Doenças do Recém-Nascido/tratamento farmacológico , Direitos do Paciente/ética , Seleção de Pacientes/ética , Valores Sociais , Canadá , Análise Custo-Benefício , Regulamentação Governamental , Alocação de Recursos para a Atenção à Saúde/legislação & jurisprudência , Política de Saúde , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/economia , Direitos do Paciente/legislação & jurisprudência , Preconceito , Resultado do Tratamento
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