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Journal of Community Genetics

Aimé Lumaka, Toni Kasole Lubala, Valérie Race, Hilde Peeters, Prosper Lukusa, Koenraad Devriendt
Screening for fragile X syndrome (FXS) is essential in children with developmental delay or intellectual disability (ID). In addition, using clinical screening checklists remains of high interest in resource-limited settings. We aimed to gain insight into the prevalence of FXS and the distribution of CGG alleles and to evaluate the usefulness of three checklists in specialized institutions in Kinshasa, DR Congo. We recruited 80 males and 25 females from six specialized institutions in Kinshasa and administered a questionnaire comprising items from the following FXS checklists: Hagerman, Maes, and Guruju...
July 4, 2018: Journal of Community Genetics
Eva Maria Cutiongco-de la Paz, Melquiadesa Pedro, Talitha Karisse L Yarza, Sheryl Mae Lagrana-Villagracia, Abegail Jayne P Amoranto, Edbert Jasper M Jover, Ma Theresa B Domine, Charlotte M Chiong, Regie Lyn P Santos-Cortez
In this report, we describe the knowledge and beliefs on causes and management of otitis media of an indigenous Filipino community with a high prevalence of otitis media that is associated with an A2ML1 variant. Community lectures and individual genetic counseling were provided as intervention. Knowledge, beliefs, and health care-seeking behavior pertaining to otitis media were assessed pre- and post-genetic counseling. Twenty-five heads of households were interviewed. Beliefs regarding etiology of ear discharge varied widely, with swimming in the sea as the most commonly cited cause of ear discharge...
June 15, 2018: Journal of Community Genetics
Kelly E Ormond, Joerg Schmidtke
No abstract text is available yet for this article.
June 14, 2018: Journal of Community Genetics
Angus J Clarke, Carina Wallgren-Pettersson
Difficult ethical issues arise for patients and professionals in medical genetics, and often relate to the patient's family or their social context. Tackling these issues requires sensitivity to nuances of communication and a commitment to clarity and consistency. It also benefits from an awareness of different approaches to ethical theory. Many of the ethical problems encountered in genetics relate to tensions between the wishes or interests of different people, sometimes even people who do not (yet) exist or exist as embryos, either in an established pregnancy or in vitro...
June 14, 2018: Journal of Community Genetics
Karen Forrest Keenan, Robert M Finnie, William G Simpson, Lorna McKee, John Dean, Zosia Miedzybrodzka
Familial hypercholesterolemia (FH) is a serious inherited disorder, which greatly increases individuals' risk of cardiovascular disease (CVD) in adult life. However, medical treatment and lifestyle adjustments can fully restore life expectancy. Whilst European guidance advises that where there is a known family mutation genetic testing is undertaken in early childhood, the majority of the at-risk population remain untested and undiagnosed. To date, only a small number of studies have explored parents' and children's experiences of testing and treatment for FH, and little is known about interactions between health professionals, parents, and children in clinic settings...
June 14, 2018: Journal of Community Genetics
Gabriela Costa Cardoso, Marcelo Zagonel de Oliveira, Vanessa Rodrigues Paixão-Côrtes, Eduardo Enrique Castilla, Lavínia Schuler-Faccini
The aim of this paper is to present a database of isolated communities (CENISO) with high prevalence of genetic disorders or congenital anomalies in Brazil. We used two strategies to identify such communities: (1) a systematic literature review and (2) a "rumor strategy" based on anecdotal accounts. All rumors and reports were validated in a stepwise process. The bibliographical search identified 34 rumors and 245 rumors through the rumor strategy, and 144 were confirmed. A database like this one presented here represents an important tool for the planning of health priorities for rare diseases in low- and middle-income countries with large populations...
June 2, 2018: Journal of Community Genetics
Caren J Frost, Irene L Andrulis, Saundra S Buys, John L Hopper, Esther M John, Mary Beth Terry, Angela Bradbury, Wendy K Chung, Katherine Colbath, Natalie Quintana, Elizabeth Gamarra, Brian Egleston, Nina Galpern, Lisa Bealin, Gord Glendon, Linda Patrick Miller, Mary B Daly
The Human Genome Project and the continuing advances in DNA sequencing technology have ushered in a new era in genomic medicine. Successful translation of genomic medicine into clinical care will require that providers of this information are aware of the level of understanding, attitudes, perceived risks, benefits, and concerns of their patients. We used a mixed methods approach to conduct in-depth interviews with participants in the NCI-funded Breast Cancer Family Registry (BCFR). Our goal was to gain a better understanding of attitudes towards different types and amounts of genomic information, current interest in pursuing genomic testing, and perceived risks and benefits...
May 26, 2018: Journal of Community Genetics
Ambreen Sayani
The Ontario Breast Screening Program for women with a genetic predisposition to breast cancer is one of the first international models of a government-funded public health service that offers systematic genetic screening to women at a high risk of breast cancer. However, since the implementation of the program in 2011, enrolment rates have been lower than anticipated. Whilst there may be several reasons for this to happen, it does call into consideration the 'inverse equity law', whereby the more advantaged in society are the first to participate and benefit from universal health services...
May 20, 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...
May 7, 2018: Journal of Community Genetics
Morten Ebbe Juul Nielsen, Nana Cecilie Halmsted Kongsholm, Jens Schovsbo
Do donors (of samples from which genetic information is derived) have some sort of pre-legal (moral) or legal property right to that information? In this paper, we address this question from both a moral philosophical and a legal point of view. We argue that philosophical theories about property do not seem to support a positive answer: We have not mixed our labour with our genes, and the human genome cannot be said to be a fitting object for private ownership based on some idea of self-ownership. An analysis of the term 'property' as seen from a legal perspective yields the conclusion that property is, at best, a linguistic prop whose real content has to be defined at least partially conventionally...
April 30, 2018: Journal of Community Genetics
Brittany Harding, Colleen Webber, Lucia Ruhland, Nancy Dalgarno, Christine M Armour, Richard Birtwhistle, Glenn Brown, June C Carroll, Michael Flavin, Susan Phillips, Jennifer J MacKenzie
To effectively translate genetic advances into practice, engagement of primary care providers (PCPs) is essential. Using a qualitative, phenomenological methodology, we analyzed key informant interviews and focus groups designed to explore perspectives of urban and rural PCPs. PCPs endorsed a responsibility to integrate genetics into their practices and expected advances in genetic medicine to expand. However, PCPs reported limited knowledge and difficulties accessing resources, experts, and continuing education...
April 26, 2018: Journal of Community Genetics
Carlos Luis Parra-Calderón, Jane Kaye, Alberto Moreno-Conde, Harriet Teare, Francisco Nuñez-Benjumea
Herein, we describe the characterization of a Digital Consent (DC) System to support current ethical-legal issues associated with challenges posed by informed consent for genomic research. A potential solution to support ongoing interaction with patients and allow control over how their data and samples are being used in genomic research can be Digital Consent based. But there are other challenges that need to be addressed, such as incidental findings when analyzing the results of genomic tests (not expected)...
April 2018: Journal of Community Genetics
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...
April 2018: Journal of Community Genetics
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...
April 2018: Journal of Community Genetics
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...
April 2018: Journal of Community Genetics
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...
April 2018: Journal of Community Genetics
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...
April 2018: Journal of Community Genetics
Emilia Niemiec, Danya F Vears, Pascal Borry, Heidi Carmen Howard
Whole-exome and whole-genome sequencing (WES, WGS) can generate an unprecedented amount of complex information, making the informed consent (IC) process challenging. The aim of our study was to assess the readability of English IC forms for clinical whole-exome and whole-genome sequencing using the SMOG and Flesch-Kincaid formulas. We analysed 36 forms, most of which were from US providers. The median readability grade levels were 14.75 (the SMOG formula) and 12.2 (the Flesch-Kincaid formula); these values indicate the years of education after which a person would be able to understand a text studied...
April 2018: Journal of Community Genetics
Danya F Vears, Flavio D'Abramo
The field of epigenetics is leading to new conceptualizations of the role of environmental factors in health and genetic disease. Although more evidence is required, epigenetic mechanisms are being implicated in the link between low socioeconomic status and poor health status. Epigenetic phenomena work in a number of ways: they can be established early in development, transmitted from previous generations and/or responsive to environmental factors. Knowledge about these types of epigenetic traits might therefore allow us to move away from a genetic deterministic perspective, and provide individuals with the opportunity to change their health status...
April 2018: Journal of Community Genetics
Robert Chapman, Maxim Likhanov, Fatos Selita, Ilya Zakharov, Emily Smith-Woolley, Yulia Kovas
We live in an age of rapidly advancing genetic research. This research is generating new knowledge that has implications for personal health and well-being. The present study assessed the level of genetic knowledge and personal engagement with genetics in a large sample (N = 5404) of participants. Participants received secondary education in 78 countries, with the largest samples from Russia, the UK and the USA. The results showed significant group differences in genetic knowledge between different countries, professions, education levels and religious affiliations...
March 28, 2018: Journal of Community Genetics
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