Journal of Community Genetics
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How obedience of marriage rules may counteract genetic drift
Journal of Community Genetics - Tập 1 - Trang 23-28 - 2010
Marriage rules are a common component of many human societies. Since these rules, translated into mating patterns, would imply inbreeding, the question arises as to their long-term population genetic effects. We show by simulation that continuous unilateral or bilateral cross-cousin mating, reflecting the most common form of prescribed marriage, increases homozygosity but at the same time slows do......
Comparing the attitudes of physicians and non-physicians toward communicating a patient’s BRCA1 mutation to a first-degree relative against a patient’s wishes
Journal of Community Genetics - Tập 13 - Trang 403-410 - 2022
Although genetic testing can be vastly informative, it creates a dilemma if a patient does not want to disclose an abnormal genetic test to at-risk relatives. A sample of 200 participants from Nevada (100 physicians, 100 non-physicians) completed an 11-item questionnaire asking demographic information, familiarity with genetics and genetic testing, and opinions about a physician’s role in a hypoth......
Characteristics predicting recommendation for familial breast cancer referral in a cohort of women from primary care
Journal of Community Genetics - Tập 11 - Trang 331-338 - 2020
Family history of breast and related cancers can indicate increased breast cancer (BC) risk. In national familial breast cancer (FBC) guidelines, the risk is stratified to guide referral decisions. We aimed to identify characteristics associated with the recommendation for referral in a large cohort of women undergoing FBC risk assessment in a recent primary care study. Demographic, family history......
Pakistani mothers’ and fathers’ experiences and understandings of the diagnosis of Down syndrome for their child
Journal of Community Genetics - Tập 6 - Trang 47-53 - 2014
Down syndrome (DS) is a relatively common chromosomal condition, which can be diagnosed prenatally. However, little is known about the diagnosis of the condition in developing countries. This qualitative study explored parents’ experiences of the diagnosis of DS in Pakistan. Fifteen mothers and fifteen fathers of children with DS had semi-structured interviews, which were analysed using thematic a......
Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape
Journal of Community Genetics - Tập 9 - Trang 117-132 - 2017
Despite the increasing availability of direct-to-consumer (DTC) genetic testing, it is currently unclear how such services are regulated in Europe, due to the lack of EU or national legislation specifically addressing this issue. In this article, we provide an overview of laws that could potentially impact the regulation of DTC genetic testing in 26 European countries, namely Austria, Belgium, Cyp......
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
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......
Impacts of personal DNA ancestry testing
Journal of Community Genetics - Tập 12 - Trang 37-52 - 2020
Consumer uptake of direct-to-consumer (DTC) DNA ancestry testing is accelerating, yet few empirical studies have examined test impacts on recipients despite the DTC ancestry industry being two decades old. Participants in a longitudinal cohort study of response to health-related DTC genomic testing also received personal DNA ancestry testing at no additional cost. Baseline survey data from the pri......
Co-creating a knowledge base in the “22q11.2 deletion syndrome” community
Journal of Community Genetics - - 2020
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
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 ......
Genetics and ethics: a possible and necessary dialogue
Journal of Community Genetics - Tập 6 - Trang 193-196 - 2015
Genetics and ethics have had numerous convergences and divergences over time. From Darwin through the Asilomar Conference and the Universal Declaration on the Human Genome and Human Rights, much has been achieved, but much still remains to be done. The use of biological materials that are already being stored and the adequacy of new technologies, such as clustered regularly interspaced short palin......
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