Correction to: Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience
The article“Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience”, written by Sukrit Suwannachat, Duangrurdee Wattanasirichaigoon, Jiraporn Arunakul, Vilawan Chirdkiatgumchai and Thipwimol Tim-Aroon, was originally published electronically on the publisher ’s internet portal (currently SpringerLink) on September 2019 without open access. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - November 19, 2019 Category: Genetics & Stem Cells Source Type: research

Determining accurate costs for genomic sequencing technologies —a necessary prerequisite
This article addresses the importance of and challenges associated with costing GS using a GS microcosting project in autism spectrum disorder as an illustrative example. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - November 15, 2019 Category: Genetics & Stem Cells Source Type: research

A framework for youth-friendly genetic counseling
AbstractYoung people represent a unique cohort in the context of both healthcare and genetic risk. Genetic counselors have long recognized and documented the challenges of working with young people and their families compared with working with older adults. Challenges for health professionals include engagement with the young person, communication, developmentally appropriate psychosocial assessment, and working with the young person and their family. Likewise, young people also report experiencing challenges within the genetic counseling process. In response to these challenges, and increasing numbers of young people pres...
Source: Journal of Community Genetics - November 5, 2019 Category: Genetics & Stem Cells Source Type: research

Survey of primary care physicians ’ views about breast and ovarian cancer screening for true BRCA1/2 non-carriers
This study aimed to describe breast and ovarian cancer screening recommendations that primary care physicians would consider advisable for young trueBRCA1/2 non-carriers. One hundred thirty-four family physicians and 123 gynecologists (response rate 45%) completed a cross-sectional mailed survey administered in the Province of Quebec, Canada. The survey included questions about basic genetic knowledge and screening recommendations for two fictitious cases (
Source: Journal of Community Genetics - October 28, 2019 Category: Genetics & Stem Cells Source Type: research

Exploring Asian Indian views about cancer and participation in cancer research: an evaluation of a culturally tailored educational intervention
AbstractAsian Indians (AIs) are a growing population in the United States (US) with increased cancer incidence and mortality. However, screening rates among this population are low, and the population has been underrepresented in clinical research. This pilot study aims to address gaps in the literature in order to understand if a culturally tailored educational intervention will improve knowledge, risk perceptions, and awareness of cancer risk assessments among AIs. We delivered an educational intervention comprised of culturally tailored case studies describing risk factors for developing cancer in both males and females...
Source: Journal of Community Genetics - September 14, 2019 Category: Genetics & Stem Cells Source Type: research

Human genome editing and the identity politics of genetic disability
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - September 6, 2019 Category: Genetics & Stem Cells Source Type: research

Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience
AbstractLittle is known about disclosure of diagnosis to males with Klinefelter syndrome (KS) diagnosed before birth or during childhood, especially in Asian context. Insufficient preparation for disclosure communication could lead to the child ’s depression, anxiety, or disrupted self-esteem. This is an interventional and qualitative interview study with a brief self-reported survey. The study consists of three phases. In phase I, adults with KS were asked about their experiences and viewpoints toward KS disclosure and diagnosis through individual interviews. In phase II, unaffected adolescent males were given infor...
Source: Journal of Community Genetics - September 4, 2019 Category: Genetics & Stem Cells Source Type: research

Patients ’ views on variants of uncertain significance across indications
AbstractAs genomic sequencing expands into more areas of patient care, an increasing number of patients learn of the variants of uncertain significance (VUSs) that they carry. Understanding the potential psychosocial consequences of the disclosure of a VUS can help inform pre- and post-test counseling discussions. Medical uncertainty in general elicits a variety of responses from patients, particularly in the growing field of medical genetics and genomics. It is important to consider patients ’ responses to the ambiguous nature of VUSs across different indications and situational contexts. Genetic counselors and othe...
Source: Journal of Community Genetics - August 20, 2019 Category: Genetics & Stem Cells Source Type: research

Human germline genome editing is illegal in Canada, but could it be desirable for some members of the rare disease community?
AbstractHuman germline genome editing may prove to be especially poignant for members of the rare disease community, many of whom are diagnosed with monogenic diseases. This community lacks broad representation in the literature surrounding genome editing, notably in Canada, yet is likely to be directly affected by eventual clinical applications of this technology. Although not generalizable, the literature does offer some commonalities regarding the experiences of rare disease patients. This manuscript seeks to contribute to the search for broader societal dialogue surrounding human germline genome editing by exploring so...
Source: Journal of Community Genetics - August 16, 2019 Category: Genetics & Stem Cells Source Type: research

Consanguinity and genetic diseases among the Bedouin population in the Negev
AbstractArab Bedouins (AB) in Israel are traditionally a semi-nomadic population. Their average birth rate is extremely high (birth rate of 5.43, as well is their high consanguinity rate (44%), despite having decreased from 60% in 1992. Additionally, their mean inbreeding coefficient is 0.0238.The high rate of consanguinity results in a high prevalence of recessive genetic and multifactorial disorders as well as high infant mortality rate (11 per 1000 live births). Various genetic diseases are prevalent in AB, exemplifying how extensive the impact of consanguinity is on the community. Targeted screening programs are provid...
Source: Journal of Community Genetics - August 2, 2019 Category: Genetics & Stem Cells Source Type: research

Population structure and inherited genetic disorders in the Bedouin of the Negev
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - July 25, 2019 Category: Genetics & Stem Cells Source Type: research

Correction to: Clinicians ’ use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey
The published online version contains mistake in author list. The correct presentation of the name Rita Schmutlzer isRita Schmutzler. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - July 22, 2019 Category: Genetics & Stem Cells Source Type: research

Exploring perceptions of consanguineous unions with women from an East London community: analysis of discussion groups
This study explores the perceptions of consanguineous unions and risk of childhood disability and illness through the reported views and experiences of women in an ethnically diverse London community. This qualitative study utilised group discussions to elicit women ’s views and experiences. Field notes were recorded by independent note-takers in four group discussions. Field notes were coded manually and independently by two researchers who identified common themes for thematic analysis. Thirty-six women attended, of whom 20 identified as Asian Pakistani. Id entified themes included variation in participants’ ...
Source: Journal of Community Genetics - July 16, 2019 Category: Genetics & Stem Cells Source Type: research

Allocating healthcare resources to genomic testing in Canada: latest evidence and current challenges
AbstractPrecision medicine (PM) informed by next-generation sequencing (NGS) poses challenges for health technology assessment (HTA). To date, there has been limited reimbursement of genomic testing with NGS in Canada, particularly for whole-genome and whole-exome sequencing (WGS/WES). Through a structured literature review, we examine Canadian economic evidence and evidentiary challenges for the adoption of genomic testing. We searched Medline (PubMed) for published Canadian studies generating economic evidence for PM informed by NGS. Our search focused on studies examining the costs and/or value of NGS. We reviewed inclu...
Source: Journal of Community Genetics - July 5, 2019 Category: Genetics & Stem Cells Source Type: research

Applying theory to characterize impediments to dissemination of community-facing family health history tools: a review of the literature
AbstractUptake of community-facing family health history (FHH) tools to identify those at highest risk of disease and target prevention efforts has been consistently low. This review uses the diffusion of innovations (DOI) as a framework to organize the FHH evidence base and identify potential strategies to improve uptake of community-facing FHH tools. Methods for this literature review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. We completed systematic searches in PubMed, Embase, and Web of Science databases for studies from 2009 to 2017 and hand searched bibliographies of r...
Source: Journal of Community Genetics - July 2, 2019 Category: Genetics & Stem Cells Source Type: research

Genetic counseling of patients with ovarian carcinoma: acceptance, timing, and psychological wellbeing
AbstractThe new Dutch guidelines on hereditary and familial ovarian carcinoma recommend genetic testing of all patients with epithelial ovarian cancer (EOC). With this study, we aimed to obtain insight into (1) the acceptance and timing of the offer of genetic counseling in women with EOC, (2) reasons for accepting or declining genetic counseling, and (3) psychological differences between women who did and did not have genetic counseling. A multicenter questionnaire survey was performed in patients with EOC in four Dutch oncology centers. The questionnaire addressed whether, how, and when genetic counseling was offered, wo...
Source: Journal of Community Genetics - June 5, 2019 Category: Genetics & Stem Cells Source Type: research

Developing a national certification pathway for genetic counselors in Sweden —a short report
We report here an individual educational pathway leading up to eligibility for certification as a genetic couns elor in Sweden. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - June 1, 2019 Category: Genetics & Stem Cells Source Type: research

Co-creating a knowledge base in the “22q11.2 deletion syndrome” community
Abstract22q11.2 DS is characterised by its variability, rarity and variety of features ranging from congenital heart conditions to psychiatric and behavioural issues. As a result, health information –seeking behaviour is different from other more common conditions. An exploratory study was carried out to understand how parents access information and support, and how that information is shared. Qualitative interviews were carried out with families and support group representatives, and themati c analysis was applied. Four main themes emerged from our findings: perceptions of clinical expertise, parent empowerment, sup...
Source: Journal of Community Genetics - May 25, 2019 Category: Genetics & Stem Cells Source Type: research

Developing a culturally targeted video to enhance the use of genetic counseling in Latina women at increased risk for hereditary breast and ovarian cancer
AbstractDisparities for genetic cancer risk assessment (GCRA) for hereditary breast and ovarian cancer (HBOC) persist between Latina and non-Hispanic Whites. There are few tested culturally targeted interventions. We developed a culturally targeted video to enhance GCRA uptake in at-risk Latinas. Interviews with healthcare providers (n = 20) and at-risk Latinas (n = 20) were conducted as formative research to inform the development of the video. Findings from the formative research, health behavior conceptual models, and evidence-based risk communication strategies informed the messages for the ...
Source: Journal of Community Genetics - May 18, 2019 Category: Genetics & Stem Cells Source Type: research

Attitudes and experiences regarding genetic research among persons of African descent
This study examined the attitudes, experiences, and willingness of persons of African descent related to participation in genetic research. A total of 272 persons of African descent completed a questionnaire about attitudes and experiences associated with genetic research. Descriptive, Chi-square, and logistic regression were used to examine the impact of attitudes and experiences in predicting the odds of willingness to participate in genetic research. A majority of participants (97%) indicated that they have never participated in genetic research; however, a majority also reported that they would be willing to participat...
Source: Journal of Community Genetics - May 6, 2019 Category: Genetics & Stem Cells Source Type: research

Effectiveness of interventions to identify and manage patients with familial cancer risk in primary care: a systematic review
AbstractThis systematic review evaluated the effectiveness of strategies to identify and manage patients with familial risk of breast, ovarian, colorectal and prostate cancer in primary care to improve clinical outcomes. MEDLINE, EMBASE, CINAHL and Cochrane library were searched from January 1980 to October 2017. We included randomised controlled trials (RCT) and non-randomised studies of interventions (NRSI). Primary outcomes were cancer incidence, cancer-related clinical outcomes or the identification of cancer predisposition; secondary outcomes were the appropriateness of referral, uptake of preventive strategies and co...
Source: Journal of Community Genetics - May 6, 2019 Category: Genetics & Stem Cells Source Type: research

Improving access to cancer genetic services: perspectives of high-risk clients in a community-based setting
AbstractCancer genetic services are underutilized by high-risk clients in community-based health settings. To understand this disparity, 108 Planned Parenthood high-risk clients completed a utilization-focused survey. Clients expressed interest (78.8%) and intention (75.0%) in seeking genetic services. Personal/familial implications for cancer risk were the strongest motivators for seeking services (63.0 –79.6%). Finances (39.6%) and worry (37.0%) were the biggest barriers. To reduce disparities in access to cancer genetics services, clinicians must understand clients’ concerns and tailor their recommendations....
Source: Journal of Community Genetics - April 24, 2019 Category: Genetics & Stem Cells Source Type: research

Health and lifestyle behaviors in colorectal cancer survivors with and without Lynch syndrome
AbstractLynch syndrome (LS), a hereditary cancer syndrome, accounts for approximately 3% of colorectal cancers (CRC). Positive health behaviors and surveillance are preventive strategies, but research on whether recommended behavioral guidelines are followed by individuals with LS is limited. Additional health education and promotion could be beneficial to the improved survivorship of CRC survivors. Explore health and lifestyle behaviors in CRC survivors with and without LS. We conducted a case-control study of CRC survivors with and without LS using a mailed questionnaire. Recruitment was conducted via patient registries ...
Source: Journal of Community Genetics - April 23, 2019 Category: Genetics & Stem Cells Source Type: research

Improving follow up after predictive testing in Huntington ’s disease: evaluating a genetic counselling narrative group session
AbstractRecently updated Huntington ’s disease (HD) predictive testing guidelines emphasise clinicians’ responsibility to facilitate emotional support following testing, regardless of the result. Yet models of post-test counselling support are poorly defined. Moreover, it is unclear how these might be best delivered. In this proje ct, a genetic counsellor and clinical psychologist developed standalone group sessions using collective narrative practices for individuals post-predictive testing. Here we present an evaluation of the experiences of one group of six people who have tested mutation positive for HD and...
Source: Journal of Community Genetics - April 18, 2019 Category: Genetics & Stem Cells Source Type: research

Linking pre-existing biorepositories for medical research: the PopGen 2.0 Network
We report on the establishment of the PopGen 2.0 Network (P2N), an overarching alliance of initially seven biobanks from Northern Germany whic h adopted a joint but lean governance structure and use-and-access policy for their samples and data. In addition, the members of P2N have pursued an intense collaboration on ethical, legal and social issues and maintain a common IT infrastructure. The implementation of P2N has substantially improve d the prospects of biobank-based research at the participating institutions. The network may thus serve as a role model for similar initiatives geared at linking pre-existing bioreposito...
Source: Journal of Community Genetics - March 29, 2019 Category: Genetics & Stem Cells Source Type: research

Perinatal mortality associated with congenital defects of the central nervous system in Colombia, 2005 –2014
AbstractIn Colombia, congenital anomalies are the second leading cause of death in children aged less than 1  year, and central nervous system (CNS) anomalies are the second most common cause within this group. The aim of the study is to determine the frequency of perinatal mortality attributable to CNS anomalies in Colombia between 2005 and 2014. Using data from the Integral Information System of Social Protection (SISPRO), we determined the perinatal mortality rate associated with CNS anomalies; we also determined frequency of mortality according to age, type of abnormality, year of presentation, and georeferencing....
Source: Journal of Community Genetics - March 29, 2019 Category: Genetics & Stem Cells Source Type: research

Experiences and interpretations of BRCA1/2 testing among women affected by breast or ovarian cancer who received a negative result
AbstractThe aim of this study was to retrospectively describe the genetic testing motives and experiences of women with a previous breast and/or ovarian cancer diagnosis, who received negativeBRCA1/2 results including variants of unknown significance and no pathogenic variant detected. One hundred and thirteen women (mean age 56.17  years) were recruited from a familial cancer centre in metropolitan Australia, an average 3.4 years after undergoing testing. Participants completed a self-report questionnaire focusing on the retrospective experience of and motives for undergoingBRCA1/2 testing. The study found that ...
Source: Journal of Community Genetics - March 27, 2019 Category: Genetics & Stem Cells Source Type: research

Evaluation of the template letter regarding the disclosure of genetic information within the family in France
AbstractThe 2011 French Bioethics Law regarding disclosure of genetic information within families enables health professionals to notify any at-risk relatives directly, with the patient ’s consent, using a template letter. To assess the impact of this template letter in terms of understanding, personal feelings and intent to contact a health professional, we conducted a study interviewing patients, members of the public and genetic professionals. Although the main response to the letter was anxiety, this was associated with good understanding of the content and most individuals mentioned intention to contact a health...
Source: Journal of Community Genetics - March 27, 2019 Category: Genetics & Stem Cells Source Type: research

Does family communication matter? Exploring knowledge of breast cancer genetics in cancer families
AbstractKnowledge of breast cancer genetics is critical for those at increased hereditary risk who must make decisions about breast cancer screening options. This descriptive study explored theory-based relationships among cognitive and emotional variables related to knowledge of breast cancer genetics in cancer families. Participants included first-degree relatives of women with breast cancer who had received genetic counseling and testing. Study participants themselves did not have breast cancer and had not received genetic counseling or testing. Data were collected by telephone interviews and surveys. Variables analyzed...
Source: Journal of Community Genetics - March 15, 2019 Category: Genetics & Stem Cells Source Type: research

Factors associated with willingness to provide biospecimens for genetics research among African American cancer survivors
This study evaluated factors associated with willingness to provide biospecimens for cancer genetic research among African American cancer survivors. A total of 200 African American adults diagnosed with breast, colon, and/or prostate cancers completed a self-administered survey. Family history information, beliefs about cancer research, cancer genetics and disparities knowledge, willingness to provide a biospecimen, and demographics were obtained. Chi-square, independent samplest tests, and logistic regression analyses were performed. Overall, 79% of this sample was willing to provide a biospecimen for cancer genetics res...
Source: Journal of Community Genetics - March 14, 2019 Category: Genetics & Stem Cells Source Type: research

“It would be so much easier”: health system-led genetic risk notification—feasibility and acceptability of cascade screening in an integrated system
AbstractAssess the feasibility and acceptability of health system-led genetic risk notification in a US integrated health system. We conducted semi-structured phone interviews with individuals age 40 –64 years who had undergone genetic sequencing, but had not yet received their results, assessing attitudes to direct outreach to relatives. During each interview, we collected contact information for adult relatives identified as members of the same system and attempted to identify each relative in administrative data. We conducted 20 interviews. Most participants expressed support for Kaiser Permanente Washington ...
Source: Journal of Community Genetics - March 6, 2019 Category: Genetics & Stem Cells Source Type: research

Psychosocial, attitudinal, and demographic correlates of cancer-related germline genetic testing in the 2017 Health Information National Trends Survey
AbstractThe study objective was to examine bivariate and multivariate associations among worry, perceptions, attitudes, sociodemographics, and uptake of cancer-related germline genetic testing. We used data from the Health Information National Trends Survey (cycle 5.1), administered (January –May 2017) to a nationally representative sample of non-institutionalized adults (n = 3285). Those who had “heard about genetic tests that determine how a disease can be treated” had a higher likelihood of Lynch syndrome andBRCA1/2 testing (aRR  = 2.57,p 
Source: Journal of Community Genetics - February 20, 2019 Category: Genetics & Stem Cells Source Type: research

Haemoglobinopathies in India: estimates of blood requirements and treatment costs for the decade 2017 –2026
AbstractThe Government of India is presently engaged in the implementation of a prevention and control programme for two major forms of haemoglobinopathies, thalassaemia major and sickle cell disease, with guidelines for their prevention and management formulated under the National Health Mission. Based on projections for the population up to the year 2026, the annual blood requirement for treatment will increase to 9.24 million units, together with an 86% increase in budgetary requirements which then would account for over 19% of the current National Health Budget. To avert a public health crisis there is an urgent need t...
Source: Journal of Community Genetics - February 12, 2019 Category: Genetics & Stem Cells Source Type: research

Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result
AbstractThe Iowa Newborn Screening (NBS) Program began screening for very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) in 2003. Untreated VLCAD can lead to liver failure, heart failure, and death. Current confirmatory testing recommendations by the American College of Medical Genetics (ACMG) for VLCAD list molecular and functional analysis (i.e., fibroblast fatty acid oxidation probe) as optional. This can lead to misclassification of VLCAD carriers as false positives. Iowa implemented a comprehensive VLCAD confirmatory testing algorithm at the beginning of 2016 that included both molecular and fibroblast analysis....
Source: Journal of Community Genetics - February 5, 2019 Category: Genetics & Stem Cells Source Type: research

Perspectives on communication and engagement with regard to collecting biospecimens and family health histories for cancer research in a rural Alaska Native community
We examined a rural Alaska Native community’s viewpoints about biospecimen collection and storage; interest and recall in reporting family health history; and interest and engagement in biospecimen collection for conducting a genetic test for cancer. In 2014, four focus groups were held with 28 adult Alaska Native rural community members. Thematic analysis was performed after establishing a coding scheme by team consensus. Study participants shared interest in engaging in genetic cancer research and suggested ways to improve community engagement in research. These included transparency and continuous communication wi...
Source: Journal of Community Genetics - January 30, 2019 Category: Genetics & Stem Cells Source Type: research

The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies
AbstractNext-generation sequencing (NGS) provides diagnostic information for many rare conditions. The evolution of NGS for panel, exome, and genome testing is set to be the platform for transforming genomic diagnosis in the National Health Service (NHS). Inherited retinal dystrophies (IRDs) are a highly genetically heterogeneous disease group causing progressive visual impairment. IRDs are ideal for an NGS panel approach due to phenotypic overlap and were one of the first diagnostic panels to be developed in the NHS. While diagnostic yield for patients with IRD has improved significantly with NGS, a proportion of patients...
Source: Journal of Community Genetics - January 24, 2019 Category: Genetics & Stem Cells Source Type: research

Knowledge, attitudes, and perceived barriers towards genetic testing across three rural Illinois communities
AbstractGenetic testing is becoming more prevalent in detecting risk and guiding cancer treatment in our increasingly personalized medicine model. However, few studies have examined underserved populations ’ perceptions of genetic testing, especially those of rural dwelling populations. We asked residents of three rural communities to complete a self-administered survey gauging their knowledge, attitudes, and perceived barriers for genetic testing. 64.8% of participants of the overall study complete d the survey. Most participants were aware of genetic testing for cancer screening (69.0%) and would likely share resul...
Source: Journal of Community Genetics - January 23, 2019 Category: Genetics & Stem Cells Source Type: research

Factors influencing use of telegenetic counseling: perceptions of health care professionals in Sweden
AbstractGenetic counseling services are increasing in demand and limited in access due to barriers such as lack of professional genetic counselors, vast geographic distances, and physical hurdles. This research focuses on an alternative mode of delivery for genetic counseling in Sweden, in order to overcome some of the mentioned barriers. The aim of this study is to identify factors that influence the implementation and use of telegenetic counseling in clinical practice, according to health care professionals in Southeast Sweden. Telegenetic counseling refers to the use of video-conferencing as a means to provide genetic c...
Source: Journal of Community Genetics - January 8, 2019 Category: Genetics & Stem Cells Source Type: research

Responsiveness and adaptability in community engaged biobanking research: experiences from a Hispanic community
AbstractThe success of biobanking research relies on the willingness of the public to provide biological and sociological information, donate tissue samples, and complete psychosocial questionnaires. Medical advances made through biobanking research have limited reach if tissues are not obtained from a diverse sample of individuals. Within, we describe the process of transitioning a small group of Hispanic community members who met regularly into a more formal Hispanic Community Advisory Board (HCAB) for the Genotype-Tissue Expression (GTEx) project. The sole purpose of the HCAB was to provide input and feedback on GTEx an...
Source: Journal of Community Genetics - January 4, 2019 Category: Genetics & Stem Cells Source Type: research

Birth defects surveillance: experiences in Argentina and Colombia
AbstractBirth defects (BDs) are structural or functional anomalies, sporadic or hereditary, of prenatal origin. Public health surveillance is defined as the ongoing systematic collection, analysis, and interpretation of outcome-specific data for use in the planning, implementation, and evaluation of public health practice. BD surveillance systems may have different characteristics according to design, coverage, type of surveillance, case ascertainment, case definition, BD description, maximum age of diagnosis, pregnancy outcomes, coding systems, and the location of the coding process (central or local). The aim of this art...
Source: Journal of Community Genetics - January 3, 2019 Category: Genetics & Stem Cells Source Type: research

“Before Facebook and before social media…we did not know anybody else that had this”: parent perspectives on internet and social media use during the pediatric clinical genetic testing process
AbstractParents of children who undergo clinical genetic testing have significant informational and emotional support needs at different stages of the testing process. We analyzed parent views about use of both the internet and social media to help meet these needs. We interviewed 20 parents of children who underwent clinical genetic testing and analyzed transcripts to identify themes related to internet and social media use. Parents described using the internet to search for information at three stages of the genetic testing process: before testing, pending results return, and after results return. Each stage corresponded...
Source: Journal of Community Genetics - December 19, 2018 Category: Genetics & Stem Cells Source Type: research

Cultivating inclusivity in precision medicine research: disability, diversity, and cultural competence
This article discusses the importance of disability inclusivity in PMR and the construct —and challenges—of disability as a cultural community. Reviewing and extrapolating from studies in healthcare settings, the article considers three interrelated issues that are likely to impact disability inclusivity in PMR: disability accessibility and accommodation; disability stigma and uncon sious bias; and disability language and communication. Next, disability competency trainings that were developed in healthcare settings are surveyed and their applicability for PMR is discussed. The arguments advanced are that disab...
Source: Journal of Community Genetics - December 12, 2018 Category: Genetics & Stem Cells Source Type: research

A comparative study of patients ’ perceptions of genetic and genomic medicine services in California and Malaysia
This study examined perceived barriers experienced by families with rare diseases and explored possible differences between participants in Malaysia and California, USA. The study involvedN = 108 participants recruited in genetics clinic appointments at the University of Malaya Medical Center and three sites in Southern California. Participants completed a survey involving multiple choice and Likert scale items pertaining to perceived barriers to access genetics-related healthcare . Results from this study provide evidence of similar perceived barriers, despite differences in the two populations. Participants...
Source: Journal of Community Genetics - December 3, 2018 Category: Genetics & Stem Cells Source Type: research

Consanguinity and its association with visual impairment in southern India: the Pavagada Pediatric Eye Disease Study 2
This study was part of a population based cross-sectional prevalence survey, “The Pavagada pediatric eye disease study 2.” As a part of the demographic data, trained investigators collected information on consanguinity from the parents of children identified for the study. The children underwent visual acuity measurements and were examined by an ophthalmologist. Children with minor eye diseases were treated and those with major eye diseases were seen by a pediatric ophthalmologist. Eight thousand five hundred and fifty-three children were examined. The prevalence of ocular morbidity was 6.54% and blindness was ...
Source: Journal of Community Genetics - December 1, 2018 Category: Genetics & Stem Cells Source Type: research

Universal tumor screening for Lynch syndrome: perspectives of Canadian pathologists and genetic counselors
AbstractUniversal screening of all newly diagnosed colorectal cancer tumors can identify individuals at high risk for Lynch syndrome (LS), a hereditary cancer syndrome predisposing carriers to increased risk of colorectal, endometrial, and other cancers. To inform planning of a universal tumor screening program for LS in our jurisdiction, we undertook online surveys of Canadian pathologists and genetic counselors to describe existing tumor screening programs. Online surveys were hosted on SurveyMonkey between October 2016 and March 2017. Fifty-three pathologists and 66 genetic counselors completed surveys (totaln =&...
Source: Journal of Community Genetics - November 21, 2018 Category: Genetics & Stem Cells Source Type: research

Perceptions of parents of children with hearing loss of genetic origin in South Africa
AbstractMore than 80% of people with hearing loss (HL) live in low- and middle-income countries. Up to 90% of deaf children are born to hearing parents, leading to novel parenting, communication, educational, and psychosocial experiences. Half of congenital pre-lingual HL is genetic, with a relatively high recurrence risk that may lead to specific challenges for parents of affected children. Currently, little is known of genes implicated and causative mutations for most populations who have HL in Sub-Saharan Africa, as well as genetic counseling services needs for this population. Therefore, this study aimed to explore par...
Source: Journal of Community Genetics - November 21, 2018 Category: Genetics & Stem Cells Source Type: research

“This could be me”: exploring the impact of genetic risk for Huntington’s disease young caregivers
AbstractHuntington ’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 compon ent 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. In an attempt to understand this relationship, we conducted a qualitative st...
Source: Journal of Community Genetics - November 14, 2018 Category: Genetics & Stem Cells Source Type: research

Uncertainty related to multigene panel testing for cancer: a qualitative study on counsellors ’ and counselees’ views
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. The focus g roup sessions and interviews were audio-recorded and transcribed verbatim. Transcripts were analysed inductively by two independent coders and data were examined to obtain a comprehensive list of themes. Counsellors identified several uncertainties, e.g. finding a variant of unknown signi...
Source: Journal of Community Genetics - November 14, 2018 Category: Genetics & Stem Cells Source Type: research

What do people think about genetics? A systematic review
AbstractGenetics 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 l ooked at awareness, attitudes, knowledge, and perception of risks among the general and targeted recruitment populations. After fitting our criteria (from the last 5 years, conducted in the USA, non-provider pop...
Source: Journal of Community Genetics - November 7, 2018 Category: Genetics & Stem Cells Source Type: research

Correction to: EUROCAT: an update on its functions and activities
The published online version contains the following errors: On the cover page"JRC Management Committee" – should be corrected toJRC-EUROCAT Management Committee. In the authors list under the title, same as above,"JRC Management Committee" should be corrected toJRC-EUROCAT Management Committee (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - October 25, 2018 Category: Genetics & Stem Cells Source Type: research