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Journal of Community Genetics

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...
November 26, 2016: Journal of Community Genetics
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...
November 19, 2016: Journal of Community Genetics
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...
November 7, 2016: Journal of Community Genetics
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)...
October 29, 2016: Journal of Community Genetics
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 27, 2016: Journal of Community Genetics
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...
October 6, 2016: Journal of Community Genetics
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...
September 15, 2016: Journal of Community Genetics
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...
September 10, 2016: Journal of Community Genetics
Megan E Bunnell, Beth A Tarini, Michael Petros, Aaron J Goldenberg, Aishwarya Arjunan, Catherine Wicklund
We aimed to better understand biobank participant opinions of the benefits of newborn screening (NBS) for certain disorder types and how terminology used in NBS discourse might impact stakeholder opinion. We conducted a between-subjects randomized survey of 5840 members of the Northwestern University Biobank. The survey contained 12 scenarios, each describing a disorder and its treatment. For each scenario, we varied the terminology used to describe treatment options. One survey version used the term intervention and the other treatment...
September 1, 2016: Journal of Community Genetics
Shaik Mohammad Naushad, Chandrasekhar Divya, M Janaki Ramaiah, Tajamul Hussain, Salman A Alrokayan, Vijay Kumar Kutala
Aberrations in one-carbon metabolism were reported to increase breast cancer risk by influencing the DNA synthesis and methylation of DNA and catecholamines. However, the results of these association studies remain inconclusive. We have explored the contribution of eight genetic polymorphisms in modulating the susceptibility to breast cancer by performing a meta-analysis of worldwide studies. In total, 62 case-control studies representing 17 different populations involving 18,117 breast cancer cases and 23,573 healthy controls were included in this meta-analysis...
August 19, 2016: Journal of Community Genetics
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...
August 19, 2016: Journal of Community Genetics
Hojjat Soofi, Evert van Leeuwen
The one-size-fits-all paradigm of drug development fails to address inter-individual variability in drug response. Pharmacogenetics research aims at studying the role of genotypic differences in drug response. Recently, the pharmaceutical industry has shown interest to embed pharmacogenetics studies in the process of drug development. Nevertheless, population-based and commercial aspects of such future-oriented studies pose challenges for individually based informed consent (IC). As an exemplar of the communal turn to IC procedures, community advisory boards (CABs) have been integrated into different types of medical research...
August 5, 2016: Journal of Community Genetics
Elisa M Rodriguez, Frances G Saad-Harfouche, Austin Miller, Martin C Mahoney, Christine B Ambrosone, Carl D Morrison, Willie Underwood, Deborah O Erwin
The disproportionately lower number of certain subpopulations participating in clinical and prevention research has a significant impact on the representativeness of scientific outcomes. The Hoy y Mañana program (Today and Tomorrow) was developed as a culturally and linguistically appropriate education program to engage diverse medically underserved populations without a cancer diagnosis in biospecimen donation for cancer genomic research. Participants were recruited to in-depth community-based educational programs (∼45-60-min duration) or during open events in the community based on a convenience sampling...
August 3, 2016: Journal of Community Genetics
Ellen Ternby, Ove Axelsson, Göran Annerén, Peter Lindgren, Charlotta Ingvoldstad
To investigate if actual knowledge of Down syndrome (DS), influences the decision to accept or decline prenatal diagnosis (PND). Secondary aims were to elucidate reasons for accepting or declining PND and investigate differences between the accepting and declining group in perceived information, knowing someone with DS and thoughts about decision-making. A questionnaire was completed by 76 pregnant women who underwent invasive testing and 65 women who declined tests for chromosomal aberrations in Uppsala, Sweden...
July 2016: Journal of Community Genetics
Fazeela Waheed, Colleen Fisher, AwoNiyi Awofeso, David Stanley
The Republic of Maldives (Maldives) is an island nation in the Indian Ocean with a population of 344, 023. Studies show that Maldives has one of the world's highest thalassemia carrier rates. It is estimated that 16-18 % of the Maldivians are β-thalassemia carriers, and approximately 28 new β-thal cases are recorded annually. Poor uptake of screening for the condition is one of the main reasons for this high number of new cases. The aim of this study was to explore the reasons for not testing for thalassemia in Maldives before or after marriage...
July 2016: Journal of Community Genetics
Vigdis Stefansdottir, Oskar Th Johannsson, Heather Skirton, Jon J Jonsson
While pedigree drawing software is often utilised in genetic services, the use of genealogical databases in genetic counselling is unusual. This is mainly because of the unavailability of such databases in most countries. Electronically generated pedigrees used for cancer genetic counselling in Iceland create pedigrees that automatically incorporate information from a large, comprehensive genealogy database and nation-wide cancer registry. The aim of this descriptive qualitative study was to explore counsellees' experiences of genetic services, including family history taking, using these electronically generated pedigrees...
July 2016: Journal of Community Genetics
Trilokesh D Kidambi, Robin Lee, Jonathan P Terdiman, Lukejohn Day
Lynch syndrome (LS) is the most common cause of hereditary colorectal cancer (CRC), and national guidelines recommend screening patients with CRC for LS. However, there is a paucity of data related to Lynch syndrome in the underserved population, in which unique issues of access, cultural beliefs regarding cancer, language barriers, immigration status, and financial restraints exist. We performed a descriptive, retrospective review of a selective LS screening protocol at an urban safety net hospital between 2009 and 2014 with the aim of describing the detected prevalence of LS as well as reporting the high quality and suboptimal screening rates...
July 2016: Journal of Community Genetics
Sarah Salway, Parveen Ali, Giles Ratcliffe, Elizabeth Such, Nasaim Khan, Helen Kingston, Oliver Quarrell
Populations practising customary consanguineous marriage have a higher incidence of autosomal recessive genetic disorders than those in which reproductive partners are usually unrelated. In the absence of any national-level response, English service developments to address the additional needs of families living with or at risk of such disorders have been locally led. These interventions remain in their infancy here, as elsewhere in Europe, and important questions remain regarding how appropriate, effective and sustainable responses can be operationalised in practice...
July 2016: Journal of Community Genetics
A Matar, U Kihlbom, A T Höglund
Reproductive autonomy, medicalization, and discrimination against disabled and parental responsibility are the main ongoing ethical debates concerning reproductive genetic screening. To examine Swedish healthcare professionals' views on preconception expanded carrier screening (ECS), a qualitative study involving academic and clinical institutions in Sweden was conducted in September 2014 to February 2015. Eleven healthcare professionals including clinicians, geneticists, a midwife, and a genetic counselor were interviewed in depth using a semi-structured interview guide...
July 2016: Journal of Community Genetics
Kofi A Anie, Marsha J Treadwell, Althea M Grant, Jemima A Dennis-Antwi, Mabel K Asafo, Mary E Lamptey, Jelili Ojodu, Careema Yusuf, Ayo Otaigbe, Kwaku Ohene-Frempong
Sickle cell disease (SCD) and sickle cell trait (SCT) are highly prevalent in Africa. Despite public health implications, there is limited understanding of community issues for implementing newborn screening and appropriate family counseling. We conducted a 3-day workshop in Kumasi, Ghana, with community leaders as lay program development advisors to assist the development and implementation of a Sickle Cell Counselor Training and Certification Program. We employed qualitative methods to understand cultural, religious, and psychosocial dimensions of SCD and SCT, including the advisors' attitudes and beliefs in relation to developing a culturally sensitive approach to family education and counseling that is maximally suited to diverse communities in Ghana...
July 2016: Journal of Community Genetics
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