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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...
March 17, 2018: Journal of Community Genetics
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
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
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
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
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
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
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)...
January 23, 2018: Journal of Community Genetics
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
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
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
Lauren Puryear, Natalie Downs, Andrea Nevedal, Eleanor T Lewis, Kelly E Ormond, Maria Bregendahl, Carlos J Suarez, Sean P David, Steven Charlap, Isabella Chu, Steven M Asch, Neda Pakdaman, Sang-Ick Chang, Mark R Cullen, Latha Palaniappan
While genetic testing gains adoption in specialty services such as oncology, neurology, and cardiology, use of genetic and genomic testing has yet to be adopted as widely in primary care. The purpose of this study is to identify and compare patient and primary care provider (PCP) expectations of genetics services in primary care. Patient and PCP perspectives were assessed through a mixed-method approach combining an online survey and semi-structured interviews in a primary care department of a large academic medical institution...
December 27, 2017: Journal of Community Genetics
Duaa Ibrahim Olwi, Leena Adnan Merdad, Eman Kamal Ramadan
Thalassemia is a life-threatening blood disorder that has a high prevalence in Saudi Arabia despite the implementation of mandatory premarital testing and the availability of genetic counseling. This study aimed to assess college students' knowledge of thalassemia. A cross-sectional survey of a random sample of 920 senior students enrolled at King Abdulaziz University was conducted. A self-administered questionnaire was used to collect information about thalassemia and socio-demographic characteristics. Of the 920 students, 445 (48%) had ever heard of thalassemia...
December 14, 2017: Journal of Community Genetics
Janice Ka Yan Cheng, Claudia Guerra, Rena J Pasick, Dean Schillinger, Judith Luce, Galen Joseph
As genetics and genomics become part of mainstream medicine, these advances have the potential to either reduce or exacerbate health disparities. Relatively, little research has explored the quality of genetic counseling communication experienced by limited English proficiency patients, especially Chinese Americans. We observed and audio recorded genetic counseling appointments (n = 40) of low-income, limited English-proficient Chinese patients (n = 25) and conducted post-visit interviews (n = 17) using stimulated recall to examine patient understanding of the communication...
December 1, 2017: Journal of Community Genetics
Thomas M Roston, Laura Dewar, Sonia Franciosi, Julie Hathaway, Kirsten Bartels, Taylor Cunningham, Karen A Gibbs, Sam Sheps, Zachary W M Laksman, Shubhayan Sanatani, Andrew D Krahn
The genetic basis of many sudden death-related conditions has been elucidated. These include inherited arrhythmias and arrhythmogenic cardiomyopathies, termed inherited heart rhythm disorders (IHRD). Advising on and interpreting genetic testing is challenging for the general cardiologist. This has led to the development of interdisciplinary clinics for IHRD in varying stages of establishment in Canada. We sought the viewpoints and patterns of practice of Canadian IHRD experts, and assessed their ability to access genetic testing for IHRD using a national cross-sectional survey...
November 23, 2017: Journal of Community Genetics
A Dearing, N Taverner
Palliative healthcare professionals (PHCPs) frequently do not refer their eligible patients for genetic testing. After the death of the affected individual, clinically relevant information for family members is lost. In previous research, PHCPs stated that the end-of-life setting is not appropriate to discuss genetic issues. It is unclear if this has changed due to increasing awareness of genetics in the media and efforts to mainstream genetic testing. Semi-structured interviews of PHCPs were analysed by thematic analysis...
November 20, 2017: Journal of Community Genetics
Huma Q Rana, Sarah R Cochrane, Elaine Hiller, Ruth N Akindele, Callie M Nibecker, Ludmila A Svoboda, Angel M Cronin, Judy E Garber, Christopher S Lathan
In cancer genetics, technological advances (next generation sequencing) and the expansion of genetic test options have resulted in lowered costs and increased access to genetic testing. Despite this, the majority of patients utilizing cancer genetics services lack diversity of gender, ethnicity, and socioeconomic status. Through retrospective chart review, we compared outcomes of cancer genetics consultations at a tertiary cancer center and a Federally Qualified Health Center (FQHC) (58 tertiary and 23 FQHC patients) from 2013 to 2015...
November 18, 2017: 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...
November 18, 2017: Journal of Community Genetics
P Sharafi, B Anlar, S Ersoy-Evans, A Varan, O F Yılmaz, M Turan, S Ayter
Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, and its clinical presentations are highly variable. NF1 is caused by mutations in the NF1 gene, and 50% of NF1 cases are sporadic, which occur in the absence of a family history of the disease and usually result from a new mutation in the germline of a parent. Advanced paternal age may increase the risk for germinal NF1 mutations; however, some dominant conditions, including neurofibromatosis, have shown a lesser association with paternal age, although there are conflicting reports in the literature...
November 15, 2017: Journal of Community Genetics
K M Broady, K E Ormond, E J Topol, N J Schork, Cinnamon S Bloss
This study aimed to identify predictors of adverse psychological experiences among direct-to-consumer (DTC) genomic test consumers. We performed a secondary analysis on data from the Scripps Genomic Health Initiative (SGHI), which studied 2037 individuals tested with commercially available tests yielding personalized risk estimates for 23 common, genetically complex diseases. As part of the original study, the participants completed baseline and follow-up survey measures assessing demographics, personal and family health history, attitudes toward genetic testing, anxiety (State-Trait Anxiety Inventory (STAI)), test-related distress (Impact of Event Scale-Revised (IES-R)), and reactions to receipt of results...
November 13, 2017: Journal of Community Genetics
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