Journal of Community Genetics

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Factors associated with adherence to BRCA1/2 mutation testing after oncogenetic counseling in long-surviving patients with a previous diagnosis of breast or ovarian cancer
Journal of Community Genetics - - Trang 1-8 - 2023
Silvia Actis, Marta D’Alonzo, Luca Pace, Serena Mucciacito, Valentina Elisabetta Bounous, Luca Giuseppe Sgrò, Matteo Mancarella, Annamaria Ferrero, Nicoletta Biglia
BRCA1/2 mutations account for 5 to 10% of breast and 15% of ovarian cancers. Various guidelines on BRCA1/2 genetic counseling and testing have been issued, and the criteria have evolved over the years. Oncogenetic counseling aims to inform patients about the possibility and implications of undergoing predictive testing and risk management programs. We analyzed a cohort of 50 subjects with a previo...... hiện toàn bộ
Co-creating a knowledge base in the “22q11.2 deletion syndrome” community
Journal of Community Genetics - - 2020
Roberta Rizzo, Marianne van den Bree, Aimée Challenger, Andrew D. Cuthbert, Michael Arribas Ayllon, Angus Clarke, Rose Thompson
Suggested components of the curriculum for nurses and midwives to enable them to develop essential knowledge and skills in genetics
Journal of Community Genetics - Tập 3 - Trang 323-329 - 2012
Heather Skirton, Sivia Barnoy, Yurdagul Erdem, Charlotta Ingvoldstad, Rebecka Pestoff, Fulya Teksen, Jessica Williams
Nurses and midwives need to develop specific knowledge and skills in genetics to enable them to offer appropriate healthcare in a range of non-specialist settings. Studies on the topic indicate that while nurses acknowledged the importance of genetics knowledge to their work, both their knowledge and confidence in using such information are poor. Despite the existence of competence frameworks, it ...... hiện toàn bộ
Upcoming special issues in the Journal of Community Genetics
Journal of Community Genetics - Tập 3 - Trang 55-55 - 2012
Jörg Schmidtke
Willingness of women to participate in obstetrical and pediatric research involving biobanks
Journal of Community Genetics - Tập 11 - Trang 215-223 - 2019
Renate D. Savich, Beth B Tigges, Lisbeth Iglesias Rios, Joanne McCloskey, Kristine Tollestrup, Robert D. Annett
Use of biobanks for future genetic/genomic testing has increased. Biospecimens are increasingly being collected from infants/children; however, little is known about attitudes towards collection of biospecimens from postpartum women and their child. Using a hypothetical consent, this study investigated willingness to participate and attitudes, beliefs, and concerns related to consent materials req...... hiện toàn bộ
Clinicians’ use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey
Journal of Community Genetics - - 2019
Anne Brédart, Jean–Luc Kop, Antonis C. Antoniou, Alex Cunningham, Antoine De Pauw, Marc Tischkowitz, Hans Ehrencrona, Marjanka K. Schmidt, Sylvie Dolbeault, Kerstin Rhiem, Douglas F. Easton, Peter Devilee, Dominique Stoppa‐Lyonnet, Rita Schmutlzer
Investigating the reasons for marriage among couples with thalassemia minor, in Iran
Journal of Community Genetics - Tập 12 - Trang 507-513 - 2021
Fatemeh Hasanshahi, Narges Khanjani
Thalassemia is one of the most prevalent genetic disorders in Iran. The birth of a child with thalassemia major is associated with many problems for the family, and society. In the present study, the reasons for marriage among people with thalassemia minor in Iran, in spite of receiving medical advice against it, have been investigated. The present study was a qualitative content analysis conducte...... hiện toàn bộ
Patient experiences in receiving telegenetics care for inherited cardiovascular diseases
Journal of Community Genetics - - Trang 1-9 - 2023
Dani S. Temares, Lusha W. Liang, Amanda L. Bergner, Muredach P. Reilly, Isha Kalia
Telegenetics played an important role in providing genetic services to patients during the COVID-19 pandemic. In particular, at our institution, it enabled us to expand our genetic counseling and testing services to non-local family members of patients outside of our prior catchment area. However, as telegenetics continues to be utilized even as social distancing is no longer required, further inf...... hiện toàn bộ
Knowledge, attitudes, and perceived barriers towards genetic testing across three rural Illinois communities
Journal of Community Genetics - Tập 10 - Trang 417-423 - 2019
A. J. Fogleman, W. E. Zahnd, A. E. Lipka, R. S. Malhi, S. Ganai, K. R. Delfino, W. D. Jenkins
Genetic testing is becoming more prevalent in detecting risk and guiding cancer treatment in our increasingly personalized medicine model. However, few studies have examined underserved populations’ perceptions of genetic testing, especially those of rural dwelling populations. We asked residents of three rural communities to complete a self-administered survey gauging their knowledge, attitudes, ...... hiện toàn bộ
Public interest in unexpected genomic findings: a survey study identifying aspects of sequencing attitudes that influence preferences
Journal of Community Genetics - Tập 13 - Trang 235-245 - 2022
Holly Etchegary, Daryl Pullman, Charlene Simmonds, Proton Rahman
We describe public preferences for unexpected genomic findings and explore predictors of preferences using an online survey in an Eastern Canadian province. Items measuring attitudes toward features of unexpected findings and genomic sequencing concerns were entered in logistic regression models predicting interest in unexpected findings. Very high levels of interest were observed in unexpected fi...... hiện toàn bộ
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