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1.
Genet Med ; 20(12): 1635-1643, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-29790872

RESUMO

PURPOSE: Clinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability. METHODS: Exome/genome sequencing and analysis of 789 "unaffected" parents was performed. RESULTS: Pathogenic/likely pathogenic variants were identified in 21 genes within 25 individuals (3.2%), with 11 (1.4%) participants harboring variation in a gene defined as clinically actionable by the American College of Medical Genetics and Genomics. These 25 individuals self-reported either relevant clinical diagnoses (5); relevant family history or symptoms (13); or no relevant family history, symptoms, or clinical diagnoses (7). A limited carrier screen was performed yielding 15 variants in 48 (6.1%) parents. Parents were also analyzed as mate pairs (n = 365) to identify cases in which both parents were carriers for the same recessive disease, yielding three such cases (0.8%), two of which had children with the relevant recessive disease. Four participants had two findings (one carrier and one noncarrier variant). In total, 71 of the 789 enrolled parents (9.0%) received secondary findings. CONCLUSION: We provide an overview of the rates and types of clinically relevant secondary findings, which may be useful in the design and implementation of research and clinical sequencing efforts to identify such findings.


Assuntos
Sequenciamento do Exoma , Exoma/genética , Doenças Genéticas Inatas/genética , Testes Genéticos , Adulto , Mapeamento Cromossômico , Feminino , Triagem de Portadores Genéticos , Doenças Genéticas Inatas/classificação , Doenças Genéticas Inatas/fisiopatologia , Variação Genética , Genoma Humano/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Pais , Sequenciamento Completo do Genoma
2.
Community Ment Health J ; 54(1): 17-26, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28364300

RESUMO

Fragmentation in behavioral and mental health care to children has resulted in suboptimal care and high rates of psychotropic medication use, especially antipsychotic medications (APM). A qualitative study, based on the Theory of Planned Behavior (TPB), aimed to better understand prescribing practices, barriers to optimal treatment, and potential interventions to safeguard the use of APM for children in Kentucky. The most common barrier to optimal care was access to mental health specialists. Social norms and pressure from families contribute to increased medication use. We identify promising interventions to safeguard the use of APM through the lens of the TPB.


Assuntos
Antipsicóticos/uso terapêutico , Atitude do Pessoal de Saúde , Fatores Etários , Criança , Psiquiatria Infantil , Pré-Escolar , Humanos , Entrevistas como Assunto , Kentucky , Transtornos Mentais/tratamento farmacológico , Padrões de Prática Médica , Pesquisa Qualitativa
3.
Genet Med ; 19(3): 337-344, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-27561086

RESUMO

PURPOSE: Eliciting and understanding patient and research participant preferences regarding return of secondary test results are key aspects of genomic medicine. A valid instrument should be easily understood without extensive pretest counseling while still faithfully eliciting patients' preferences. METHODS: We conducted focus groups with 110 adults to understand patient perspectives on secondary genomic findings and the role that preferences should play. We then developed and refined a draft instrument and used it to elicit preferences from parents participating in a genomic sequencing study in children with intellectual disabilities. RESULTS: Patients preferred filtering of secondary genomic results to avoid information overload and to avoid learning what the future holds, among other reasons. Patients preferred to make autonomous choices about which categories of results to receive and to have their choices applied automatically before results are returned to them and their clinicians. The Preferences Instrument for Genomic Secondary Results (PIGSR) is designed to be completed by patients or research participants without assistance and to guide bioinformatic analysis of genomic raw data. Most participants wanted to receive all secondary results, but a significant minority indicated other preferences. CONCLUSIONS: Our novel instrument-PIGSR-should be useful in a wide variety of clinical and research settings.Genet Med 19 3, 337-344.


Assuntos
Testes Genéticos/métodos , Adulto , Idoso , Comportamento de Escolha , Compreensão , Feminino , Grupos Focais , Testes Genéticos/ética , Testes Genéticos/instrumentação , Genoma/ética , Genoma/genética , Genômica/ética , Genômica/métodos , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Achados Incidentais , Deficiência Intelectual/genética , Masculino , Pessoa de Meia-Idade , Pais/psicologia , Preferência do Paciente/psicologia , Análise de Sequência de DNA , Inquéritos e Questionários
4.
J Eval Clin Pract ; 2024 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-39072946

RESUMO

PURPOSE: Understanding drivers of antibiotic use is key to limiting the development of antimicrobial resistance. Outpatient antibiotic prescribing rates vary substantially across and within states. Kentucky is one of the highest prescribing states, and the southeastern region has rates that are drastically higher than the national average and urban areas of the state. We sought to examine provider perceptions of antibiotic use in this rural area to more effectively guide future interventions and policy. METHODS: This study utilized Medicaid prescription claims to identify providers who frequently prescribe antibiotics to children in southeastern Kentucky. Semistructured qualitative interviews were conducted to elicit provider perspectives on antibiotic overuse. FINDINGS: Individual, in-person interviews were conducted with 25 providers from a variety of practices and training backgrounds (private, nonprofit, retail, physician, advanced practice registered nurses, etc.). The following themes emerged as issues that prescribers consider to contribute to antibiotic overuse: (1) caregiver pressure, especially from grandparents or families who desire a 'quick fix'; (2) business concerns and competition and (3) cultural factors related to poverty and rural locations. Interviewed providers were supportive of public education and had mixed views on the effectiveness of delayed fill or provider feedback initiatives. CONCLUSIONS: This study highlights unique challenges associated with antibiotic prescribing in rural areas. Findings will guide future interventions through adaptation of existing strategies to better serve this vulnerable population.

5.
Ethics Hum Res ; 46(1): 43-48, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38240400

RESUMO

Translational research has tended to ignore the question of whether receiving a genomic diagnosis provides utility in community care contexts outside of doctors' offices and hospitals. However, empirical research with parents has highlighted numerous ways that a genomic diagnosis might be of practical value in the care provided by teachers, physical or occupational therapists, speech-language pathologists, behavior analysts, and nonphysician mental health providers. In this essay, we propose a new conceptual model of genomic utility that offers the opportunity to better capture a broad range of potential implications of genomic technologies for families in various social and organizational systems. We explore crucial research directions to better understand how redefined utility might affect families and nonphysician professionals.


Assuntos
Transtornos da Comunicação , Saúde Mental , Humanos , Pais , Genômica
6.
J Pers Med ; 13(7)2023 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-37511639

RESUMO

BACKGROUND: It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents' experiences with GS as a first-line diagnostic tool for infants with suspected genetic conditions in the NICU. METHODS: Parents of newborns (N = 62) suspected of having a genetic condition were recruited across five hospitals in the southeast United States as part of the SouthSeq study. Semi-structured interviews (N = 78) were conducted after parents received their child's sequencing result (positive, negative, or variants of unknown significance). Thematic analysis was performed on all interviews. RESULTS: Key themes included that (1) GS in infancy is important for reproductive decision making, preparing for the child's future care, ending the diagnostic odyssey, and sharing results with care providers; (2) the timing of disclosure was acceptable for most parents, although many reported the NICU environment was overwhelming; and (3) parents deny that receiving GS results during infancy exacerbated parent-infant bonding, and reported variable impact on their feelings of guilt. CONCLUSION: Parents reported that GS during the neonatal period was useful because it provided a "backbone" for their child's care. Parents did not consistently endorse negative impacts like interference with parent-infant bonding.

7.
Genome Med ; 9(1): 43, 2017 05 30.
Artigo em Inglês | MEDLINE | ID: mdl-28554332

RESUMO

BACKGROUND: Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios. METHODS: Whole-exome sequences (WES) were generated for 365 individuals (127 affected) and whole-genome sequences (WGS) were generated for 612 individuals (244 affected). RESULTS: Pathogenic or likely pathogenic variants were found in 100 individuals (27%), with variants of uncertain significance in an additional 42 (11.3%). We found that a family history of neurological disease, especially the presence of an affected first-degree relative, reduces the pathogenic/likely pathogenic variant identification rate, reflecting both the disease relevance and ease of interpretation of de novo variants. We also found that improvements to genetic knowledge facilitated interpretation changes in many cases. Through systematic reanalyses, we have thus far reclassified 15 variants, with 11.3% of families who initially were found to harbor a VUS and 4.7% of families with a negative result eventually found to harbor a pathogenic or likely pathogenic variant. To further such progress, the data described here are being shared through ClinVar, GeneMatcher, and dbGaP. CONCLUSIONS: Our data strongly support the value of large-scale sequencing, especially WGS within proband-parent trios, as both an effective first-choice diagnostic tool and means to advance clinical and research progress related to pediatric neurological disease.


Assuntos
Variações do Número de Cópias de DNA , Deficiências do Desenvolvimento/genética , Genômica/métodos , Deficiência Intelectual/genética , Mutação , Análise de Sequência de DNA/métodos , Adolescente , Adulto , Criança , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Exoma , Feminino , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Masculino , Adulto Jovem
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