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Journal of Community Genetics

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https://www.readbyqxmd.com/read/29308542/experience-of-asian-males-communicating-cardiac-genetic-risk-within-the-family
#1
Sylvia Kam, Yasmin Bylstra, Laura Forrest, Ivan Macciocca, Roger Foo
The genetic nature of an inherited cardiac condition (ICC) places first- and second-degree relatives at risk of cardiac complications and sudden death, even in the absence of symptoms. Communication of cardiac genetic risk information allows at-risk relatives to clarify, manage, and potentially prevent ICC-associated risks through cardiac screening. Literature regarding family communication of genetic risk information are predominantly based on Western populations, with limited insight into the Asian experience...
January 8, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29294252/correction-to-behavioural-changes-sharing-behaviour-and-psychological-responses-after-receiving-direct-to-consumer-genetic-test-results-a-systematic-review-and-meta-analysis
#2
Kelly F J Stewart, Anke Wesselius, Maartje A C Schreurs, Annemie M W J Schols, Maurice P Zeegers
The published online version contains mistake in the Abstract section. The percentages for 'any positive lifestyle change' and 'improved dietary practices' have unintentionally been incorrectly reported.
January 2, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29280052/patient-and-provider-perspectives-on-the-development-of-personalized-medicine-a-mixed-methods-approach
#3
Lauren Puryear, Natalie Downs, Andrea Nevedal, Eleanor T Lewis, Kelly E Ormond, Maria Bregendahl, Carlos J Suarez, Sean P David, Steven Charlap, Isabella Chu, Steven M Asch, Neda Pakdaman, Sang-Ick Chang, Mark R Cullen, Latha Palaniappan
While genetic testing gains adoption in specialty services such as oncology, neurology, and cardiology, use of genetic and genomic testing has yet to be adopted as widely in primary care. The purpose of this study is to identify and compare patient and primary care provider (PCP) expectations of genetics services in primary care. Patient and PCP perspectives were assessed through a mixed-method approach combining an online survey and semi-structured interviews in a primary care department of a large academic medical institution...
December 27, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29238908/thalassemia-a-prevalent-disease-yet-unknown-term-among-college-students-in-saudi-arabia
#4
Duaa Ibrahim Olwi, Leena Adnan Merdad, Eman Kamal Ramadan
Thalassemia is a life-threatening blood disorder that has a high prevalence in Saudi Arabia despite the implementation of mandatory premarital testing and the availability of genetic counseling. This study aimed to assess college students' knowledge of thalassemia. A cross-sectional survey of a random sample of 920 senior students enrolled at King Abdulaziz University was conducted. A self-administered questionnaire was used to collect information about thalassemia and socio-demographic characteristics. Of the 920 students, 445 (48%) had ever heard of thalassemia...
December 14, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29197036/cancer-genetic-counseling-communication-with-low-income-chinese-immigrants
#5
Janice Ka Yan Cheng, Claudia Guerra, Rena J Pasick, Dean Schillinger, Judith Luce, Galen Joseph
As genetics and genomics become part of mainstream medicine, these advances have the potential to either reduce or exacerbate health disparities. Relatively, little research has explored the quality of genetic counseling communication experienced by limited English proficiency patients, especially Chinese Americans. We observed and audio recorded genetic counseling appointments (n = 40) of low-income, limited English-proficient Chinese patients (n = 25) and conducted post-visit interviews (n = 17) using stimulated recall to examine patient understanding of the communication...
December 1, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29170972/the-accessibility-and-utilization-of-genetic-testing-for-inherited-heart-rhythm-disorders-a-canadian-cross-sectional-survey-study
#6
Thomas M Roston, Laura Dewar, Sonia Franciosi, Julie Hathaway, Kirsten Bartels, Taylor Cunningham, Karen A Gibbs, Sam Sheps, Zachary W M Laksman, Shubhayan Sanatani, Andrew D Krahn
The genetic basis of many sudden death-related conditions has been elucidated. These include inherited arrhythmias and arrhythmogenic cardiomyopathies, termed inherited heart rhythm disorders (IHRD). Advising on and interpreting genetic testing is challenging for the general cardiologist. This has led to the development of interdisciplinary clinics for IHRD in varying stages of establishment in Canada. We sought the viewpoints and patterns of practice of Canadian IHRD experts, and assessed their ability to access genetic testing for IHRD using a national cross-sectional survey...
November 23, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29159708/mainstreaming-genetics-in-palliative-care-barriers-and-suggestions-for-clinical-genetic-services
#7
A Dearing, N Taverner
Palliative healthcare professionals (PHCPs) frequently do not refer their eligible patients for genetic testing. After the death of the affected individual, clinically relevant information for family members is lost. In previous research, PHCPs stated that the end-of-life setting is not appropriate to discuss genetic issues. It is unclear if this has changed due to increasing awareness of genetics in the media and efforts to mainstream genetic testing. Semi-structured interviews of PHCPs were analysed by thematic analysis...
November 20, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29151150/a-comparison-of-cancer-risk-assessment-and-testing-outcomes-in-patients-from-underserved-vs-tertiary-care-settings
#8
Huma Q Rana, Sarah R Cochrane, Elaine Hiller, Ruth N Akindele, Callie M Nibecker, Ludmila A Svoboda, Angel M Cronin, Judy E Garber, Christopher S Lathan
In cancer genetics, technological advances (next generation sequencing) and the expansion of genetic test options have resulted in lowered costs and increased access to genetic testing. Despite this, the majority of patients utilizing cancer genetics services lack diversity of gender, ethnicity, and socioeconomic status. Through retrospective chart review, we compared outcomes of cancer genetics consultations at a tertiary cancer center and a Federally Qualified Health Center (FQHC) (58 tertiary and 23 FQHC patients) from 2013 to 2015...
November 18, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29150824/legislation-of-direct-to-consumer-genetic-testing-in-europe-a-fragmented-regulatory-landscape
#9
L Kalokairinou, H C Howard, S Slokenberga, E Fisher, M Flatscher-Thöni, M Hartlev, R van Hellemondt, J Juškevičius, J Kapelenska-Pregowska, P Kováč, L Lovrečić, H Nys, A de Paor, A Phillips, L Prudil, E Rial-Sebbag, C M Romeo Casabona, J Sándor, A Schuster, S Soini, K H Søvig, D Stoffel, T Titma, T Trokanas, P Borry
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, Cyprus, the Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Latvia, Lithuania, Luxembourg, Norway, Poland, Portugal, Romania, Slovakia, Slovenia, Spain, Sweden, the Netherlands and the United Kingdom...
November 18, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29143198/the-effect-of-parental-age-on-nf1-patients-in-turkey
#10
P Sharafi, B Anlar, S Ersoy-Evans, A Varan, O F Yılmaz, M Turan, S Ayter
Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, and its clinical presentations are highly variable. NF1 is caused by mutations in the NF1 gene, and 50% of NF1 cases are sporadic, which occur in the absence of a family history of the disease and usually result from a new mutation in the germline of a parent. Advanced paternal age may increase the risk for germinal NF1 mutations; however, some dominant conditions, including neurofibromatosis, have shown a lesser association with paternal age, although there are conflicting reports in the literature...
November 15, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29130150/predictors-of-adverse-psychological-experiences-surrounding-genome-wide-profiling-for-disease-risk
#11
K M Broady, K E Ormond, E J Topol, N J Schork, Cinnamon S Bloss
This study aimed to identify predictors of adverse psychological experiences among direct-to-consumer (DTC) genomic test consumers. We performed a secondary analysis on data from the Scripps Genomic Health Initiative (SGHI), which studied 2037 individuals tested with commercially available tests yielding personalized risk estimates for 23 common, genetically complex diseases. As part of the original study, the participants completed baseline and follow-up survey measures assessing demographics, personal and family health history, attitudes toward genetic testing, anxiety (State-Trait Anxiety Inventory (STAI)), test-related distress (Impact of Event Scale-Revised (IES-R)), and reactions to receipt of results...
November 13, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29124491/from-the-laboratory-to-the-clinic-sharing-brca-vus-reclassification-tools-with-practicing-genetics-professionals
#12
Bianca M Augusto, Paige Lake, Courtney L Scherr, Fergus J Couch, Noralane M Lindor, Susan T Vadaparampil
Despite ongoing research efforts to reclassify BRCA variant of uncertain significance (VUS), results for strategies to disseminate findings to genetic counselors are lacking. We disseminated results from a study on reclassification of BRCA VUS using a mailed reclassification packet including a reclassification guide, patient education aid, and patient letter template for patients/families with BRCA VUS. This study reports on genetic counselors' responses to the dissemination materials. Eligible participants (n = 1015) were identified using mailing lists from professional genetics organizations...
November 9, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29082482/germline-mutations-in-brca1-and-brca2-incidentally-revealed-in-a-biobank-research-study-experiences-from-re-contacting-mutation-carriers-and-relatives
#13
Martin P Nilsson, Monica Emmertz, Ulf Kristoffersson, Åke Borg, Christer Larsson, Martin Rehn, Christof Winter, Lao H Saal, Yvonne Brandberg, Niklas Loman
Once an incidental finding (IF) is discovered in the course of genomic research, the researchers are faced with the question of whether or not that finding should be reported back to the study participant. A large number of hypothetical studies and policy documents on this issue have been published, but there are very few empirical studies to inform the bioethics debate. Within a biobank research study of somatic mutations in breast carcinomas, ten germline BRCA1/2 mutations were incidentally detected. After thorough discussions within a group of experts, the mutation carriers (n = 7) or relatives of deceased carriers (n = 3) were re-contacted and informed about the findings...
October 30, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29064073/genuine-participation-in-participant-centred-research-initiatives-the-rhetoric-and-the-potential-reality
#14
Oliver Feeney, Pascal Borry, Heike Felzmann, Lucia Galvagni, Ari Haukkala, Michele Loi, Salvör Nordal, Vojin Rakic, Brígida Riso, Sigrid Sterckx, Danya Vears
The introduction of Web 2.0 technology, along with a population increasingly proficient in Information and Communications Technology (ICT), coupled with the rapid advancements in genetic testing methods, has seen an increase in the presence of participant-centred research initiatives. Such initiatives, aided by the centrality of ICT interconnections, and the ethos they propound seem to further embody the ideal of increasing the participatory nature of research, beyond what might be possible in non-ICT contexts alone...
October 24, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29052096/life-paths-of-patients-with-transthyretin-related-familial-amyloid-polyneuropathy-val30met-a-descriptive-study
#15
Alice Lopes, Alexandra Sousa, Isabel Fonseca, Margarida Branco, Carla Rodrigues, Teresa Coelho, Jorge Sequeiros, Paula Freitas
Transthyretin-related familial amyloid polyneuropathy Val30Met is a fatal progressive disease. It is a rare hereditary amyloidosis, manifesting as a sensorimotor neuropathy and autonomic dysfunction. It begins during adulthood and is a disabling disease, posing a great psychological burden to patients and their families. Our aim was to describe and characterize life events related to the disease and discuss its psychosocial implications. Social and demographic data and a questionnaire on history of family and personal disease, and biographic events, were applied to 209 subjects attending an outpatient specialized clinic...
October 19, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29032468/the-m2-haplotype-of-anxa5-gene-in-the-context-of-unexplained-recurrent-miscarriages
#16
LETTER
Arseni Markoff, Nadja Bogdanova
No abstract text is available yet for this article.
October 14, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29022220/an-overview-of-concepts-and-approaches-used-in-estimating-the-burden-of-congenital-disorders-globally
#17
Sowmiya Moorthie, Hannah Blencowe, Matthew W Darlison, Joy E Lawn, Pierpaolo Mastroiacovo, Joan K Morris, Bernadette Modell
Congenital disorders are an important cause of pregnancy loss, premature death and life-long disability. A range of interventions can greatly reduce their burden, but the absence of local epidemiological data on their prevalence and the impact of interventions impede policy and service development in many countries. In an attempt to overcome these deficiencies, we have developed a tool-The Modell Global Database of Congenital Disorders (MGDb) that combines general biological principles and available observational data with demographic data, to generate estimates of the birth prevalence and effects of interventions on mortality and disability due to congenital disorders...
October 11, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28971321/exploring-approaches-to-facilitate-family-communication-of-genetic-risk-information-after-cystic-fibrosis-population-carrier-screening
#18
Anita Gorrie, Alison D Archibald, Liane Ioannou, Lisette Curnow, Belinda McClaren
Population carrier screening for cystic fibrosis (CF) enables individuals with no known family history of the condition to ascertain their risk of having a child with CF. When an individual is identified as a carrier of CF, a life-shortening condition, they are encouraged to inform their relatives who are at increased risk of being a carrier. Research suggests that the uptake of CF carrier testing amongst relatives of carriers or people with CF is low. This study aimed to explore approaches to facilitate the process of family communication of genetic information after an individual is identified as a carrier of CF through population screening...
October 2, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28971318/preferences-for-multigene-panel-testing-for-hereditary-breast-cancer-risk-among-ethnically-diverse-brca-uninformative-families
#19
Belinda Vicuña, Harold D Delaney, Kristina G Flores, Lori Ballinger, Melanie Royce, Zoneddy Dayao, Tuya Pal, Anita Y Kinney
Until recently, genetic testing for hereditary breast cancer has primarily focused on pathogenic variants in the BRCA1 and BRCA2 (BRCA) genes. However, advances in DNA sequencing technologies have made simultaneous testing for multiple genes possible. We examined correlates of interest in multigene panel testing and risk communication preferences in an ethnically diverse sample of women who tested negative for BRCA mutations previously but remain at high risk based on their family history (referred to as "BRCA-uninformative") and their at-risk female family members...
October 2, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28914431/a-rare-disorder-or-not-how-a-child-with-jaundice-changed-a-nationwide-regimen-in-the-netherlands
#20
E A L van den Heuvel, A Baauw, S J Mensink-Dillingh, M Bartels
Due to global migration, there is an increased frequency of diseases, which used to be rare in Western countries. Here, we describe a striking case in order to create awareness for diseases that are known for decades but sometimes "forgotten" in Western countries, including glucose-6-phosphate dehydrogenase deficiency. We will discuss how everyday practice can lead to serious medical problems and present general recommendations to support.
October 2017: Journal of Community Genetics
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