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1.
J Genet Couns ; 2023 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-37655513

RESUMO

Despite the increasing numbers of genetic assistants (GAs) in the genomics workforce, their training needs and how to best prepare GAs for their role have not been well defined. We sought to identify the current educational status of GAs, opinions on their training needs, and attitudes about GA training programs (GATPs). Survey links were emailed to NSGC members, 17 state genetic counseling (GC) professional organizations, and genomic medicine researchers. Respondents (n = 411) included GCs (n = 231) and GAs (n = 136). Like other studies, we found that the GA position is filled by a range of education levels and career aspirations. Most respondents supported the creation of GATPs, with 63% endorsing that GATPs would be helpful and half endorsing a short-term (3 months or less) program. Most believed GATPs should focus on general knowledge, with almost all practical skills learned on-the-job. If more GATPs are created, our survey provides evidence that graduates would be hired. Indeed, of those whose work setting required a bachelor's degree, the number of respondents who favored keeping that requirement was similar to the number who favored hiring a GA without a degree if they attended a GATP. However, there were concerns about GATPs. Many (44%) believed creating GATPs could discourage candidates from becoming GAs. We observed that there are two types of GAs: entry-level and bachelor's-level, with the entry-level being those who do not have and are not working to obtain a bachelor's degree and the bachelor's-level being those who do/are. GATPs could focus on the education of entry-level GAs, while gaps in the knowledge base of bachelor's-level GAs could be addressed by augmenting bachelor's curriculum or providing additional training after hire. Further research on the training needs of GAs and hiring practices of institutions will be vital to understanding their training needs and designing and implementing effective GATPs.

2.
Birth Defects Res A Clin Mol Teratol ; 97(8): 554-63, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23913417

RESUMO

BACKGROUND: Twinning is a risk factor for birth defects. Using population-based data from the Utah Birth Defect Network and the Utah Department of Health Vital Records, we investigated whether twinning increases the risk of major structural birth defects in live-born opposite-sex (OS) and same-sex (SS) twins as proxies for monozygotic and dizygotic twins, respectively. We also assessed whether maternal age modified the association between twinning and birth defects. METHODS: All resident live-born singleton (n = 492,143) and twin (n = 13,596) infants issued a Utah birth certificate and delivered from 1999 through 2008 were included. Unadjusted and adjusted odds ratios (aORs) with 95% confidence intervals were calculated for each birth defect using unconditional logistic regression. RESULTS: Birth defects were slightly more likely to occur in SS (aOR = 1.94; 95% confidence interval, 1.70-2.21) than OS (aOR = 1.55; 95% confidence interval, 1.27-1.90) twins. The aORs stratified by maternal age did not show a trend for any twin type when calculated for all birth defects combined. However, trends were observed for coarctation, pyloric stenosis, and shaft or penoscrotal hypospadias in OS twins; microcephaly, anotia/microtia, conotruncal defects, membranous ventricular septal defects, pyloric stenosis, all hypospadias, and craniosynostosis in SS twins; and tetralogy of Fallot, right ventricular outflow tract obstructions, renal agenesis/hypoplasia, and craniosynostosis in all twins. CONCLUSION: All twin types have an increased risk for birth defects compared with singletons. SS twins have the highest risk, presumably due to the influence of monozygotic twins. The risk for birth defects in twins was not significantly modified by the mother's age.


Assuntos
Anormalidades Congênitas/epidemiologia , Gêmeos Dizigóticos , Gêmeos Monozigóticos , Adolescente , Adulto , Feminino , Humanos , Masculino , Idade Materna , Pessoa de Meia-Idade , Gravidez , Risco , Fatores de Risco , Utah/epidemiologia , Adulto Jovem
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