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2.
PLoS One ; 15(7): e0235861, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32706774

RESUMO

BACKGROUND: To support the rising need for testing and to standardize tumor DNA sequencing practices within the U.S. Department of Veterans Affairs (VA)'s Veterans Health Administration (VHA), the National Precision Oncology Program (NPOP) was launched in 2016. We sought to assess oncologists' practices, concerns, and perceptions regarding Next-Generation Sequencing (NGS) and the NPOP. MATERIALS AND METHODS: Using a purposive total sampling approach, oncologists who had previously ordered NGS for at least one tumor sample through the NPOP were invited to participate in semi-structured interviews. Questions assessed the following: expectations for the NPOP, procedural requirements, applicability of testing results, and the summative utility of the NPOP. Interviews were assessed using an open coding approach. Thematic analysis was conducted to evaluate the completed codebook. Themes were defined deductively by reviewing the direct responses to interview questions as well as inductively by identifying emerging patterns of data. RESULTS: Of the 105 medical oncologists who were invited to participate, 20 (19%) were interviewed from 19 different VA medical centers in 14 states. Five recurrent themes were observed: (1) Educational Efforts Regarding Tumor DNA Sequencing Should be Undertaken, (2) Pathology Departments Share a Critical Role in Facilitating Test Completion, (3) Tumor DNA Sequencing via NGS Serves as the Most Comprehensive Testing Modality within Precision Oncology, (4) The Availability of the NPOP Has Expanded Options for Select Patients, and (5) The Completion of Tumor DNA Sequencing through the NPOP Could Help Improve Research Efforts within VHA Oncology Practices. CONCLUSION: Medical oncologists believe that the availability of tumor DNA sequencing through the NPOP could potentially lead to an improvement in outcomes for veterans with metastatic solid tumors. Efforts should be directed toward improving oncologists' understanding of sequencing, strengthening collaborative relationships between oncologists and pathologists, and assessing the role of comprehensive NGS panels within the battery of precision tests.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Sequenciamento de Nucleotídeos em Larga Escala/normas , Neoplasias/genética , Oncologistas/psicologia , Análise de Sequência de DNA/normas , United States Department of Veterans Affairs , Adulto , Detecção Precoce de Câncer/normas , Feminino , Testes Genéticos/normas , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/diagnóstico , Medicina de Precisão/normas , Planos Governamentais de Saúde , Inquéritos e Questionários , Estados Unidos
3.
Am J Hum Genet ; 107(1): 72-82, 2020 07 02.
Artigo em Inglês | MEDLINE | ID: mdl-32504544

RESUMO

Genetics researchers and clinical professionals rely on diversity measures such as race, ethnicity, and ancestry (REA) to stratify study participants and patients for a variety of applications in research and precision medicine. However, there are no comprehensive, widely accepted standards or guidelines for collecting and using such data in clinical genetics practice. Two NIH-funded research consortia, the Clinical Genome Resource (ClinGen) and Clinical Sequencing Evidence-generating Research (CSER), have partnered to address this issue and report how REA are currently collected, conceptualized, and used. Surveying clinical genetics professionals and researchers (n = 448), we found heterogeneity in the way REA are perceived, defined, and measured, with variation in the perceived importance of REA in both clinical and research settings. The majority of respondents (>55%) felt that REA are at least somewhat important for clinical variant interpretation, ordering genetic tests, and communicating results to patients. However, there was no consensus on the relevance of REA, including how each of these measures should be used in different scenarios and what information they can convey in the context of human genetics. A lack of common definitions and applications of REA across the precision medicine pipeline may contribute to inconsistencies in data collection, missing or inaccurate classifications, and misleading or inconclusive results. Thus, our findings support the need for standardization and harmonization of REA data collection and use in clinical genetics and precision health research.


Assuntos
Coleta de Dados/normas , Testes Genéticos/normas , Adulto , Criança , Grupos Étnicos , Feminino , Variação Genética/genética , Genômica/normas , Humanos , Masculino , Medicina de Precisão/normas , Inquéritos e Questionários
4.
JAMA Netw Open ; 3(4): e203812, 2020 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-32347949

RESUMO

Importance: Discordance in the interpretations of genetic test results has occurred with the increased number of laboratories that are performing testing. Differences in diagnostic interpretations may have implications for the treatment of patients. Objective: To assess the interlaboratory variation in the interpretations of genetic test results with potential therapeutic implications. Design, Setting, and Participants: In this cross-sectional study, 70 genes that are commonly tested in patients with epilepsy were examined to identify 22 676 genetic variants from an unknown number of patients using the ClinVar public database of clinically annotated variants. Variant annotations submitted to ClinVar (data set version 2019-05) between November 16, 2012, and May 3, 2019, were included in the analysis. Conflicting interpretations of the genetic variants associated with epilepsy were analyzed for clinically substantial discrepancies between May 7 and June 29, 2019. Variants were examined only if they had been interpreted by 2 or more clinical laboratories. A variant with a clinically substantial difference in interpretation was defined as a variant that crossed the threshold between a likely pathogenic variant and a variant of uncertain significance. Main Outcomes and Measures: The frequency and types of variant interpretation conflicts were analyzed when a conflict was identified. Results: A total of 6292 of 22 676 variants related to epilepsy (27.7%) were interpreted by 2 or more clinical laboratories. Many variants (3307 of 6292 [52.6%]) had interpretations that were fully concordant. However, 2985 variants (47.4%) had conflicting interpretations. A clinically substantial conflict was identified in 201 of 6292 variants (3.2%). Furthermore, 117 of 201 variants (58.2%) with differences in interpretation occurred in genes with therapeutic implications. Conclusions and Relevance: In this cross-sectional study, most interpretations of genetic variants associated with epilepsy were concordant among laboratories, but more than half of the variants with conflicting interpretations occurred in genes that have therapeutic implications. It would be helpful for genetic laboratories to report known diagnostic discordance with other clinical laboratories.


Assuntos
Epilepsia/genética , Testes Genéticos/normas , Variação Genética , Estudos Transversais , Bases de Dados Factuais , Humanos
5.
Med Sci (Paris) ; 36(3): 289-291, 2020 Mar.
Artigo em Francês | MEDLINE | ID: mdl-32228853

RESUMO

A new company is offering extensive genetic analysis of embryos during an in vitro fertilisation procedure, allowing the derivation of polygenic scores for several diseases and embryo choice based on these results. Polygenic scores, if properly implemented, can indeed have substantial predictive value, and the possibility of embryo choice based on these data has become real, raising a number of practical and ethical problems. ‡.


Assuntos
Pesquisas com Embriões/ética , Fertilização In Vitro/ética , Testes Genéticos/ética , Diagnóstico Pré-Implantação/ética , Diagnóstico Pré-Implantação/métodos , Comportamento de Escolha , Análise Mutacional de DNA/ética , Análise Mutacional de DNA/métodos , Fertilização In Vitro/métodos , Fertilização In Vitro/tendências , Engenharia Genética/ética , Testes Genéticos/métodos , Testes Genéticos/normas , Humanos , Herança Multifatorial/genética , Diagnóstico Pré-Implantação/normas , Projetos de Pesquisa
6.
Per Med ; 17(2): 129-140, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32154757

RESUMO

Aim: Direct-to-consumer (DTC) genetic tests (GT) have created controversy regarding their risks and benefits. In view of recent regulatory developments, this article aims to explore the attitudes of European clinical geneticists toward the oversight of DTC GT. Materials & methods: Fifteen semi-structured interviews were performed with clinical geneticists based in ten European countries. The transcripts were thematically analysized in an iterative process. Results & conclusion: Respondents strongly supported quality standards for DTC GT equal to those applied within the healthcare setting. Despite participants unanimously considering the involvement of healthcare professionals to be important, mandatory medical supervision was controversial. In this regard, promoting education and truth-in-advertising was considered as being key in maintaining a balance between protecting consumers and promoting their autonomy.


Assuntos
Triagem e Testes Direto ao Consumidor/legislação & jurisprudência , Triagem e Testes Direto ao Consumidor/normas , Europa (Continente) , Aconselhamento Genético/legislação & jurisprudência , Aconselhamento Genético/normas , Testes Genéticos/normas , Genômica , Humanos , Tutoria
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(3): 334-338, 2020 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-32128754

RESUMO

Pre-testing preparation is the basis and starting point of genetic testing. The process includes collection of clinical information, formulation of testing scheme, genetic counseling before testing, and completion of informed consent and testing authorization. To effectively identify genetic diseases in clinics can greatly improve the diagnostic rate of next generation sequencing (NGS), thereby reducing medical cost and improving clinical efficacy. The analysis of NGS results relies, to a large extent, on the understanding of genotype-phenotype correlations, therefore it is particularly important to collect and evaluate clinical phenotypes and describe them in uniform standard terms. Different types of genetic diseases or mutations may require specific testing techniques, which can yield twice the result with half the effort. Pre-testing genetic counseling can help patients and their families to understand the significance of relevant genetic testing, formulate individualized testing strategies, and lay a foundation for follow-up.


Assuntos
Doenças Genéticas Inatas/diagnóstico , Testes Genéticos/normas , Sequenciamento de Nucleotídeos em Larga Escala/normas , Consenso , Estudos de Associação Genética , Aconselhamento Genético , Humanos , Mutação
8.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(3): 339-344, 2020 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-32128755

RESUMO

With high accuracy and precision, next generation sequencing (NGS) has provided a powerful tool for clinical testing of genetic diseases. To follow a standardized experimental procedure is the prerequisite to obtain stable, reliable, and effective NGS data for the assistance of diagnosis and/or screening of genetic diseases. At a conference of genetic testing industry held in Shanghai, May 2019, physicians engaged in the diagnosis and treatment of genetic diseases, experts engaged in clinical laboratory testing of genetic diseases and experts from third-party genetic testing companies have fully discussed the standardization of NGS procedures for the testing of genetic diseases. Experts from different backgrounds have provided opinions for the operation and implementation of NGS testing procedures including sample collection, reception, preservation, library construction, sequencing and data quality control. Based on the discussion, a consensus on the standardization of the testing procedures in NGS laboratories is developed with the aim to standardize NGS testing and accelerate implementation of NGS in clinical settings across China.


Assuntos
Doenças Genéticas Inatas/diagnóstico , Testes Genéticos/normas , Sequenciamento de Nucleotídeos em Larga Escala/normas , China , Consenso , Humanos
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(3): 345-351, 2020 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-32128756

RESUMO

Bioinformatic analysis and variant classification are the key components of high-throughput sequencing-based genetic diagnostic approach. This consensus is part of the effort to develop a standardized process for next generation sequencing (NGS)-based test for germline mutations underlying Mendelian disorders in China. The flow-chart, common software, key parameters of bioinformatics pipeline for data processing, annotation, storage and variant classification are reviewed, which is aimed to help improving and maintaining a high-quality process and obtaining consistent outcomes for NGS-based molecular diagnosis.


Assuntos
Doenças Genéticas Inatas/diagnóstico , Testes Genéticos/normas , Sequenciamento de Nucleotídeos em Larga Escala/normas , China , Biologia Computacional , Consenso , Análise de Dados , Humanos , Software
10.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(3): 352-357, 2020 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-32128757

RESUMO

Clinical genetic testing results are compiled into a standardized report by genetic specialists and provided to clinicians and patients (Should the patient be intellectually disabled or under 18, the report will be provided to his/her parents or legal guardians). The content of genetic testing report should conform to relevant guidelines, industry standards and consensus. The decisions of clinicians will be made based on the report and clinical indications. Genetic counselors should provide post-test counseling to clinicians and patients or their authorized family members. A mechanism of follow-up visit after the genetic testing should be established with informed consent. Data should be shared by clinical institutions and genome sequencing institutions. As findings upon follow-up visit can help with further evaluation of the results, genome sequencing institutions should regularly re-analyze historical and follow-up data, and the updated results should be shared with clinical institutions. All activities involving reporting, genetic counselling, follow-up visiting, and re-analyzing should follow the relevant guidelines and regulations.


Assuntos
Aconselhamento Genético , Doenças Genéticas Inatas/diagnóstico , Testes Genéticos/normas , Sequenciamento de Nucleotídeos em Larga Escala/normas , Consenso , Humanos , Consentimento Livre e Esclarecido
11.
J Clin Neurosci ; 72: 238-243, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31889643

RESUMO

BACKGROUND: To ascertain the frequency, clinical spectrum and outcome of congenital myasthenic syndrome (CMS) patients who reported to the neuromuscular division of our quaternary medical center during the past ten years. METHODS: We performed a retrospective analysis of all the CMS patients who reported to us during the study period. RESULTS: Twenty-one patients of CMS attended our quaternary hospital over the past ten years. The median follow-up was 24 (IQR: 16.5-67.3) months. All the patients showed an overall improvement in the last follow up. The diagnosis of CMS could be genetically confirmed in seven cases. Four patients had COLQ mutation, two had CHRNε mutation and one had MUSK mutation. All the cases of COLQ mutation and one case of MUSK mutation had a limb-girdle (LG) presentation. Our study and review of literature imply that CMS should be suspected in cases of seronegative myasthenia gravis cases if the onset is at less than 20 years and strongly so if the onset is within the first two years of life. In addition, a positive family history, delayed motor milestones, and a poor response to immune-modulators should be actively sought for as indicators of CMS.


Assuntos
Testes Genéticos/estatística & dados numéricos , Síndromes Miastênicas Congênitas/genética , Acetilcolinesterase/genética , Pré-Escolar , Colágeno/genética , Feminino , Testes Genéticos/normas , Humanos , Índia , Lactente , Masculino , Proteínas Musculares/genética , Mutação , Síndromes Miastênicas Congênitas/epidemiologia , Síndromes Miastênicas Congênitas/patologia , Receptores Proteína Tirosina Quinases/genética , Receptores Colinérgicos/genética
13.
Int J Cancer ; 146(4): 1010-1017, 2020 02 15.
Artigo em Inglês | MEDLINE | ID: mdl-31286500

RESUMO

Over 10% of children with Wilms tumor (WT) have an underlying cancer predisposition syndrome (CPS). Cognizant of increasing demand for genetic evaluation and limited resources across health care settings, there is an urgent need to rationalize genetic referrals for this population. The McGill Interactive Pediatric OncoGenetic Guidelines study, a Canadian multi-institutional initiative, aims to develop an eHealth tool to assist physicians in identifying children at elevated risk of having a CPS. As part of this project, a decisional algorithm specific to WT consisting of five tumor-specific criteria (age <2 years, bilaterality/multifocality, stromal-predominant histology, nephrogenic rests, and overgrowth features) and universal criteria including features of family history suspicious for CPS and congenital anomalies, was developed. Application of the algorithm generates a binary recommendation-for or against genetic referral for CPS evaluation. To evaluate the algorithm's sensitivity for CPS identification, we retrospectively applied the tool in consecutive pediatric patients (n = 180) with WT, diagnosed and/or treated at The Hospital for Sick Children (1997-2016). Odds ratios were calculated to evaluate the strengths of associations between each criterion and specific CPS subtypes. Application of the algorithm identified 100% of children with WT and a confirmed CPS (n = 27). Age <2 years, bilaterality/multifocality, and congenital anomalies were strongly associated with pathogenic variants in WT1. Presence of >1 overgrowth feature was strongly associated with Beckwith-Wiedemann syndrome. Stromal-predominant histology did not contribute to CPS identification. We recommend the incorporation of the WT algorithm in the routine assessment of children with WT to facilitate prioritization of genetic referrals in a sustainable manner.


Assuntos
Sistemas de Apoio a Decisões Clínicas/normas , Testes Genéticos/normas , Neoplasias Renais/diagnóstico , Encaminhamento e Consulta/normas , Telemedicina/métodos , Tumor de Wilms/diagnóstico , Adolescente , Algoritmos , Canadá , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Neoplasias Renais/genética , Neoplasias Renais/patologia , Masculino , Guias de Prática Clínica como Assunto , Estudos Retrospectivos , Proteínas WT1/genética , Tumor de Wilms/genética , Tumor de Wilms/patologia
14.
Am J Med ; 133(1): 143-146.e2, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31207220

RESUMO

BACKGROUND: The purpose of this study was to evaluate the consistency of 3 commonly used direct-to-consumer genetic testing kits. Genetic testing kits are widely marketed by several companies but the consistency of their results is unclear. Because identical twins share the same DNA, their genetic testing results should provide insight into test consistency. METHODS: Forty-two identical twins (21 pairs) provided samples for 3 testing companies. Outcomes were concordance of ancestry results when twin pairs were tested by the same company and the same participant was tested by different companies. Concordance of 8 self-reported traits with 23andMe genetic analyses were also examined. RESULTS: Concordance of ancestry results when twin pairs were tested by the same company was high, with mean percentage agreement ranging from 94.5% to 99.2%. Concordance of ancestry results when participants were tested by 2 different companies was lower, with mean percentage agreement ranging from 52.7% to 84.1%. Concordance of trait results was variable, ranging from 34.1% for deep sleep and detached earlobes to 90.2% for cleft chin. CONCLUSION: The consistency of consumer genetic testing is high for ancestry results within companies but lower and more variable for ancestry results across companies and for specific traits. These results raise questions about the usefulness of such testing.


Assuntos
Triagem e Testes Direto ao Consumidor/normas , Grupo com Ancestrais do Continente Europeu/genética , Testes Genéticos/normas , Gêmeos Monozigóticos/genética , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
15.
Gastroenterology ; 158(2): 389-403, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31759928

RESUMO

Approximately 35% of patients with colorectal cancer (CRC) have a family history of the disease attributed to genetic factors, common exposures, or both. Some families with a history of CRC carry genetic variants that cause CRC with high or moderate penetrance, but these account for only 5% to 10% of CRC cases. Most families with a history of CRC and/or adenomas do not carry genetic variants associated with cancer syndromes; this is called common familial CRC. Our understanding of familial predisposition to CRC and cancer syndromes has increased rapidly due to advances in next-generation sequencing technologies. As a result, there has been a shift from genetic testing for specific inherited cancer syndromes based on clinical criteria alone, to simultaneous testing of multiple genes for cancer-associated variants. We summarize current knowledge of common familial CRC, provide an update on syndromes associated with CRC (including the nonpolyposis and polyposis types), and review current recommendations for CRC screening and surveillance. We also provide an approach to genetic evaluation and testing in clinical practice. Determination of CRC risk based on family cancer history and results of genetic testing can provide a personalized approach to cancer screening and prevention, with optimal use of colonoscopy to effectively decrease CRC incidence and mortality.


Assuntos
Neoplasias Colorretais/diagnóstico , Detecção Precoce de Câncer/normas , Predisposição Genética para Doença , Testes Genéticos/normas , Anamnese/normas , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Neoplasias Colorretais/prevenção & controle , Detecção Precoce de Câncer/métodos , Testes Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Guias de Prática Clínica como Assunto , Medicina de Precisão/métodos , Medicina de Precisão/normas , Medição de Risco/métodos , Medição de Risco/normas , Fatores de Risco
16.
Am J Surg ; 219(1): 145-149, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31255259

RESUMO

BACKGROUND: BRCA genetic testing is recommended by the National Comprehensive Cancer Network (NCCN) in breast cancer patients who meet specific criteria. Limited data are available on the likelihood of detecting a mutation when these guidelines are followed. METHODS: A retrospective chart review examined patients with breast cancer who underwent BRCA testing based on NCCN guidelines. RESULTS: Twelve (6.0%) of the 199 patients had a deleterious BRCA mutation. Family history of BRCA mutations (50%, p = 0.019), age ≤45 at diagnosis (9.7%, p = 0.034) and meeting ≥3 NCCN criteria (13.3%, p = 0.03) yielded the highest rates of BRCA mutation. Having a family history of BRCA mutation and age ≤45 were associated with increased rate of BRCA mutation on multivariate analysis (OR 14.3, CI 1.2-166.3; OR 11.6, CI 1.2-108.6). CONCLUSION: Select NCCN criteria are associated with higher rates of BRCA mutations. Waiting for genetic testing results to guide surgical management may be warranted in this subset of patients.


Assuntos
Neoplasias da Mama/genética , Genes BRCA1/fisiologia , Genes BRCA2/fisiologia , Mutação , Academias e Institutos , Adulto , Feminino , Testes Genéticos/normas , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Estados Unidos
17.
Genome Med ; 11(1): 85, 2019 12 20.
Artigo em Inglês | MEDLINE | ID: mdl-31862013

RESUMO

Variants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects of thousands of genomic variants are assessed simultaneously, are increasingly generating data that can be used as additional evidence for or against variant pathogenicity. Such assays have the potential to resolve variants of uncertain significance, thereby increasing the clinical utility of genomic testing. Existing standards from the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) and new guidelines from the Clinical Genome Resource (ClinGen) establish the role of functional data in variant interpretation, but do not address the specific challenges or advantages of using functional data derived from multiplexed assays. Here, we build on these existing guidelines to provide recommendations to experimentalists for the production and reporting of multiplexed functional data and to clinicians for the evaluation and use of such data. By following these recommendations, experimentalists can produce transparent, complete, and well-validated datasets that are primed for clinical uptake. Our recommendations to clinicians and diagnostic labs on how to evaluate the quality of multiplexed functional datasets, and how different datasets could be incorporated into the ACMG/AMP variant-interpretation framework, will hopefully clarify whether and how such data should be used. The recommendations that we provide are designed to enhance the quality and utility of multiplexed functional data, and to promote their judicious use.


Assuntos
Testes Genéticos/normas , Variação Genética , Biblioteca Gênica , Guias como Assunto , Humanos , Medicina de Precisão , Controle de Qualidade , Análise de Sequência de DNA , Sociedades Médicas
18.
Medicine (Baltimore) ; 98(52): e18521, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31876744

RESUMO

Genetic testing of children is faced with numerous problems. High-quality clinical practice guidelines (CPGs) are needed to ensure its safe, and appropriate use. This study aimed to systematically identify the current CPGs for genetic testing in children, and to assess the methodological quality of these CPGs.We searched 6 databases, 3 guideline clearinghouses, and 9 web sites of relevant academic agencies from inception to February 2019. CPGs focused on genetic testing in children were included. Four reviewers independently appraised the quality of the eligible CPGs using the appraisal of guidelines for research, and evaluation (AGREE) II instrument.Seventeen CPGs meeting our inclusion criteria were included. Among them, 16 CPGs were focused on the genetic diagnosis/evaluation of diseases, while only 1 CPG was focused on pharmacogenetics. The median domain scores from highest to lowest were: scope and purpose 80.56% (range: 56.95%-87.50%), clarity of presentation 72.22% (range: 45.83%-88.89%), stakeholder involvement 45.83% (range: 27.78%-55.56%), applicability 31.25% (range: 19.79%-54.17%), rigor of development 21.88%, (range: 13.02%-71.88%), and editorial independence 18.75% (range: 0%-83.33%). According to the overall quality, 6 (35%) CPGs were "not recommended," 8 (47%) CPGs were "recommended with modifications," and only 3 (18%) CPGs were "recommended." The clinical topics of the "recommended" CPGs were warfarin, familial Mediterranean fever, and pediatric pulmonary arterial hypertension.The quality of CPGs for genetic testing in children was generally low, and variable across different CPGs and different AGREE II domains. In future guideline development, more attention should be paid to the aspects of stakeholder involvement, rigor of development, applicability, and editorial independence. Not only will guideline users benefit from our results when determining whether to adopt related CPGs to guide genetic testing in children, but guideline developers could also take into account our results to improve the quality of future CPGs.


Assuntos
Testes Genéticos/normas , Guias de Prática Clínica como Assunto/normas , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Farmacogenética/normas
19.
BMC Health Serv Res ; 19(1): 844, 2019 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-31760949

RESUMO

BACKGROUND: Precision medicine is set to deliver a rich new data set of genomic information. However, the number of certified specialists in the United States is small, with only 4244 genetic counselors and 1302 clinical geneticists. We conducted a national survey of 264 medical professionals to evaluate how they interpret genetic test results, determine their confidence and self-efficacy of interpreting genetic test results with patients, and capture their opinions and experiences with direct-to-consumer genetic tests (DTC-GT). METHODS: Participants were grouped into two categories, genetic specialists (genetic counselors and clinical geneticists) and medical providers (primary care, internists, physicians assistants, advanced nurse practitioners, etc.). The survey (full instrument can be found in the Additional file 1) presented three genetic test report scenarios for interpretation: a genetic risk for diabetes, genomic sequencing for symptoms report implicating a potential HMN7B: distal hereditary motor neuropathy VIIB diagnosis, and a statin-induced myopathy risk. Participants were also asked about their opinions on DTC-GT results and rank their own perceived level of preparedness to review genetic test results with patients. RESULTS: The rates of correctly interpreting results were relatively high (74.4% for the providers compared to the specialist's 83.4%) and age, prior genetic test consultation experience, and level of trust assigned to the reports were associated with higher correct interpretation rates. The self-selected efficacy and the level of preparedness to consult on a patient's genetic results were higher for the specialists than the provider group. CONCLUSION: Specialists remain the best group to assist patients with DTC-GT, however, primary care providers may still provide accurate interpretation of test results when specialists are unavailable.


Assuntos
Competência Clínica/normas , Triagem e Testes Direto ao Consumidor/normas , Genética/normas , Pessoal de Saúde/normas , Autoeficácia , Adulto , Idoso , Idoso de 80 Anos ou mais , Conselheiros/normas , Feminino , Testes Genéticos/normas , Genômica/normas , Humanos , Masculino , Pessoa de Meia-Idade , Médicos/normas , Atenção Primária à Saúde , Encaminhamento e Consulta , Inquéritos e Questionários , Confiança , Estados Unidos , Adulto Jovem
20.
Pediatrics ; 144(6)2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31719124

RESUMO

The BabySeq Project is a study funded by the National Institutes of Health and aimed at exploring the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of both healthy newborns and newborns who are sick. Infants were randomly assigned to receive standard of care or standard of care plus sequencing. The protocol and consent specified that only childhood-onset conditions would be returned. When 1 child was found to carry a BRCA2 mutation despite a negative family history, the research team experienced moral distress about nondisclosure and sought institutional review board permission to disclose. The protocol was then modified to require participants to agree to receive results for adult-onset-only conditions as a precondition to study enrollment. The BabySeq team asserted that their new protocol was in the child's best interest because having one's parents alive and well provides both an individual child benefit and a "family benefit." We begin with a short description of BabySeq and the controversy regarding predictive genetic testing of children for adult-onset conditions. We then examine the ethical problems with (1) the revised BabySeq protocol and (2) the concept of family benefit as a justification for the return of adult-onset-only conditions. We reject family benefit as a moral reason to expand genomic sequencing of children beyond conditions that present in childhood. We also argue that researchers should design their pediatric studies to avoid, when possible, identifying adult-onset-only genetic variants and that parents should not be offered the return of this information if discovered unless relevant for the child's current or imminent health.


Assuntos
Testes Genéticos/ética , Triagem Neonatal/ética , Triagem Neonatal/psicologia , Pais/psicologia , Sequenciamento Completo do Exoma/ética , Testes Genéticos/normas , Humanos , Recém-Nascido , Triagem Neonatal/normas , Análise de Sequência de DNA/ética , Análise de Sequência de DNA/normas , Sequenciamento Completo do Exoma/normas
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