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Journal of Community Genetics

Danielle S Dondanville, Andrea K Hanson-Kahn, Melinda S Kavanaugh, Carly E Siskind, Joanna H Fanos
Huntington's disease (HD) is a predominantly adult-onset, genetic, neurodegenerative condition. Children of affected individuals have a 50% risk of inheriting HD and often assume caregiving roles for their parent. Studies specifically focused on HD young caregivers have proposed that the genetic risk component of HD "exacerbates" the caregiving experience and identified common responsibilities, burdens, and support needs, but none have explored the relationship between the caregiving role and perception of genetic risk...
November 14, 2018: Journal of Community Genetics
Niki M Medendorp, Marij A Hillen, Laxsini Murugesu, Cora M Aalfs, Anne M Stiggelbout, Ellen M A Smets
Multigene panel testing is mainly used to improve identification of genetic causes in families with characteristics fitting multiple possible cancer syndromes. This technique may yield uncertainty, for example when variants of unknown significance are identified. This study explores counsellors' and counselees' experiences with uncertainty, and how they discuss uncertainties and decide about multigene panel testing. Six focus groups were conducted including 38 counsellors. Twelve counselees who had received genetic counselling about a multigene panel test were interviewed...
November 14, 2018: Journal of Community Genetics
Erin LePoire, Baishakhi Basu, Lorelei Walker, Deborah J Bowen
Genetics is increasingly becoming a part of modern medical practice. How people think about genetics' use in medicine and their daily lives is therefore essential. Earlier studies indicated mixed attitudes about genetics. However, this might be changing. Using the preferred reporting items for systematic reviews and meta-analyses (PRISMA) as a guideline, we initially reviewed 442 articles that looked at awareness, attitudes, knowledge, and perception of risks among the general and targeted recruitment populations...
November 7, 2018: Journal of Community Genetics
F D Tucker, J K Morris, A Neville, E Garne, A Kinsner-Ovaskainen, M Lanzoni, M A Loane, S Martin, C Nicholl, J Rankin, A K Rissmann
The published online version contains the following errors: On the cover page "JRC Management Committee" - should be corrected to JRC-EUROCAT Management Committee. In the authors list under the title, same as above, "JRC Management Committee" should be corrected to JRC-EUROCAT Management Committee.
October 25, 2018: Journal of Community Genetics
Josephine Claire Rance, Heather Skirton
Sickle cell disease is one of the most prevalent genetic diseases in the world. Improvements in care have enabled those affected to experience an improved quality of life, with many affected persons now reaching reproductive age. However, pregnancy poses significant risks for women with the disease and this may affect their reproductive decisions. We conducted an integrative review of the published relevant scientific evidence to ascertain the factors that may influence these women with their reproductive decisions...
October 3, 2018: Journal of Community Genetics
John Benedict B Lagarde, Mercy Y Laurino, Michael D San Juan, Jaclyn Marie L Cauyan, Ma-Am Joy R Tumulak, Elizabeth R Ventura
The burden and experiences that come with a breast cancer diagnosis in a family impact how women perceive personal cancer risk and pursue preventive strategies and/or early detection screening. Hence, this study sought to understand how Filipino women incorporate their experiences living with a sister diagnosed with early-onset breast cancer to their personal perceived risk and screening behavior. Guided by phenomenological approach of inquiry, a face-to-face, semi-structured interview was conducted with 12 purposively sampled women with a female sibling diagnosed with breast cancer before age 50...
September 27, 2018: Journal of Community Genetics
Amal Matar, Mats G Hansson, Anna T Höglund
To improve healthcare policymaking, commentators have recommended the use of evidence, health technology assessment, priority setting, and public engagement in the process of policymaking. Preconception expanded carrier screening, according to the World Health Organization's definition, is a novel health technology and therefore warrants assessment, part of which involves evaluating ethical and social implications. We examined ten Swedish policymakers' perspectives on ethical and social aspects of preconception expanded screening through in-depth expert interviewing, using a semi-structured questionnaire...
September 26, 2018: Journal of Community Genetics
Isabelle Henriksson, Karin Henriksson, Hans Ehrencrona, Samuel Gebre-Medhin
Overlapping phenotypes between different hereditary colorectal cancer (CRC) syndromes together with a growing demand for cancer genetic testing and improved sequencing technology call for adjusted patient selection and adapted diagnostic routines. Here we present a retrospective evaluation of family history of cancer, laboratory diagnostic procedure, and outcome for 372 patients tested for Lynch syndrome (LS), i.e., the single most common hereditary cause of CRC. Based on number of affected family members and age at cancer diagnosis in families with genetically confirmed LS, we developed local patient selection criteria for a simplified one-step gene panel mutation screening strategy targeting also less common Mendelian CRC syndromes...
September 24, 2018: Journal of Community Genetics
Kim C A Holtkamp, Lidewij Henneman, Johan J P Gille, Hanne Meijers-Heijboer, Martina C Cornel, Phillis Lakeman
A Dutch university hospital started offering cystic fibrosis (CF) carrier screening directly to consumers (DTC) through their website in 2010. A 6-year process evaluation was conducted to evaluate the offer. Screening was implemented as intended. However, uptake was lower than expected. Forty-four tests have been requested, partly by couples with a positive family history for CF, which was not the intended target group. Users were generally positive about the screening offer, citing accessibility, ease of testing, anonymity, and perceived shortcomings of regular healthcare as reasons for requesting screening...
September 18, 2018: Journal of Community Genetics
Kirsten F L Douma, Fonnet E Bleeker, Niki M Medendorp, Emmelyn A J Croes, Ellen M A Smets
Individuals at high risk for Lynch syndrome (LS) should be offered genetic counselling, since preventive options are available. However, uptake of genetic services and follow-up care are currently suboptimal, possibly caused by inadequate exchange of information. Therefore, this qualitative study aims to gain insight in the process of information exchange between patients diagnosed with LS and their non-genetic (i.e., general practitioner, gastroenterologist, gynaecologist) and genetic (i.e., clinical geneticist or genetic counsellor) health professionals concerning referral for genetic counselling and follow-up care...
September 12, 2018: Journal of Community Genetics
John Zimmerman, Daniel Duprez, Patricia McCarthy Veach, Heather A Zierhut
Familial hypercholesterolemia (FH) is severely underdiagnosed in the USA. Primary care providers are well-positioned to identify FH cases; however, universal FH screening is not routinely implemented in practice. The aim of the present study was to identify perceived barriers to FH screening among primary care physicians in Minnesota. A questionnaire assessed FH screening practices, knowledge, and perceived barriers to FH screening. The questionnaire, sent electronically to internal and family medicine physicians in Minnesota (N = 1932) yielded a conservative estimated response rate of 9% (N = 173)...
September 11, 2018: Journal of Community Genetics
Justin Gasparini, Tatiana Yuzyuk, Allison Ortega, Irene De Biase
No abstract text is available yet for this article.
September 5, 2018: Journal of Community Genetics
Kunal Sanghavi, Ivy Moses, DuWade Moses, Adelaide Gordon, Linda Chyr, Joann Bodurtha
Discussion of family health history (FH) has the potential to be a communication tool within families and with health providers to stimulate health promotion related to many chronic conditions, including those with genetic implications for prevention, screening, diagnosis, treatment. Diverse communities with disparities in health outcomes may require different approaches to engage individuals and families in the evolving areas of genetic risk communication, assessment, and services. This work was a partnership of a local urban agency and academic genetics professionals to increase understanding of community concerns and preferences related to FH and genetic awareness...
August 31, 2018: Journal of Community Genetics
Bernadette Modell, Matthew W Darlison, Helen Malherbe, Sowmiya Moorthie, Hannah Blencowe, Ramez Mahaini, Maha El-Adawy
No abstract text is available yet for this article.
October 2018: Journal of Community Genetics
Eva Bermejo-Sánchez, Lorenzo D Botto, Marcia L Feldkamp, Boris Groisman, Pierpaolo Mastroiacovo
Birth defects (BD), also known as congenital anomalies, are structural or functional abnormalities present at birth as a result of abnormal prenatal development. Their cause can be broadly categorized as genetic, environmental, or a combination of both. It is estimated that approximately 3-6% of newborn infants worldwide are affected by BD, many of which are associated with serious morbidity, mortality, and lifelong disabilities. The International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), founded in 1974, promotes worldwide birth defect surveillance, research, and prevention through the ongoing sharing of data, expertise, and training...
October 2018: Journal of Community Genetics
Sowmiya Moorthie, Hannah Blencowe, Matthew W Darlison, Joy Lawn, Joan K Morris, Bernadette Modell, A H Bittles, H Blencowe, A Christianson, S Cousens, M W Darlison, S Gibbons, H Hamamy, B Khoshnood, C P Howson, J Lawn, P Mastroiacovo, B Modell, S Moorthie, J K Morris, P A Mossey, A J Neville, M Petrou, S Povey, J Rankin, L Schuler-Faccini, C Wren, K A Yunnis
Congenital anomaly registries have two main surveillance aims: firstly to define baseline epidemiology of important congenital anomalies to facilitate programme, policy and resource planning, and secondly to identify clusters of cases and any other epidemiological changes that could give early warning of environmental or infectious hazards. However, setting up a sustainable registry and surveillance system is resource-intensive requiring national infrastructure for recording all cases and diagnostic facilities to identify those malformations that that are not externally visible...
October 2018: Journal of Community Genetics
Bernadette Modell, Matthew W Darlison, Joy E Lawn
Congenital disorders (often also called birth defects) are an important cause of mortality and disability. They encompass a wide range of disorders with differing severity that can affect any aspect of structure or function. Understanding their epidemiology is important in developing appropriate services both for their prevention and treatment. The need for epidemiological data on congenital disorders has been recognised for many decades. Here, we provide a historical overview of work that has led to the development of the Modell Global Database of Congenital Disorders (MGDb)-a tool that can be used to generate evidence-based country, regional and global estimates of the birth prevalence and outcomes of congenital disorders...
October 2018: Journal of Community Genetics
Hannah Blencowe, Sowmiya Moorthie, Mary Petrou, Hanan Hamamy, Sue Povey, Alan Bittles, Stephen Gibbons, Matthew Darlison, Bernadette Modell
As child mortality rates overall are decreasing, non-communicable conditions, such as genetic disorders, constitute an increasing proportion of child mortality, morbidity and disability. To date, policy and public health programmes have focused on common genetic disorders. Rare single gene disorders are an important source of morbidity and premature mortality for affected families. When considered collectively, they account for an important public health burden, which is frequently under-recognised. To document the collective frequency and health burden of rare single gene disorders, it is necessary to aggregate them into large manageable groupings and take account of their family implications, effective interventions and service needs...
October 2018: Journal of Community Genetics
F D Tucker, J K Morris, A Neville, E Garne, A Kinsner-Ovaskainen, M Lanzoni, M A Loane, S Martin, C Nicholl, J Rankin, A K Rissmann
This paper provides an outline of the development and growth of EUROCAT, the European network of congenital anomaly registers. In recent years the network has been through a period of transition and change. The Central Register of data has transferred from the Ulster University to the EU Joint-Research-Centre, Ispra, Italy.The benefits of combining data from across Europe, from different populations and countries are described by the uses to which these data can be put. These uses include:. surveillance of anomalies at a local, regional or pan-European level...
October 2018: Journal of Community Genetics
Hannah Blencowe, Sowmiya Moorthie, Matthew W Darlison, Stephen Gibbons, Bernadette Modell
In the absence of intervention, early-onset congenital disorders lead to pregnancy loss, early death, or disability. Currently, lack of epidemiological data from many settings limits the understanding of the burden of these conditions, thus impeding health planning, policy-making, and commensurate resource allocation. The Modell Global Database of Congenital Disorders (MGDb) seeks to meet this need by combining general biological principles with observational and demographic data, to generate estimates of the burden of congenital disorders...
October 2018: Journal of Community Genetics
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