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Journal of Community Genetics

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https://www.readbyqxmd.com/read/29143198/the-effect-of-parental-age-on-nf1-patients-in-turkey
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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/28952070/the-challenges-of-the-expanded-availability-of-genomic-information-an-agenda-setting-paper
#11
Pascal Borry, Heidi Beate Bentzen, Isabelle Budin-Ljøsne, Martina C Cornel, Heidi Carmen Howard, Oliver Feeney, Leigh Jackson, Deborah Mascalzoni, Álvaro Mendes, Borut Peterlin, Brigida Riso, Mahsa Shabani, Heather Skirton, Sigrid Sterckx, Danya Vears, Matthias Wjst, Heike Felzmann
Rapid advances in microarray and sequencing technologies are making genotyping and genome sequencing more affordable and readily available. There is an expectation that genomic sequencing technologies improve personalized diagnosis and personalized drug therapy. Concurrently, provision of direct-to-consumer genetic testing by commercial providers has enabled individuals' direct access to their genomic data. The expanded availability of genomic data is perceived as influencing the relationship between the various parties involved including healthcare professionals, researchers, patients, individuals, families, industry, and government...
September 26, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28948513/chromosomal-disorders-estimating-baseline-birth-prevalence-and-pregnancy-outcomes-worldwide
#12
Sowmiya Moorthie, Hannah Blencowe, Matthew W Darlison, Stephen Gibbons, Joy E Lawn, Pierpaolo Mastroiacovo, Joan K Morris, Bernadette Modell
Chromosomal disorders, of which Down syndrome is the most common, can cause multi-domain disability. In addition, compared to the general population, there is a higher frequency of death before the age of five. In many settings, large gaps in data availability have hampered policy-making, programme priorities and resource allocation for these important conditions. We have developed methods, which overcome this lack of data and allow estimation of the burden of affected pregnancies and their outcomes in different settings worldwide...
September 26, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28948532/how-to-responsibly-acknowledge-research-work-in-the-era-of-big-data-and-biobanks-ethical-aspects-of-the-bioresource-research-impact-factor-brif
#13
Heidi Carmen Howard, Deborah Mascalzoni, Laurence Mabile, Gry Houeland, Emmanuelle Rial-Sebbag, Anne Cambon-Thomsen
Currently, a great deal of biomedical research in fields such as epidemiology, clinical trials and genetics is reliant on vast amounts of biological and phenotypic information collected and assembled in biobanks. While many resources are being invested to ensure that comprehensive and well-organised biobanks are able to provide increased access to, and sharing of biomedical samples and information, many barriers and challenges remain to such responsible and extensive sharing. Germane to the discussion herein is the barrier to collecting and sharing bioresources related to the lack of proper recognition of researchers and clinicians who developed the bioresource...
September 25, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28921376/legal-issues-in-governing-genetic-biobanks-the-italian-framework-as-a-case-study-for-the-implications-for-citizen-s-health-through-public-private-initiatives
#14
Cinzia Piciocchi, Rossana Ducato, Lucia Martinelli, Silvia Perra, Marta Tomasi, Carla Zuddas, Deborah Mascalzoni
This paper outlines some of the challenges faced by regulation of genetic biobanking, using case studies coming from the Italian legal system. The governance of genetic resources in the context of genetic biobanks in Italy is discussed, as an example of the stratification of different inputs and rules: EU law, national law, orders made by authorities and soft law, which need to be integrated with ethical principles, technological strategies and solutions. After providing an overview of the Italian legal regulation of genetic data processing, it considers the fate of genetic material and IP rights in the event of a biobank's insolvency...
September 18, 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
#15
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.
September 15, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28914427/the-clinical-and-genetic-spectrum-of-maroteaux-lamy-syndrome-mucopolysaccharidosis-vi-in-the-eastern-province-of-saudi-arabia
#16
Nouriya Abbas Al-Sannaa, Hind Yousif Al-Abdulwahed, Sami Ibrahim Al-Majed, Issam Hassan Bouholaigah
Mucopolysaccharidosis (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine 4-sulfatase or arylsulfatase B. It is involved in the degradation of glycosaminoglycans and characterized by a wide spectrum of clinical and genetic heterogeneity. So far, more than 150 mutations have been reported in the ARSB gene. Most of these mutations are either novel, private, or compound heterozygous making phenotype-genotype correlation as well as population screening difficult...
September 15, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28905309/blame-a-novel-by-tony-holtzman
#17
Martina C Cornel
After writing many scientific articles at the interface of genetics and society, Neil A (Tony) Holtzman published a novel in Autumn 2016: Blame. This book review summarizes several of the story lines, some of which are related to the Inclusion of Diverse Populations in Genomics Research and Health Services, the topic of a special issue of the Journal of Community Genetics.
September 14, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28905227/genomics-for-all-in-the-21st-century
#18
Martina C Cornel, Vence L Bonham
As the field of genomics enters the second decade after the completion of the International Human Genome Project, human genomics research is still far from reflective of the ancestral diversity found in global populations. This special issue of the Journal of Community Genetics brings together a global perspective on the need for researchers and health care professionals to support achievable milestones that will enhance global ancestral diversity in genomic research for the 21st century, and integrate the resulting knowledge into health care that benefits everyone...
September 14, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28879424/increasing-the-involvement-of-diverse-populations-in-genomics-based-health-care-lessons-from-haemoglobinopathies
#19
Helen M Robinson
Integrating genomic medicine into health care delivery poses significant challenges to health professionals. To draw clinical benefit from genomic information, there is a need to build an evidence-based relationship between genotype and the physical expression of that genomic information. The work presented here uses preliminary work in the field of haemoglobinopathies to address two important challenges: to ensure that health care professionals in low- and middle-income countries are actively involved in the processes that will support genomic medicine, and that equity and diversity concerns are met so that clinical services can have relevance across all population and sub-population groups...
September 6, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28868574/racial-minority-group-interest-in-direct-to-consumer-genetic-testing-findings-from-the-pgen-study
#20
Latrice Landry, Daiva Elena Nielsen, Deanna Alexis Carere, J Scott Roberts, Robert C Green
There is little information regarding direct-to-consumer (DTC) personal genetic testing (PGT) in non-White racial minorities. Using a web-based survey, we compared the pretest interests and attitudes toward DTC-PGT of racial minority and White DTC-PGT customers of 23andMe and Pathway Genomics using chi-square tests and multinomial regression. Data were available for 1487 participants (1389 White, 44 Black, and 54 Asian). Survey responses were similar across racial groups, although a greater proportion of Blacks compared to Whites reported being "very interested" in genetic information related to traits (91...
September 4, 2017: Journal of Community Genetics
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