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Journal of Community Genetics

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https://www.readbyqxmd.com/read/29736796/eurocat-an-update-on-its-functions-and-activities
#1
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
https://www.readbyqxmd.com/read/29713893/property-and-human-genetic-information
#2
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
https://www.readbyqxmd.com/read/29700759/primary-care-providers-lived-experiences-of-genetics-in-practice
#3
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
https://www.readbyqxmd.com/read/29589204/new-literacy-challenge-for-the-twenty-first-century-genetic-knowledge-is-poor-even-among-well-educated
#4
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
https://www.readbyqxmd.com/read/29549604/methods-to-estimate-access-to-care-and-the-effect-of-interventions-on-the-outcomes-of-congenital-disorders
#5
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...
March 17, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29508368/clinicians-use-of-breast-cancer-risk-assessment-tools-according-to-their-perceived-importance-of-breast-cancer-risk-factors-an-international-survey
#6
Anne Brédart, Jean-Luc Kop, Antonis C Antoniou, Alex P Cunningham, Antoine De Pauw, Marc Tischkowitz, Hans Ehrencrona, Marjanka K Schmidt, Sylvie Dolbeault, Kerstin Rhiem, Douglas F Easton, Peter Devilee, Dominique Stoppa-Lyonnet, Rita Schmutlzer
The BOADICEA breast cancer (BC) risk assessment model and its associated Web Application v3 (BWA) tool are being extended to incorporate additional genetic and non-genetic BC risk factors. From an online survey through the BOADICEA website and UK, Dutch, French and Swedish national genetic societies, we explored the relationships between the usage frequencies of the BWA and six other common BC risk assessment tools and respondents' perceived importance of BC risk factors. Respondents (N = 443) varied in age, country and clinical seniority but comprised mainly genetics health professionals (82%) and BWA users (93%)...
March 5, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29508367/evaluating-and-improving-the-implementation-of-a-community-based-hereditary-cancer-screening-program
#7
Samantha Greenberg, Beverly M Yashar, Mark Pearlman, Deb Duquette, Kara Milliron, Monica Marvin
Healthcare disparities exist in the provision of cancer genetic services including genetic counseling and testing related to BRCA1/2 mutations. To address this in a community health setting a screening tool was created to identify high-risk women. This study evaluates the implementation of the tool and identifies opportunities for improved cancer genetic screening, including regular clinician education. A mixed-method approach was used to evaluate clinician utilization of the screening tool at Planned Parenthood affiliates...
March 5, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29504050/coming-to-terms-with-the-imperfectly-normal-child-attitudes-of-israeli-parents-of-screen-positive-infants-regarding-subsequent-prenatal-diagnosis
#8
Aviad E Raz, Yael Amano, Stefan Timmermans
This study examines the interface between newborn screening and prenatal diagnosis from the point-of-view of parents of screen-positive children. Many conditions covered by newborn screening represent classic (autosomal recessive) Mendelian disorders. Parents of screen-positive infants therefore often come to learn that they are carriers of the disease, and face a decision whether to test for it in future pregnancies. Semi-structured interviews were conducted in 2015-2017 with 34 Israeli parents whose child was screen positive...
March 5, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29500624/an-internet-support-group-for-parents-of-children-with-neurofibromatosis-type-1-a-qualitative-analysis
#9
Staci Martin, Kari L Struemph, Alyssa Poblete, Mary Anne Toledo-Tamula, Robin Lockridge, Marie Claire Roderick, Pamela Wolters
Parents of children with neurofibromatosis type 1 (NF1), a rare genetic condition, are at risk for emotional distress. While they may benefit from support groups, they may find it difficult to access support. We conducted an 8-week Internet support group (ISG) with 33 parents (29 mothers, 4 fathers) of children with NF1. Transcripts were evaluated using inductive thematic analysis to determine parental needs and concerns; a process and content theme were identified, with each containing codes and subcodes. In terms of process, parents utilized the ISG to seek out information, share information and experiences, and provide and receive emotional support...
March 2, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29470710/risk-stratification-genomic-data-and-the-law
#10
REVIEW
Alison Hall, Thomas Finnegan, Susmita Chowdhury, Tom Dent, Mark Kroese, Hilary Burton
Risk prediction models have a key role in stratified disease prevention, and the incorporation of genomic data into these models promises more effective personalisation. Although the clinical utility of incorporating genomic data into risk prediction tools is increasingly compelling, at least for some applications and disease types, the legal and regulatory implications have not been examined and have been overshadowed by discussions about clinical and scientific utility and feasibility. We held a workshop to explore relevant legal and regulatory perspectives from four EU Member States: France, Germany, the Netherlands and the UK...
February 22, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29363051/desiderata-for-digital-consent-in-genomic-research
#11
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
https://www.readbyqxmd.com/read/29392580/reproductive-decision-making-interviews-with-mothers-of-children-with-undiagnosed-developmental-delay
#12
Emily Pond, Rebecca Dimond
Reproductive decision making is complex and personal. Having a child with undiagnosed developmental delay can further complicate these decisions, as recurrence risks are unknown. This qualitative study is an exploration of the experiences of parents who have a child with an undiagnosed developmental disorder, focusing on their reproductive decisions. The aims of the research were to explore the reproductive decision making process and examine the factors that influence these decisions. Data were collected from in-depth semi-structured interviews with five mothers of children without a diagnosis...
February 1, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29340884/-i-would-like-to-discuss-it-further-with-an-expert-a-focus-group-study-of-finnish-adults-perspectives-on-genetic-secondary-findings
#13
M Vornanen, K Aktan-Collan, N Hallowell, H Konttinen, H Kääriäinen, A Haukkala
Lowered costs of genomic sequencing facilitate analyzing large segments of genetic data. Ethical debate has focused on whether and what kind of incidental or secondary findings (SFs) to report, and how to obtain valid informed consent. However, people's support needs after receiving SFs have received less attention. We explored Finnish adults' perspectives on reporting genetic SFs. In this qualitative study which included four focus group discussions (N = 23) we used four vignette letters, each reporting a genetic SF predisposing to a different disease: familial hypercholesterolemia, long QT syndrome, Lynch syndrome, and Li-Fraumeni syndrome...
January 16, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29308542/experience-of-asian-males-communicating-cardiac-genetic-risk-within-the-family
#14
Sylvia Kam, Yasmin Bylstra, Laura Forrest, Ivan Macciocca, Roger Foo
The genetic nature of an inherited cardiac condition (ICC) places first- and second-degree relatives at risk of cardiac complications and sudden death, even in the absence of symptoms. Communication of cardiac genetic risk information allows at-risk relatives to clarify, manage, and potentially prevent ICC-associated risks through cardiac screening. Literature regarding family communication of genetic risk information are predominantly based on Western populations, with limited insight into the Asian experience...
January 8, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29294252/correction-to-behavioural-changes-sharing-behaviour-and-psychological-responses-after-receiving-direct-to-consumer-genetic-test-results-a-systematic-review-and-meta-analysis
#15
Kelly F J Stewart, Anke Wesselius, Maartje A C Schreurs, Annemie M W J Schols, Maurice P Zeegers
The published online version contains mistake in the Abstract section. The percentages for 'any positive lifestyle change' and 'improved dietary practices' have unintentionally been incorrectly reported.
January 2, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29052096/life-paths-of-patients-with-transthyretin-related-familial-amyloid-polyneuropathy-val30met-a-descriptive-study
#16
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...
January 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29032468/the-m2-haplotype-of-anxa5-gene-in-the-context-of-unexplained-recurrent-miscarriages
#17
LETTER
Arseni Markoff, Nadja Bogdanova
No abstract text is available yet for this article.
January 2018: 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
#18
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...
January 2018: 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
#19
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...
January 2018: 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
#20
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...
January 2018: Journal of Community Genetics
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