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The utilization of genome-wide chromosomal microarray analysis (CMA) in pediatric clinical practice provides an opportunity to consider how genetic diagnostics is evolving, and to prepare for the clinical integration of genome-wide sequencing technologies. We conducted semi-structured interviews with 15 healthcare providers (7 genetic counselors, 4 medical geneticists, and 4 non-genetics providers) to investigate the impact of CMA on clinical practice, and implications for providers, patients and families. Interviews were analyzed qualitatively using content analysis. Most providers reported that genomic testing enhanced their professional experience and was beneficial to patients, primarily due to the improved diagnostic rate compared with earlier chromosomal studies. Other effects on practice included moving towards genotype-first diagnosis and broadening indications for chromosomal testing. Opinions varied concerning informed consent and disclosure of results. The duty to disclose incidental findings (IFs) was noted; however concerns were raised about potential psychosocial harms of disclosing pre-symptomatic findings. Tensions were revealed between the need for comprehensive informed consent for all families and the challenges of communicating time-consuming and potentially anxiety-provoking information regarding uncertain and incidental findings that may be relevant only in rare cases. Genetic counselors can play an important role in liaising with families, health professionals and testing laboratories, providing education and guidance to non-genetics providers, and enabling families to receive adequate pre-and post-test information and follow-up care.
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Testes Genéticos , Genoma Humano , Criança , Feminino , Humanos , Masculino , Pesquisa Qualitativa , IncertezaRESUMO
New technologies have given us the ability to detect genomic variation at resolutions 50-100 times greater than earlier tests. The good news is that we can now detect variations that help explain developmental delays, autism, or multiple congenital anomalies in up to 20% of children. The bad news is that we can also detect small missing or extra pieces of chromosomes that remain unexplained: that is, we don't know whether they have any clinical significance at all. The rapid pace of technological change may have outpaced the lab's ability to interpret, providers' abilities to explain, and patients' abilities to understand the test results. This Issue Brief summarizes a series of studies examining the uncertainties revolving around chromosomal microarray testing, which has become the new standard of practice in genetic testing of children with unexplained anomalies.
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Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Transtornos Cromossômicos/genética , Deficiências do Desenvolvimento/genética , Variação Genética/genética , Criança , Transtornos Cromossômicos/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Testes Genéticos , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Análise em MicrossériesRESUMO
Objective: To evaluate an eight-week Mindfulness-Based Stress Reduction (MBSR) program's impact on university students' mental health. Participants: Undergraduate and graduate students. Methods: Ninety participants completed pre-, mid-, and post-program surveys. Mindfulness, Satisfaction with Life, Psychological Distress, and Perceived Stress scores were analyzed using repeated measures ANOVA and pairwise comparisons. Additionally, 115 participants completed post-survey open-ended responses addressing their subjective experiences, which were thematically examined. Results: Participants showed significant improvements in all outcome measures from pre- to post- [p < 0.001] and mid- to post-program [p < 0.05]. All measures, except Satisfaction with Life, showed significant improvement from pre- to mid-program. Participants reported high program satisfaction. Facilitators of the participants' practice included program structure, perception of outcomes, and group setting; however, busy schedules posed a prominent barrier. Conclusion: This evaluation supports MBSR as a public health, group-based approach to improving students' mental health and building a more positive campus community.
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PURPOSE: The increased sensitivity of chromosomal microarray (CMA) technology as compared with traditional cytogenetic analysis allows for improved detection of genomic alterations. However, there is potential for uncertainty in the interpretation of test results in some cases. This paper explores how families understand and make meaning of CMA test results, and identifies the needs of families undergoing CMA testing. METHODS: We conducted semistructured interviews with parents of 25 pediatric outpatients with CMA test results indicating either a pathogenic alteration or a variant of unknown significance (VUS). Interviews were analyzed qualitatively. RESULTS: Three domains of understanding were identified: comprehension of results, interpretations of scientific uncertainty, and personal meaning for the child and family. Incomplete comprehension of test results and scientific uncertainty were prominent themes for families receiving results in both the VUS and pathogenic categories. Receiving results from non-geneticists and by telephone, long waits to see a geneticist, and misleading Internet searches all contributed to misunderstandings. CONCLUSION: Differentiating domains of understanding allows for the identification of uncertainties that can be reduced or managed in order to improve understanding of CMA results. Using this framework, we suggest interventions to promote clarity and address the informational needs of families undergoing CMA testing.
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Testes Genéticos/normas , Análise em Microsséries , Educação de Pacientes como Assunto , Incerteza , Cromossomos Humanos , Coleta de Dados , Aconselhamento Genético , Testes Genéticos/métodos , Humanos , Entrevistas como Assunto , Pacientes Ambulatoriais , Pais/psicologia , PediatriaRESUMO
The economic contribution of insect pollinators is evident as they contribute to higher crop yield quantity and quality. The management of bee species is key to crop production, especially where wild and domesticated bees are in low abundance. Several bee species have been identified as possible candidates for replacing, or at least supplementing, the decreasing number of honey bees. Our research seeks to address the location problem as regards nesting aids for Osmia cornuta bees in orchards using mathematical programming models for determining the optimal location of nesting aids and optimizing the management of solitary bees. A differential evolution algorithm is used to solve a location model of Osmia cornuta nesting aids for optimum pollination. Instead of a random ad hoc location of nesting aids in an orchard, or at the edge of an orchard, we utilize an effective optimization tool to determine locations which will optimize pollination by alternative pollinators, and increase the economic output of an agricultural business. The importance of this proposed model is likely to increase with agricultural intensification, and the decrease of the numbers of wild pollinators.
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Abelhas/fisiologia , Produtos Agrícolas/fisiologia , Animais , Modelos Teóricos , Comportamento de Nidação , Polinização , Dinâmica PopulacionalRESUMO
Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results influence parents' beliefs about etiology and prognosis. We conducted in-depth interviews and surveys with 57 parents of children with ASD who received CMA results categorized as pathogenic, negative or variant of uncertain significance. Parents tended to incorporate their child's CMA results within their existing beliefs about the etiology of ASD, regardless of CMA result. However, parents' expectations for the future tended to differ depending on results; those who received genetic confirmation for their children's ASD expressed a sense of concreteness, acceptance and permanence of the condition. Some parents expressed hope for future biomedical treatments as a result of genetic research.
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Atitude Frente a Saúde , Transtorno do Espectro Autista/psicologia , Cultura , Pais/psicologia , Transtorno do Espectro Autista/genética , Criança , Feminino , Genômica , Humanos , Masculino , Análise em Microsséries , Prognóstico , Pesquisa Qualitativa , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Microcosting is a cost estimation method that requires the collection of detailed data on resources utilized, and the unit costs of those resources in order to identify actual resource use and economic costs. Microcosting findings reflect the true costs to health care systems and to society, and are able to provide transparent and consistent estimates. Many economic evaluations in health and medicine use charges, prices, or payments as a proxy for cost. However, using charges, prices, or payments rather than the true costs of resources can result in inaccurate estimates. There is currently no existing checklist or guideline for the conduct, reporting, or appraisal of microcosting studies in health care interventions. OBJECTIVE: The aim of this study is to create a checklist and guideline for the conduct, reporting, and appraisal of microcosting studies in health care interventions. METHODS: Appropriate potential domains and items will be identified through (1) a systematic review of all published microcosting studies of health and medical interventions, strategies, and programs; (2) review of published checklists and guidelines for economic evaluations of health interventions, and selection of items relevant for microcosting studies; and (3) theoretical analysis of economic concepts relevant for microcosting. Item selection, formulation, and reduction will be conducted by the research team in order to develop an initial pool of items for evaluation by an expert panel comprising individuals with expertise in microcosting and economic evaluation of health interventions. A modified Delphi process will be conducted to achieve consensus on the checklist. A pilot test will be conducted on a selection of the articles selected for the previous systematic review of published microcosting studies. RESULTS: The project is currently in progress. CONCLUSIONS: Standardization of the methods used to conduct, report or appraise microcosting studies will enhance the consistency, transparency, and comparability of future microcosting studies. This will be the first checklist for microcosting studies to accomplish these goals and will be a timely and important contribution to the health economic and health policy literature. In addition to its usefulness to health economists and researchers, it will also benefit journal editors and decision-makers who require accurate cost estimates to deliver health care.
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PURPOSE: The aim of this study was to examine mothers' experiences with chromosomal microarray analysis (CMA) for a child with autism spectrum disorder (ASD). DESIGN AND METHODS: This is a descriptive qualitative study using thematic content analysis of in-depth interview with 48 mothers of children who had genetic testing for ASD. RESULTS: The principal theme, "something is missing," included missing knowledge about genetics, information on use of the results, explanations of the relevance to the diagnosis, and relevance to life-long care. Two subordinate themes were (a) disappreciation of the helpfulness of scientific information to explain the diagnosis, and (b) returning to personal experience for interpretation. PRACTICE IMPLICATIONS: The test "appreciated" in value when results could be linked to the phenotype.
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Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Aberrações Cromossômicas , Análise em Microsséries/métodos , Aceitação pelo Paciente de Cuidados de Saúde , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Avaliação como Assunto , Feminino , Humanos , Entrevistas como Assunto , Assistência de Longa Duração , Masculino , Pessoa de Meia-Idade , Relações Mãe-Filho , Mães/psicologia , Satisfação PessoalRESUMO
Clinical guidelines recommend chromosomal microarray analysis (CMA) for all children with autism spectrum disorders (ASDs). We explored the test's perceived usefulness among parents of children with ASD who had undergone CMA, and received a result categorized as pathogenic, variant of uncertain significance, or negative. Fifty-seven parents participated in a semi-structured telephone interview, and 50 also completed a survey. Most parents reported that CMA was helpful for their child and family. Major themes regarding perceived usefulness were: medical care, educational and behavioral interventions, causal explanation, information for family members, and advancing knowledge. Limits to utility, uncertainties and negative outcomes were also identified. Our findings highlight the importance of considering both health and non-health related utility in genomic testing.
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Transtorno do Espectro Autista/psicologia , Testes Genéticos , Pais/psicologia , Aceitação pelo Paciente de Cuidados de Saúde , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Análise em MicrossériesRESUMO
This ethnobotanical literature survey is part of an on-going study in New York City investigating Dominican and Chinese healing systems and the herbal treatments used for the following women's conditions: uterine fibroids (benign tumors of uterine smooth muscle); menorrhagia (excessive uterine bleeding); endometriosis (growth of endometrial tissue outside of the uterus); and hot flashes (sudden brief sensations of heat commonly experienced during menopause). The objectives of this survey were: (1) to search literature on medicinal plants used in the Dominican Republic and identify those used for the above listed conditions and their symptoms; (2) to compare the use between herbal treatments reported in the literature with those prescribed by Dominican healers in New York City; and (3) to evaluate the extent to which healers may have changed their use of plants in order to adapt to availability in the New York City environment. A total of 87 plant species were reported in the Dominican literature for these conditions and symptoms. Nineteen species overlapped from the literature survey and the fieldwork with Dominican healers in New York City, representing 29% (n=65) of the plants prescribed by healers in New York City. This study offers a model to investigate changes in plant use as people migrate to urban centers where they are surrounded by diverse cultures, healing systems, and new environments.
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Etnobotânica/métodos , Etnobotânica/tendências , Fitoterapia/métodos , Fitoterapia/tendências , Plantas Medicinais , Saúde da Mulher , Coleta de Dados/estatística & dados numéricos , República Dominicana/etnologia , Endometriose/tratamento farmacológico , Endometriose/etnologia , Feminino , Fogachos/tratamento farmacológico , Fogachos/etnologia , Humanos , Leiomioma/tratamento farmacológico , Leiomioma/etnologia , Menorragia/tratamento farmacológico , Menorragia/etnologia , Cidade de Nova Iorque/etnologia , Fitoterapia/estatística & dados numéricos , Estruturas VegetaisRESUMO
This article presents an argument for research on the practical outcomes of genetics education in professional nursing programs. Nurse educators should aggressively conduct educational outcomes research on the translation of genetics core competencies at all levels of clinical practice. There should be a systematic examination of the factors, that influence graduate nurses' applications of concepts to patient care including type of educational preparation in genetics. The best way to improve health is to understand normal genome biology and its relationship to disease biology. Assuring genetics and genomic literacy among all nurses is a crucial task for contemporary nursing education programs.
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Competência Clínica , Educação em Enfermagem/organização & administração , Genômica/educação , Humanos , Pesquisa em Educação em Enfermagem , Pesquisa em Avaliação de EnfermagemRESUMO
BACKGROUND: Intravaginal topical microbicides are being investigated for prevention of HIV transmission. Use of vaginal microbicides will constitute a new type of practice, occurring in the context of other vaginal practices related to contraception, hygiene, and self-care, which are affected by cultural norms and personal beliefs. Given the high rate of HIV infection among black women, research on practices and decision making relevant to microbicide acceptability is needed in this population. METHODS: Twenty-three black women in New York City, aged 25-64, completed in-person semistructured interviews and self-administered questionnaires. Quantitative analyses examined vaginal practices and willingness to use microbicides. Qualitative analyses explored underlying decision-making processes involved in choices regarding vaginal practices and general healthcare. RESULTS: Willingness to use vaginal products for HIV prevention was high, especially among more educated women. Safety was a major concern, and women were cautious about using vaginal products. Whereas some viewed synthetic products as having potentially harmful side effects, others perceived natural products as risky because of insufficient testing. Choices about vaginal practices were affected by assessments of risk and efficacy, prior experience, cultural background, and general approach to healthcare. CONCLUSIONS: The majority of women in the sample expressed willingness to use a vaginal product for HIV prevention. Decision-making processes regarding vaginal practices were complex and were affected by social, cultural, and personal factors. Although specific preferences may vary, attitudes toward using a vaginal product are likely to be positive when side effects are minimal and the product is considered safe.