Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 4 de 4
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
J Genet Couns ; 28(2): 407-418, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30629780

RESUMO

Compared to European ancestral groups, Indigenous Canadians are more likely to have uninterpretable genome-wide sequencing results due to non-representation in reference databases. We began a conversation with Indigenous Canadians to raise awareness and give voice to this issue. We co-created a video explaining genomic non-representation that included diverse Indigenous view-points. We audio-recorded the focus groups including 30 First Nations, Métis, and Inuit individuals living in Greater Vancouver. After watching an introductory video explaining genomic testing, participants discussed issues surrounding collecting Indigenous genomic data, its control, and usage. Transcripts were analyzed, and participants' quotes representing main themes were incorporated into the introductory video. Indigenous participants discussed data interpretation and gave approval for quote usage. The 20 participants who provided feedback concurred with the thematic interpretation: Systemic racism interlaced most conversations, particularly within the theme of trust. Themes of governance emphasized privacy and fear of discrimination. Some participants thought a separate, Indigenous-controlled database was essential; others recognized advantages of international databases. The theme of implementation included creative ideas to collect Indigenous genomes, but prior approval from Indigenous leaders was emphasized. The final video (https://youtu.be/-wivIBDjoi8) was shared with participants to use as they wish to promote awareness and ongoing discussion of genomic diagnostic inequity.


Assuntos
Testes Genéticos , Disparidades em Assistência à Saúde/etnologia , Indígenas Norte-Americanos/etnologia , Povos Indígenas , Inuíte , Racismo/etnologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Canadá/etnologia , Feminino , Genômica , Serviços de Saúde do Indígena , Humanos , Masculino , Pessoa de Meia-Idade , Pesquisa Qualitativa , Adulto Jovem
2.
BMC Genomics ; 18(1): 403, 2017 05 24.
Artigo em Inglês | MEDLINE | ID: mdl-28539120

RESUMO

BACKGROUND: Intellectual Disability (ID) is among the most common global disorders, yet etiology is unknown in ~30% of patients despite clinical assessment. Whole genome sequencing (WGS) is able to interrogate the entire genome, providing potential to diagnose idiopathic patients. METHODS: We conducted WGS on eight children with idiopathic ID and brain structural defects, and their normal parents; carrying out an extensive data analyses, using standard and discovery approaches. RESULTS: We verified de novo pathogenic single nucleotide variants (SNV) in ARID1B c.1595delG and PHF6 c.820C > T, potentially causative de novo two base indels in SQSTM1 c.115_116delinsTA and UPF1 c.1576_1577delinsA, and de novo SNVs in CACNB3 c.1289G > A, and SPRY4 c.508 T > A, of uncertain significance. We report results from a large secondary control study of 2081 exomes probing the pathogenicity of the above genes. We analyzed structural variation by four different algorithms including de novo genome assembly. We confirmed a likely contributory 165 kb de novo heterozygous 1q43 microdeletion missed by clinical microarray. The de novo assembly resulted in unmasking hidden genome instability that was missed by standard re-alignment based algorithms. We also interrogated regulatory sequence variation for known and hypothesized ID genes and present useful strategies for WGS data analyses for non-coding variation. CONCLUSION: This study provides an extensive analysis of WGS in the context of ID, providing genetic and structural insights into ID and yielding diagnoses.


Assuntos
Deficiência Intelectual/genética , Sequenciamento Completo do Genoma , Criança , Genoma Humano/genética , Humanos , Mutação INDEL , Mutação de Sentido Incorreto , Polimorfismo de Nucleotídeo Único
3.
Am J Med Genet A ; 164A(6): 1496-502, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24706543

RESUMO

Little is currently known about how parents experience the medical genetics appointment at which their child receives a genetic diagnosis. We conducted semi-structured in-person interviews with 13 parents of 10 index children to explore their experience in the medical genetics appointment in which they received their child's genetic diagnosis. Guided by grounded theory, we used a constant comparative approach to data analysis. Transcribed interviews were coded and sorted, and thematic categories identified. Sixty-one and a half percent of parents experienced the diagnosis session as negative, 23% felt the experience was positive, and 15.5% were ambivalent. Receiving emotional support, an outline of the follow-up plans, and messages of hope and perspective during the session seemed to positively influence parents' experience, while feeling that their role was as a passive receiver of information and the use of difficult medical terminology negatively influenced parents' overall experience. Parental preparedness for the information, and the parents' emotional reaction to the diagnosis were also factors that influenced the parental experience. Few participants understood the role of the genetic counselor. Our results provide in-depth insight into the parental experience of the pediatric medical genetics diagnosis session. We propose a mechanism through which parental experience shapes their perception of the medical genetics session.


Assuntos
Aconselhamento Genético , Doenças Genéticas Inatas/diagnóstico , Pais/psicologia , Criança , Educação Infantil , Coleta de Dados , Feminino , Humanos , Masculino , Relações Médico-Paciente , Estudos Retrospectivos , Apoio Social , Inquéritos e Questionários
4.
Am J Med Genet A ; 149A(11): 2393-402, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19842198

RESUMO

Although new technologies such as array genomic hybridization to diagnosis the cause of intellectual disabilities (ID) are exciting to clinicians, the value of an etiological diagnosis to the families of affected children is largely unknown. Parents of 20 children with ID, 10 with and 10 without a causal or an etiological diagnosis were interviewed in depth about the value they place on such a diagnosis. They were asked about experiences acquiring services, use of support groups, interactions with family and friends, and opinions on prenatal diagnosis. Parents were also asked whether their child's diagnostic status had influenced these events or affected the couple's reproductive decisions. Finally, parents were asked whether their interest regarding the importance of an etiological diagnosis had changed over time. Interview transcripts were analyzed to determine values parents place on etiological diagnoses and comparisons were made between the two groups. These parents felt the need for a diagnosis most intensely when developmental concerns were first noted, and most parents agreed that this intensity diminished over time. All would have preferred to have an etiological diagnosis, but for some the only reason was curiosity. Validation was the most important value attributed to a diagnosis: it offered legitimacy for the child's behavior and appearance. However, a descriptive label, such as autism, was often more useful to parents than a rare but specific etiological diagnosis. Surprisingly, between the two groups there were no differences in the parents' perceptions or experiences related to the presence or absence of an etiological diagnosis for their child's ID.


Assuntos
Família , Deficiência Intelectual/diagnóstico , Pais , Percepção , Adulto , Criança , Comportamento Exploratório , Feminino , Humanos , Deficiência Intelectual/terapia , Masculino , Pessoa de Meia-Idade , Diagnóstico Pré-Natal , Reprodutibilidade dos Testes , Apoio Social
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...