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2.
Genet Med ; 21(10): 2371-2380, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30930462

RESUMO

PURPOSE: Recruitment of participants from diverse backgrounds is crucial to the generalizability of genetic research, but has proven challenging. We retrospectively evaluated recruitment methods used for a study on return of genetic results. METHODS: The costs of study design, development, and participant enrollment were calculated, and the characteristics of the participants enrolled through the seven recruitment methods were examined. RESULTS: A total of 1118 participants provided consent, a blood sample, and questionnaire data. The estimated cost across recruitment methods ranged from $579 to $1666 per participant and required a large recruitment team. Recruitment methods using flyers and staff networks were the most cost-efficient and resulted in the highest completion rate. Targeted sampling that emphasized the importance of Latino/a participation, utilization of translated materials, and in-person recruitments contributed to enrolling a demographically diverse sample. CONCLUSIONS: Although all methods were deployed in the same hospital or neighborhood and shared the same staff, each recruitment method was different in terms of cost and characteristics of the enrolled participants, suggesting the importance of carefully choosing the recruitment methods based on the desired composition of the final study sample. This analysis provides information about the effectiveness and cost of different methods to recruit adults for genetic research.

3.
Am J Hum Genet ; 101(4): 516-524, 2017 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-28942967

RESUMO

Exome sequencing has readily enabled the discovery of the genetic mutations responsible for a wide range of diseases. This success has been particularly remarkable in the severe epilepsies and other neurodevelopmental diseases for which rare, often de novo, mutations play a significant role in disease risk. Despite significant progress, the high genetic heterogeneity of these disorders often requires large sample sizes to identify a critical mass of individuals with disease-causing mutations in a single gene. By pooling genetic findings across multiple studies, we have identified six individuals with severe developmental delay (6/6), refractory seizures (5/6), and similar dysmorphic features (3/6), each harboring a de novo mutation in PPP3CA. PPP3CA encodes the alpha isoform of a subunit of calcineurin. Calcineurin encodes a calcium- and calmodulin-dependent serine/threonine protein phosphatase that plays a role in a wide range of biological processes, including being a key regulator of synaptic vesicle recycling at nerve terminals. Five individuals with de novo PPP3CA mutations were identified among 4,760 trio probands with neurodevelopmental diseases; this is highly unlikely to occur by chance (p = 1.2 × 10-8) given the size and mutability of the gene. Additionally, a sixth individual with a de novo mutation in PPP3CA was connected to this study through GeneMatcher. Based on these findings, we securely implicate PPP3CA in early-onset refractory epilepsy and further support the emerging role for synaptic dysregulation in epilepsy.


Assuntos
Calcineurina/genética , Epilepsia/genética , Mutação , Transtornos do Neurodesenvolvimento/genética , Transmissão Sináptica/fisiologia , Adolescente , Adulto , Calcineurina/metabolismo , Criança , Pré-Escolar , Estudos de Coortes , Epilepsia/patologia , Exoma/genética , Feminino , Humanos , Lactente , Recém-Nascido , Síndrome de Lennox Gastaut/patologia , Masculino , Transtornos do Neurodesenvolvimento/patologia , Análise de Sequência de DNA , Índice de Gravidade de Doença , Espasmos Infantis/genética , Espasmos Infantis/patologia , Adulto Jovem
4.
J Pediatr Adolesc Gynecol ; 29(2): 154-8, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26453829

RESUMO

STUDY OBJECTIVE: To examine the process and emotional effect of disclosing a personal diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) to peers during adolescence and young adulthood. DESIGN AND SETTING: Qualitative study using semistructured telephone interviews. PARTICIPANTS: Nine women diagnosed with MRKH, aged 21-31 years, recruited via patient support groups. INTERVENTIONS AND MAIN OUTCOME MEASURES: Motivators and barriers to self-disclosure of a diagnosis of MRKH to peers and partners. RESULTS: Motivators to tell peers about a diagnosis included significant trust in the relationship (whether platonic or romantic), needing to unload the experienced burden of diagnosis, and a sense of responsibility to be forthcoming if a long-term romantic future was desired. The most common barrier to telling others was fear of rejection or being labeled a "freak." Although most participants did not receive guidance from a health care provider regarding approaches to sharing diagnostic information with others, almost all participants reported wishing they had received such counseling. CONCLUSION: A diagnosis of MRKH elicits recurring anxieties about disclosure and the effect on relationships that are inadequately addressed by health care providers. Guidance and support on disclosure to friends and romantic partners should be provided whenever possible.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/psicologia , Anormalidades Congênitas/psicologia , Relações Interpessoais , Ductos Paramesonéfricos/anormalidades , Grupo Associado , Autorrevelação , Adulto , Comunicação , Medo , Feminino , Humanos , Pesquisa Qualitativa , Confiança , Adulto Jovem
5.
Cancer J ; 20(4): 246-53, 2014 Jul-Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25098283

RESUMO

After repeated media attention in 2013 due to the Angelina Jolie disclosure and the Supreme Court decision to ban gene patents, the demand for cancer genetic counseling and testing services has never been greater. Debate has arisen regarding who should provide such services and the quality of genetics services being offered. In this ongoing case series, we document 35 new cases from 7 states (California, Connecticut, Florida, Georgia, Missouri, Pennsylvania, and Utah) and the District of Columbia of adverse outcomes in cancer genetic testing when performed without the involvement of a certified genetic counselor. We identified 3 major themes of errors: wrong genetic tests ordered, genetic test results misinterpreted, and inadequate genetic counseling. Patient morbidity and mortality were an issue in several of these cases. The complexity of cancer genetic testing and counseling has grown exponentially with the advent of multigene panels that include rare genes and the potential for more variants of uncertain significance. We conclude that genetic counseling and testing should be offered by certified genetics providers to minimize the risks, maximize the benefits, and utilize health care dollars most efficiently.


Assuntos
Neoplasias/diagnóstico , Neoplasias/genética , Adulto , Idoso , Assistência à Saúde/economia , Assistência à Saúde/métodos , Feminino , Aconselhamento Genético/economia , Aconselhamento Genético/métodos , Testes Genéticos/economia , Testes Genéticos/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/economia , Medição de Risco/economia , Medição de Risco/métodos , Adulto Jovem
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