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Journal of Community Genetics

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https://www.readbyqxmd.com/read/30229538/congenital-disorders-epidemiological-methods-for-answering-calls-for-action
#1
EDITORIAL
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.
September 19, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/30229537/direct-to-consumer-carrier-screening-for-cystic-fibrosis-via-a-hospital-website-a-6-year-evaluation
#2
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
https://www.readbyqxmd.com/read/30229536/value-of-sharing-and-networking-among-birth-defects-surveillance-programs-an-icbdsr-perspective
#3
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...
September 18, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/30218347/estimating-the-birth-prevalence-and-pregnancy-outcomes-of-congenital-malformations-worldwide
#4
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...
September 14, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/30209753/historical-overview-of-development-in-methods-to-estimate-burden-of-disease-due-to-congenital-disorders
#5
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...
September 12, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/30209752/information-exchange-between-patients-with-lynch-syndrome-and-their-genetic-and-non-genetic-health-professionals-whose-responsibility
#6
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
https://www.readbyqxmd.com/read/30206796/barriers-to-the-identification-of-familial-hypercholesterolemia-among-primary-care-providers
#7
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
https://www.readbyqxmd.com/read/30187387/exploring-the-perceived-self-efficacy-of-genetic-counselors-as-teachers
#8
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
https://www.readbyqxmd.com/read/30171451/family-health-history-and-genetic-services-the-east-baltimore-community-stakeholder-interview-project
#9
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
https://www.readbyqxmd.com/read/30121752/disclosure-of-diagnosis-to-at-risk-relatives-by-individuals-diagnosed-with-hypertrophic-cardiomyopathy-hcm
#10
Janella Hudson, Amy C Sturm, Lisa Salberg, Simone Brennan, Gwendolyn P Quinn, Susan T Vadaparampil
Hypertrophic cardiomyopathy (HCM) affects 1 in 200 people and is the most common cause of sudden cardiac death in the young. Given that HCM usually is inherited in an autosomal dominant pattern, an HCM diagnosis has implications for biologically related family members. The purpose of this study was to explore probands' disclosure of an HCM diagnosis with these biologically related, at-risk family members. An online survey was posted on the website of the Hypertrophic Cardiomyopathy Association (HCMA), an advocacy and support group for HCM patients and their families...
August 18, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/30109643/rare-single-gene-disorders-estimating-baseline-prevalence-and-outcomes-worldwide
#11
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...
August 14, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/30097836/high-risk-women-s-risk-perception-after-receiving-personalized-polygenic-breast-cancer-risk-information
#12
Laura Elenor Forrest, Sarah Dilys Sawyer, Nina Hallowell, Paul Andrew James, Mary-Anne Young
Evidence is accumulating of the clinical utility of single nucleotide polymorphisms to effectively stratify risk of breast cancer. Yet for this personalized polygenic information to be translated to clinical practice, consideration is needed about how this personalized risk information should be communicated and the impact on risk perception. This study examined the psychosocial implications and the impact on risk perception of communicating personalized polygenic breast cancer risk to high-risk women. High-risk women with a personal history of breast cancer and an uninformative BRCA1/2 result were genotyped in the Variants in Practice study for 22 breast cancer single nucleotide polymorphisms...
August 10, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/30027524/experiences-of-patients-seeking-to-participate-in-variant-of-uncertain-significance-reclassification-research
#13
Sukh Makhnoon, Lauren Thomas Garrett, Wylie Burke, Deborah J Bowen, Brian H Shirts
Patients' understanding of a genetic variant of unknown clinical significance (VUS) is likely to influence beliefs about risk implications, consequent medical decisions, and other actions such as involvement in research. We interviewed 26 self-selected participants with a clinically identified VUS before they enrolled into a VUS reclassification study. Semi-structured interviews addressed topics including motivation to get genetic test, experience with the VUS result, affective responses to receiving VUS, and perceived effect of VUS and reclassification on medical care...
July 19, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29974402/usefulness-of-fragile-x-checklist-and-cgg-distribution-in-specialized-institutions-in-kinshasa-dr-congo
#14
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
https://www.readbyqxmd.com/read/29500624/an-internet-support-group-for-parents-of-children-with-neurofibromatosis-type-1-a-qualitative-analysis
#15
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...
July 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29470710/risk-stratification-genomic-data-and-the-law
#16
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...
July 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29392580/reproductive-decision-making-interviews-with-mothers-of-children-with-undiagnosed-developmental-delay
#17
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...
July 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
#18
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...
July 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29308542/experience-of-asian-males-communicating-cardiac-genetic-risk-within-the-family
#19
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...
July 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29280052/patient-and-provider-perspectives-on-the-development-of-personalized-medicine-a-mixed-methods-approach
#20
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...
July 2018: Journal of Community Genetics
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