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Journal of Community Genetics

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https://www.readbyqxmd.com/read/28324246/opinions-of-hearing-parents-about-the-causes-of-hearing-impairment-of-their-children-with-biallelic-gjb2-mutations
#1
Aisen V Solovyev, Lilya U Dzhemileva, Olga L Posukh, Nikolay A Barashkov, Marita S Bady-Khoo, Semen L Lobov, Natalya Yu Popova, Georgii P Romanov, Nikolay N Sazonov, Alexander A Bondar, Igor V Morozov, Mikhail I Tomsky, Sardana A Fedorova, Elza K Khusnutdinova
Hereditary hearing impairment (HI) caused by recessive GJB2 mutations is a frequent sensory disorder. The results of the molecular-based studies of HI are widely used in various genetic test systems. However, the ethical aspects are less described than the genetic aspects. The concerns expressed by individuals from groups with genetic risks must be included in the counseling of patients and their families. For evaluation of subjective opinions of hearing parents about the presumed causes of HI of their children, we analyze the cohort of parents having children with confirmed hereditary HI caused by biallelic recessive GJB2 mutations (in a homozygous or a compound heterozygous state)...
March 21, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28299592/the-effect-of-a-celebrity-health-disclosure-on-demand-for-health-care-trends-in-brca-testing-and-subsequent-health-services-use
#2
Megan C Roberts, Stacie B Dusetzina
In May 2013, an internationally renowned celebrity-Angelina Jolie-disclosed her receipt of BRCA1/BRCA2 (BRCA) testing and subsequent double mastectomy in a highly publicized editorial. Publicity surrounding celebrity health services use increases awareness of important health issues and demand for health services. We aimed to describe BRCA testing trends before and after Jolie's disclosure, breast cancer-related services use following testing, and test reimbursement trends. MarketScan Commercial Claims data were used to compare trends in BRCA testing before and after Jolie's health disclosure using an interrupted time series model among women aged 18-64...
March 15, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28289980/implementing-genetic-education-in-primary-care-the-gen-equip-programme
#3
Milena Paneque, Martina C Cornel, Vaclava Curtisova, Elisa Houwink, Leigh Jackson, Alastair Kent, Peter Lunt, Milan Macek, Vigdis Stefansdottir, Daniela Turchetti, Heather Skirton
Genetics and genomics are increasingly relevant to primary healthcare but training is unavailable to many practitioners. Education that can be accessed by practitioners without cost or travel is essential. The Gen-Equip project was formed to provide effective education in genetics for primary healthcare in Europe and so improve patient care. Partners include patient representatives and specialists in genetics and primary care from six countries. Here, we report the progress and challenges involved in creating a European online educational program in genetics...
March 13, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28255814/frequency-of-single-nucleotide-platelet-receptor-gene%C3%A2-polymorphism-p2y12-i744t-c-in-coronary-artery-disease-patients-among-tamilian-population
#4
R Priyadharsini, G Umamaheswaran, T A R Raja, A S Arun Kumar, K Subraja, S A Dkhar, S Satheesh, C Adithan, D G Shewade
Several factors contribute to the development of coronary artery disease (CAD). Adenosine diphosphate (ADP) activated P2Y12 receptor also plays a key role in platelet activation and aggregation. It has been found that common variation in the P2Y12 gene was associated with increased platelet aggregation resulting in adverse cardiovascular outcomes. Thus, polymorphisms in the ADP receptor P2Y12 may contribute to the development of CAD. This study aims to determine the frequency distribution of platelet receptor polymorphism P2Y12 (i744T>C) in Tamilian population and to predict its possible role in CAD...
March 2, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28251585/voluntary-premarital-screening-to-prevent-sickle-cell-disease-in-jamaica-does-it-work
#5
G R Serjeant, B E Serjeant, K P Mason, F Gibson, R Gardner, L Warren, M Jonker
To determine whether identifying haemoglobin genotype, and providing education and counselling to senior school students will influence their choice of partner and reduce the frequency of births with sickle cell disease. The Manchester Project provided free voluntary blood tests to determine haemoglobin genotype to the fifth and sixth forms (grades 11-13), median age of 16.7 years, of all 15 secondary schools in the parish of Manchester in south central Jamaica. A total of 16,636 students complied, and counselling was offered to carriers of abnormal genes over 6 years (2008-2013)...
March 1, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28083845/breast-cancer-genetic-counseling-among-dutch-patients-from-turkish-and-moroccan-descent-participation-determinants-and-perspectives-of-patients-and-healthcare-professionals
#6
J E Baars, A M van Dulmen, M E Velthuizen, E van Riel, M G E M Ausems
Lower participation rates in cancer genetic counseling are observed among different ethnic minorities. The goal of our study is to gain insight into determinants of Turkish and Moroccan patients' participation in breast cancer genetic counseling and DNA testing, from the point of view of healthcare professionals and patients. Questionnaire-based telephone interviews about awareness, perceptions, and reasons for (non-) participation in cancer genetic counseling were conducted with 78 Dutch breast cancer patients from Turkish and Moroccan descent...
January 12, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28074382/engaging-hmong-adults-in-genomic%C3%A2-and%C3%A2-pharmacogenomic-research-toward-reducing-health-disparities-in-genomic-knowledge-using-a-community-based-participatory-research-approach
#7
Kathleen A Culhane-Pera, Robert J Straka, MaiKia Moua, Youssef Roman, Pachia Vue, Kang Xiaaj, May Xia Lo, Mai Lor
Advancing precision medicine relies in part on examining populations that may exhibit unique genetic variants that impact clinical outcomes. Failure to include diverse populations in genomic-based research represents a health disparity. We implemented a community-based participatory research (CBPR) process with the Hmong community in Minnesota, who were refugees from Laos, in order to assess the feasibility of conducting genomic and pharmacogenomic-based research for genetic variants that are relevant to the Hmong community...
January 10, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28064391/survey-of-family-history-taking-and-genetic-testing-in-pediatric-practice
#8
Robert A Saul, Tracy Trotter, Kerry Sease, Beth Tarini
Family health history collection and genetic testing are core elements for the successful translation of genomics into primary care practice. Yet, little is known about how pediatric providers implement these elements in practice. We surveyed the membership of the American Academy of Pediatrics regarding family health history (FHH) collection and genetic testing in the primary care setting. Three hundred forty-nine (349) responses were analyzed with the initial response rate of 43.3%. Four principal findings were noted-(1) family health history is still recognized as a critical part of the medical evaluation; (2) perceived obstacles for FHH are time in obtaining the FHH and concerns about the family's knowledge of their FHH; (3) a 3-generation family history is out of the scope of routine care and alternate methods should be considered; (4) most primary care providers (PCPs) do not feel comfortable ordering, interpreting, and counseling regarding current genetic testing...
January 7, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28050887/assessment-of-in-silico-protein-sequence-analysis-in-the-clinical-classification-of-variants-in-cancer-risk-genes
#9
Iain D Kerr, Hannah C Cox, Kelsey Moyes, Brent Evans, Brianna C Burdett, Aric van Kan, Heather McElroy, Paris J Vail, Krystal L Brown, Dechie B Sumampong, Nicholas J Monteferrante, Kennedy L Hardman, Aaron Theisen, Erin Mundt, Richard J Wenstrup, Julie M Eggington
Missense variants represent a significant proportion of variants identified in clinical genetic testing. In the absence of strong clinical or functional evidence, the American College of Medical Genetics recommends that these findings be classified as variants of uncertain significance (VUS). VUSs may be reclassified to better inform patient care when new evidence is available. It is critical that the methods used for reclassification are robust in order to prevent inappropriate medical management strategies and unnecessary, life-altering surgeries...
January 3, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28050886/evaluation-of-cortisol-and-telomere-length-measurements-in-ethnically-diverse-women-with-breast-cancer-using-culturally-sensitive-methods
#10
Julio Ramirez, May Elmofty, Esperanza Castillo, Mindy DeRouen, Salma Shariff-Marco, Laura Allen, Scarlett Lin Gomez, Anna María Nápoles, Leticia Márquez-Magaña
The under-representation of ethnic minority participants, who are more likely to be socially disadvantaged in biomedical research, limits generalizability of results and reductions in health disparities. To facilitate investigations of how social disadvantage "gets under the skin," this pilot study evaluated low-intensity methods for collecting hair and saliva samples from multiethnic breast cancer survivors (N = 70) and analysis of biomarkers of chronic stress (cortisol levels) and biological age (telomere length)...
January 3, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/27924449/translation-and-adaptation-of-skin-cancer-genomic-risk-education-materials-for-implementation-in-primary-care
#11
Vivian M Rodríguez, Erika Robers, Kate Zielaskowski, C Javier González, Keith Hunley, Kimberly A Kaphingst, Dolores D Guest, Andrew Sussman, Kirsten A Meyer White, Matthew R Schwartz, Jennie Greb, Yvonne Talamantes, Jessica Bigney, Marianne Berwick, Jennifer L Hay
Genomic medicine has revolutionized disease risk identification and subsequent risk reduction interventions. Skin cancer risk genomic feedback is a promising vehicle to raise awareness and protective behaviors in the general population, including Hispanics who are largely unaware of their risks. Yet, personalized genomics currently has limited reach. This study is the initial phase of a randomized controlled trial investigating the personal utility and reach of genomic testing and feedback for melanoma. Semi-structured cognitive interviews (N = 28), stratified across education level, were conducted to assess the comprehension and acceptability of translated skin cancer genomic risk education materials with Spanish-speaking Hispanic primary care patients...
January 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/27889901/a-novel-approach-to-screening-for-familial-hypercholesterolemia-in-a-large-public-venue
#12
Megan Campbell, Jessa Humanki, Heather Zierhut
The primary aim of this study was to test the feasibility of a public health screening program to identify individuals at high risk of familial hypercholesterolemia through a novel screening approach at a large public venue. A finger-prick, non-fasting lipid panel was obtained, and a survey which consisted of 44 open- and close-ended questions divided into four sections: medical and family history of FH, opinions of cascade genetic testing, patient activation, and demographics was completed. A total of 971 participants met criteria and completed a cholesterol screen...
January 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/27866366/a-qualitative-study-of-patients-perceptions-of-the-value-of-molecular-diagnosis-for-familial-hypercholesterolemia-fh
#13
Nina Hallowell, Nicholas Jenkins, Margaret Douglas, Simon Walker, Robert Finnie, Mary Porteous, Julia Lawton
For many years, familial hypercholesterolemia (FH), an inherited disorder, has been diagnosed using phenotypic features plus family history of early onset cardiovascular disease (CVD), and has been successfully treated using statin therapy. DNA testing is now available and this has been incorporated into familial cascade screening programmes in many parts of Europe. Little is known about patients' perceptions of the value of undergoing molecular diagnosis for FH. In-depth interviews were carried out with patients (n = 38) being treated for FH who were the first in their family to undergo DNA testing for FH...
January 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/27822876/leaves-imitate-trees-minnesota-hmong-concepts-of-heredity-and-applications-to-genomics-research
#14
Kathleen A Culhane-Pera, MaiKia Moua, Pachia Vue, Kang Xiaaj, May Xia Lo, Robert J Straka
Historically, Hmong refugees in the USA were distrustful of Western medicine, medicines, and medical research due to concerns about harm and experimentation. Current Hmong concerns about genomics research are not well known. Our research aims were to identify cultural and ethical issues about conducting genomic studies in the Hmong community. Using a community-based participatory action process, the West Side Hmong Genomics Research Board conducted a qualitative exploratory research study that included semistructured interviews with five Hmong key informants and five focus groups with 42 Hmong adults near Saint Paul, Minnesota...
January 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/27796853/newborn-screening-for-sickle-cell-disease-in-jamaica-logistics-and-experience-with-umbilical-cord-samples
#15
G R Serjeant, B E Serjeant, K P Mason, R Gardner, L Warren, F Gibson, M Coombs
The study aims to describe the logistics and results of a programme for newborn screening for sickle cell disease based on samples from the umbilical cord. Samples were dried on Guthrie cards and analysed by high pressure liquid chromatography. All suspected clinically significant abnormal genotypes were confirmed by age 4-6 weeks with family studies and then recruited to local sickle cell clinics. The programme has screened 66,833 samples with the sickle cell trait in 9.8 % and the HbC trait in 3.8 %. Sickle cell syndromes occurred in 407 babies (204 SS, 148 SC, 35 Sbeta(+) thalassaemia, 6 Sbeta(o) thalassaemia, 6 sickle cell-variants, 8 sickle cell-hereditary persistence of fetal haemoglobin) and HbC syndromes in 42 (22 CC, 14 Cbeta(+) thalassaemia, 1 Cbeta(o) thalassaemia, 5 HbC- hereditary persistence of fetal haemoglobin)...
January 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/27714667/challenges-in-the-management-of-patients-with-maple-syrup-urine-disease-diagnosed-by-newborn-screening-in-a-developing-country
#16
Leniza G De Castro-Hamoy, Mary Anne D Chiong, Sylvia C Estrada, Cynthia P Cordero
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism resulting from a deficiency in the branched-chain alpha-ketoacid dehydrogenase complex. MSUD has been reported to be the most common inborn error of metabolism in the Philippines. We described all patients with maple syrup urine disease patients diagnosed through newborn screening during its first 2 years of implementation and the challenges encountered during their medical management. There were 24 patients diagnosed with maple syrup urine disease for the 2-year period...
January 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/27541682/geographic-clusters-of-congenital-anomalies-in-argentina
#17
Boris Groisman, Juan Gili, Lucas Giménez, Fernando Poletta, María Paz Bidondo, Pablo Barbero, Rosa Liascovich, Jorge López-Camelo
Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time. The aim of this study was to identify potential geographical clusters of specific selected congenital anomalies (CA) in Argentina. The cases were ascertained from 703,325 births, examined in 133 maternity hospitals in the 24 provinces of Argentina. We used the spatial scan statistic to determine areas of Argentina which had statistically significant elevations of prevalence...
January 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/27787753/erratum-to-development-and-validation-of-the-biobanking-attitudes-and-knowledge-survey-spanish-banks-sp
#18
Mariana Arevalo, Paul B Jacobsen, Clement K Gwede, Cathy D Meade, Gwendolyn P Quinn, John S Luque, Gloria I San Miguel, Dale Watson, Kristen J Wells
No abstract text is available yet for this article.
October 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27627979/development-and-validation-of-the-biobanking-attitudes-and-knowledge-survey-spanish-banks-sp
#19
Mariana Arevalo, Paul B Jacobsen, Clement K Gwede, Cathy D Meade, Gwendolyn P Quinn, John S Luque, Gloria San Miguel, Dale Watson, Kristen J Wells
Few research studies with non-English-speaking audiences have been conducted to explore community members' views on biospecimen donation and banking, and no validated Spanish-language multi-scale instruments exist to measure community perspectives on biobanking. This study describes the development and psychometric properties of the Biobanking Attitudes aNd Knowledge Survey-Spanish (BANKS-SP). The BANKS was translated into Spanish using the Brislin method of translation. Draft BANKS-SP items were refined through cognitive interviews, and psychometric properties were assessed in a sample of 85 Spanish-speaking individuals recruited at various community events in a three county area in central west Florida, USA...
October 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27614444/community-engagement-and-education-addressing-the-needs-of-south-asian-families-with-genetic-disorders
#20
Nasaim Khan, Gifford Kerr, Helen Kingston
Consanguineous marriage is common among the South Asian heritage community in the UK. While conferring social and cultural benefits, consanguinity is associated with an increased risk of autosomal recessive disorders and an increase in childhood death and disability. We have previously developed a genetic service to address the needs of this community. We report the extension of this service to include community-based initiatives aimed at promoting understanding of genetic issues related to consanguinity and improving access to genetic services...
October 2016: Journal of Community Genetics
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