RESUMO
The COVID-19 pandemic created unprecedented challenges worldwide that required rapid adaptation and transformation across the entire healthcare system. Graduate medical training programs across all specialties have moved to rapidly adjust to the virtual landscape. This created a unique opportunity for genetic counselors who work in industry and within diagnostic laboratories to develop internship and rotation programs that can be offered virtually to meet the needs of genetic counseling training programs. Myriad Genetics, Inc., was contacted by numerous graduate programs in genetic counseling beginning in March 2020 requesting the opportunity for their students to participate in remote laboratory-based rotations. As a result of these requests, a working group of genetic counselors across Myriad came together to adapt existing experiences to fully remote formats and develop new remote-based opportunities for students. We describe our experience of expanding genetic counseling student rotations during the COVID-19 pandemic with the goal of providing examples of remote learning experiences that may be applicable to other diagnostic laboratory industry-based rotations for genetic counseling students. In 2020, a total of 59 second-year genetic counseling students, from 21 different genetic counseling training programs, participated in one of five different virtual experiences. Furthermore, two new rotation experiences were created to increase capacity and highlight diversity of industry roles. Genetic counselors in industry are uniquely positioned to provide both remote training opportunities for genetic counseling students and exposure to the variety of roles that genetic counselors can occupy. Increasing the exposure to these roles is important as the genetic counseling workforce continues to expand and diversify, and it is imperative among all programs to enable access to these opportunities.
Assuntos
COVID-19 , Educação a Distância , Aconselhamento Genético , Humanos , Pandemias , SARS-CoV-2 , EstudantesRESUMO
BACKGROUND: Large rearrangements in BRCA1 and BRCA2 occur in a small percentage (< 1%) of patients tested for hereditary breast (BC) and ovarian cancer. It is unclear what factors predict BRACAnalysis Large Rearrangement Test (BART) positivity. METHODS: Data from 6 centers were included in this analysis. Individuals with negative Comprehensive BRACAnalysis tested for BART were included. RESULTS: From 1300 individuals, 42 (3.2%) were BART positivity. Factors positively associated with BART positivity were Myriad score, first-degree relatives with BC, infiltrating BC with ductal carcinoma in situ, younger age at BC diagnosis, estrogen receptor-negative BC for both the first and second BC, and Latin American/Caribbean ethnicity. Presence of unilateral BC was inversely associated with BART positivity. Several analyses were performed on the variables available to find the model that best predicts for BART positivity. The BART predictive model, including first BC, ovarian cancer, primary maternal ancestry being Latin America/Caribbean, number of first-degree relatives with BC of 1 or more versus 0, and family history of prostate and pancreatic cancer, had good predictive ability with an area under the curve of 0.77. CONCLUSIONS: Several factors are significantly associated with BART positivity. Among them we have found that Latin American/Caribbean ancestry, Myriad score, first degree relatives with BC, younger age at BC diagnosis, estrogen receptor-negative status of BC, and infiltrating ductal carcinoma with ductal carcinoma in situ features are significantly associated with BART positivity. A BART predictive model may help in a clinical setting.
Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Proteínas de Transporte/genética , Éxons/genética , Deleção de Genes , Duplicação Gênica , Genes BRCA1 , Genes BRCA2 , Neoplasias Ovarianas/genética , Adenocarcinoma Mucinoso/genética , Adulto , Negro ou Afro-Americano/genética , Negro ou Afro-Americano/estatística & dados numéricos , Idoso , Idoso de 80 Anos ou mais , Área Sob a Curva , Biomarcadores Tumorais/análise , Neoplasias da Mama/etnologia , Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/genética , Carcinoma Intraductal não Infiltrante/genética , Carcinoma Lobular/genética , Região do Caribe/etnologia , Europa (Continente)/etnologia , Feminino , Predisposição Genética para Doença , Hispânico ou Latino/genética , Hispânico ou Latino/estatística & dados numéricos , Humanos , Judeus/genética , Judeus/estatística & dados numéricos , Pessoa de Meia-Idade , Mutação , Neoplasias Ovarianas/etnologia , Valor Preditivo dos Testes , Risco , Fatores de Transcrição , Estados Unidos , População Branca/genética , População Branca/estatística & dados numéricosRESUMO
BACKGROUND: Deletion of 15q21q22 is a rare chromosomal anomaly. To date, there have been nine reports describing ten individuals with different segmental losses involving 15q21 and 15q22. Many of these individuals have common features of growth retardation, hypotonia and moderate to severe mental retardation. Congenital heart disease has been described in three individuals with interstitial deletion involving this region of chromosome 15. CASE PRESENTATION: We report a child with coarctation of the aorta, partial agenesis of corpus callosum and mild to moderate developmental delay, with a de novo deletion of 15q21.1q22.2, detected by the array Comparative Genomic Hybridization (CGH). We utilized chromosome 15-specific microarray-based CGH to define the chromosomal breakpoints in this patient. CONCLUSION: This is the first description of mapping of an interstitial deletion involving the chromosome 15q21q22 segment using the chromosome 15-specific array-CGH. The report also expands the spectrum of clinical phenotype associated with 15q21q22 deletion.