Knowing, relationships and trust —citizens’ perceptions of whole genome sequencing for the Genetics Clinic of the Future
The objective of this article is to present various views from different groups of citizens on the topic of whole genome sequencing (WGS). Sixteen focus groups were carried out in Italy and Austria which aimed at reflecting on the question of how to ensure that the implementation of WGS into the clinic is relevant and responsive to the needs of all members of society. In the qualitative analysis of the focus groups, three key themes (knowing, relationships and trust) were investigated. Although the majority of the participants favoured a person-centred care approach, we also found more radical perspectives in the relations...
Source: Journal of Community Genetics - September 30, 2020 Category: Genetics & Stem Cells Source Type: research

Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making
This study aimed to determine the effects of an online decision aid to support couples in making an informed decision regarding their reproductive options. A nationwide pretest-posttest study was conducted in the Netherlands among 131 participants between November 2016 and May 2018. Couples were eligible for participation if one partner had a pathogenic variant predisposing for an autosomal dominant hereditary cancer syndrome. Participants completed a questionnaire before use (T0), and at 3 months (T3) after use of the decision aid to assess the primary outcome measure informed decision-making, and the secondary outcome me...
Source: Journal of Community Genetics - September 2, 2020 Category: Genetics & Stem Cells Source Type: research

Public engagement with genomic medicine: a summary of town hall discussions
Discussion revealed largely positive attitudes towards genomic medicine; however, critical reflection around informed consent models, the return of sequencing findings, and access to qualified healthcare professionals revealed numerous public concerns. Public support will be important to realize the potential benefits of genomics and precision medicine to health outcomes. Our findings highlight public concerns that must be addressed in educational and informed consent documents related to sequencin g. Town hall attendees endorsed ongoing public education and awareness-building initiatives which could help foster transparen...
Source: Journal of Community Genetics - August 31, 2020 Category: Genetics & Stem Cells Source Type: research

Building awareness on genetic counselling: the launch of Italian Association of Genetic Counsellors (AIGeCo)
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - August 18, 2020 Category: Genetics & Stem Cells Source Type: research

Curative gene therapies for rare diseases
AbstractDiseases caused by alterations in the DNA can be overcome by providing the cells or tissues with a functional copy of the mutated gene. The most common form of gene therapy implies adding an extra genetic unit into the cell. However, new genome engineering techniques also allow the modification or correction of the existing allele, providing new possibilities, especially for dominant diseases. Gene therapies have been tested for 30 years in thousands of clinical trials, but presently, we have only three authorised gene therapy products for the treatment of inherited diseases in European Union. Here, we describe the...
Source: Journal of Community Genetics - August 15, 2020 Category: Genetics & Stem Cells Source Type: research

Impacts of personal DNA ancestry testing
AbstractConsumer uptake of direct-to-consumer (DTC) DNA ancestry testing is accelerating, yet few empirical studies have examined test impacts on recipients despite the DTC ancestry industry being two decades old. Participants in a longitudinal cohort study of response to health-related DTC genomic testing also received personal DNA ancestry testing at no additional cost. Baseline survey data from the primary study were analyzed together with responses to an additional follow-up survey focused on the response to ancestry results. Ancestry results were generated for 3466 individuals. Of those, 1317 accessed their results, a...
Source: Journal of Community Genetics - August 13, 2020 Category: Genetics & Stem Cells Source Type: research

Influence of gender norms in relation to child ’s quality of care: follow-up of families of children with SCD identified through NBS in Tanzania
AbstractIntroducing newborn screening (NBS) services for sickle cell disease (SCD) in Africa has been proven to be one of the most cost-effective approach to reducing morbidity and mortality associated with this condition. In view of this evidence, efforts have been made by countries in Africa where SCD prevalence is high to pilot NBS programmes and to strengthen comprehensive care services for SCD. While it is important to reap the benefits of NBS for SCD in Africa in terms of overall quantitative measures, it is also important to understand how certain social and cultural conditions may disproportionately influence the o...
Source: Journal of Community Genetics - August 12, 2020 Category: Genetics & Stem Cells Source Type: research

Patients ’ decision to contribute to a biobank in the light of the patient-recruiter relationship—a qualitative study of broad consent in a hospital setting
AbstractFindings from recent studies show that the relationship developed with the particular researcher asking for broad consent plays an important role in the participant ’s willingness to give consent. Interviews and focus groups were conducted in order to present a description and analysis of meetings in which broad consent took place and to examine the role of recruiters in the patients’ decision-making and in building trust in the Lausanne University Hospital Institutional Biobank (BIL). Our findings suggest that patient broad consent to biobanking is strongly related to its setting. BIL recruiters’...
Source: Journal of Community Genetics - August 10, 2020 Category: Genetics & Stem Cells Source Type: research

Hmong participants ’ reactions to return of individual and community pharmacogenetic research results: “A positive light for our community”
This study was conducted to create a culturally and linguistically appropriate format to return pharmacogenomic results and identify Minnesota Hmong research participants’ reactions to their personal and coll ective results. Using a community-based participatory research approach, researchers collaborated with Hmong community members to format the pharmacogenetic disclosure process. Three focus groups were completed with 24 Hmong participants and three major themes emerged using thematic analysis. Many H mong focus group participants viewed the results positively, finding them useful for themselves and their communit...
Source: Journal of Community Genetics - August 6, 2020 Category: Genetics & Stem Cells Source Type: research

Utilization of clinical genetic counseling among childhood and young adult cancer survivors in a registry trial
We describe utilization of clinical genetic services among survivors of childhood and young adult cancer after participation in a genetic registry. Clinical genetic counselors flagged 162 out of 1069 pedigrees (15.2%) as suggestive of inheritable cancer susceptibility, resulting in 126 (11.8%) referral letters. Following delivery of the referral letters, 19 (15.1%) participants completed clinical genetic counseling, 16 (12.7%) received testing, and four (3.2%) were found to have actionable results. Our results suggest a discordance between reported willingness to undergo genetic counseling and real-world utilization. (Sour...
Source: Journal of Community Genetics - July 16, 2020 Category: Genetics & Stem Cells Source Type: research

Is family history still underutilised? Exploring the views and experiences of primary care doctors in Malaysia
This study highlighted the need to improve the approach, documentation and the implementation of family history in the Malaysian primary care settings. Integrating family filing concept with built-in clinical decision support into electronic medical records is a potential solution in ensuring effective family history taking in primary care. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - July 14, 2020 Category: Genetics & Stem Cells Source Type: research

Genetic counselling in sickle cell disease: views of single young adults in Ghana
AbstractSickle cell disease is a chronic inherited blood disorder affecting many people globally as well as in Sub-Saharan Africa. In Ghana, the disease has a prevalence of 2% with carrier rate of 20 –25% among the populace. Genetic counselling is a cost-effective strategy in reducing the burden of this disorder. However, little is known about the relevance of this intervention particularly among young adults in their reproductive age. The purpose of this is to explore the views of single youn g adults about genetic counselling in the Accra metropolis, Ghana. An exploratory descriptive qualitative designed was used. ...
Source: Journal of Community Genetics - July 1, 2020 Category: Genetics & Stem Cells Source Type: research

Awareness of genetic testing for children with autism spectrum disorder among caregivers in an autism support group
AbstractRecent discoveries have improved our understanding of the complex genetic mechanisms underlying autism spectrum disorder (ASD). Despite current guidelines, genetic testing for children with ASD is largely underutilized. This has been attributed to a lack of public awareness regarding genetic testing. The role that autism support groups play in this awareness has not been previously described. A web-based survey was developed and distributed through a community support group to assess the awareness and utilization of genetic testing among caregivers for children with ASD. A total of 138 caregivers responded in total...
Source: Journal of Community Genetics - June 24, 2020 Category: Genetics & Stem Cells Source Type: research

The language and values of genetics: invited editorial on “letter to the editor: time to update the language of genetics from the 19th to the twenty-first century. A response to Schmidtke and Cornel” \by Small, Mason and Wright) (DOI: 10.1007/s12687-020-00467-3).
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - June 23, 2020 Category: Genetics & Stem Cells Source Type: research

Perspectives regarding family disclosure of genetic research results in three racial and ethnic minority populations
AbstractThe lack of data on perspectives of racial and ethnic minority populations regarding family disclosure of individual research results (IRR) hinders the development of return of IRR policies and practices that are meaningful and culturally appropriate in diverse populations. This research aims to uncover preferences regarding family disclosure of IRR and identify factors that may shape the preferences in three minority populations. Nine focus groups with 68 adult African American, Hispanic/Latinx, and American Indian/Alaska Native individuals were conducted. Data were analyzed using thematic analysis. Participants w...
Source: Journal of Community Genetics - June 19, 2020 Category: Genetics & Stem Cells Source Type: research

Knowledge, awareness, and attitude of premarital screening with special focus on sickle cell disease: a study from Odisha
The objective of the present study is to explore the knowledge, awareness, and attitude of premarital genetic counseling and screening for sickle cell hemoglobin among individuals of Koraput district. A cross-sectional study design was employed and a total of 152 individuals were recruited using multistage sampling technique, including 43 individuals with sickle cell hemoglobinopathy. Data was collected using a pre-tested, self-administered questionnaire and analyzed using SPSS-20. Though people are aware of SCD and SCT, majority believe that sickle cell carriers transmit the disease and they do not know that marriage betw...
Source: Journal of Community Genetics - June 18, 2020 Category: Genetics & Stem Cells Source Type: research

Home testing for COVID-19: lessons from direct to consumer genetics
AbstractOn March 11th, 2020, COVID-19 was declared a worldwide pandemic. Publicly available testing has lagged, and tech entrepreneurs have quickly volunteered to fill this gap. Over the last two decades, genetic testing ordered outside of a clinic and without the involvement of a physician has been a way for the average individual to get genetic testing. In this commentary, we discuss the lessons learned from this parallel case from genetics and suggest regulatory caution in establishing direct-to-consumer COVID testing. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - June 16, 2020 Category: Genetics & Stem Cells Source Type: research

The implementation of pharmacogenomics into UK general practice: a qualitative study exploring barriers, challenges and opportunities
This study has raised important issues that need to be considered when planning the implementation of pharmacogenomics into clinical practice. Prior to the implementation of genomic te sting into day-to-day practice in UK primary care, it is important that considerations around education, cost-effectiveness and informatics are addressed, as well as the impact on patients. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - May 28, 2020 Category: Genetics & Stem Cells Source Type: research

Empowering newborn screening programs in African countries through establishment of an international collaborative effort
AbstractIn an effort to explore new knowledge and to develop meaningful collaborations for improving child health, theFirst Pan African Workshop on Newborn Screening was convened in June 2019 in Rabat, Morocco. Participants included an informal network of newborn screening stakeholders from across Africa and global experts in newborn screening and sickle cell disease. Over 150 attendees, representing 20 countries, were present including 11 African countries. The agenda focused on newborn screening rationale, techniques, system development, implementation barriers, ongoing research, and collaborations both globally and acro...
Source: Journal of Community Genetics - May 15, 2020 Category: Genetics & Stem Cells Source Type: research

Choices, attitudes, and experiences of genetic screening in Latino/a and Ashkenazi Jewish individuals
AbstractGenetic screening to inform personal risk has only recently become an option as the cost of sequencing decreases, and our ability to interpret sequence variants improves. Studies have demonstrated that people want to learn about their genetic information and do well after learning it, but minorities are underrepresented in these studies. We surveyed Ashkenazi Jewish (AJ) and Latino/a participants in a genetic screening study to solicit choices about genetic results to return, as well as their experience with learning these results and attitudes about genetic information secrecy and security. Participants had the op...
Source: Journal of Community Genetics - May 7, 2020 Category: Genetics & Stem Cells Source Type: research

Parental experiences and genetic counsellor roles in Pierre Robin sequence
AbstractPierre Robin sequence (PRS) is a craniofacial abnormality comprising micrognathia, glossoptosis and airway obstruction, which can impair the newborn ’s feeding and breathing. While there has been much research around the cause of PRS and most appropriate methods of care, understanding the psychosocial aspects of a PRS diagnosis from the parents’ perspective is lacking. The aim of this study is to understand parental experiences of having a c hild diagnosed with PRS, as well as the role of genetic counselling in PRS. Fourteen semi-structured interviews were conducted with parents of children diagnosed wi...
Source: Journal of Community Genetics - May 6, 2020 Category: Genetics & Stem Cells Source Type: research

Letter to the Editor: Time to update the language of genetics from the nineteenth to the twenty-first century: a response to Schmidtke and Cornel
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - May 3, 2020 Category: Genetics & Stem Cells Source Type: research

Letter to the editor. Gene editing and disabled people: a response to I ñigo de Miguel Beriain
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - April 30, 2020 Category: Genetics & Stem Cells Source Type: research

Attitudes towards genetic testing and information: does parenthood shape the views?
This study examines how parents of pediatric patients might differ in their views and attitudes towards genetic technology and information when compared to adult patients. There is surprisingly little evidence on how parents compare to other parts of population in their attitudes. Previous empirical studies often relate health-related preferences and attitudes to factors such as age, education, and income instead of parental status, thus evading comparison of parents to others as health-related decision makers. Findings related to the parental status can be useful when implementing genetic technology in clinical practice. ...
Source: Journal of Community Genetics - April 4, 2020 Category: Genetics & Stem Cells Source Type: research

The readability of online health resources for phenylketonuria
AbstractPhenylketonuria (PKU) is a condition that results in the build-up of phenylalanine in the blood. This can cause severe brain damage and neurological issues if left untreated. Management can be complex and many individuals may turn to the internet to access further information. It is important that resources are understood as misinterpretation could result in harm to health. The aim of this study was to assess the readability of online resources for PKU and to assess their visual appearance using a communication sciences assessment framework. We searched the top five websites through Google using the search term &ld...
Source: Journal of Community Genetics - March 27, 2020 Category: Genetics & Stem Cells Source Type: research

Gene editing and disabled people: a response to Felicity Boardman
AbstractIs the germline gene editing (GEE) of embryos with disabling conditions a moral obligation? According to a recent editorial by F. Broadmann, there are strong reasons to hold the opposite, since “such a focus on the benefit to individual embryos is to overlook the broader societal changes that genome editing will signal, as well as the potential negative impacts on existing persons with genetic conditions”. This paper is aimed at rebuking these arguments by invoking the human dignity pr inciple. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - March 27, 2020 Category: Genetics & Stem Cells Source Type: research

“It’s being part of the big picture, even though you’re a tiny jigsaw piece”—motivations and expectations of individuals participating in the Enroll-HD observational study
AbstractPredictive test guidelines for Huntington ’s disease (HD) recommend individuals are offered opportunities to participate in research regardless of test outcome. Consistent with most HD centres of excellence, the Manchester Centre for Genomic Medicine (MCGM) invites eligible individuals to participate in the observational study, Enroll-HD. Limited research has been conducted to date on the views of research participants and the possible impact of participation. The aim of this qualitative study was to explore the experiences of ten individuals taking part in the Enroll-HD study following pre-symptomatic testin...
Source: Journal of Community Genetics - March 10, 2020 Category: Genetics & Stem Cells Source Type: research

How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners
AbstractGenomic technologies are having an increasing impact across medicine, including primary care. To enable their wider adoption and realize their potential, education of primary health-care practitioners will be required. To enable the development of such resources, understanding where GPs currently access genomic information is needed. One-hundred fifty-nine UK GPs completed the survey in response to an open invitation, between September 2017 and September 2018. Questions were in response to 4 clinical genomic scenarios, with further questions exploring resources used for rare disease patients, direct-to-consumer gen...
Source: Journal of Community Genetics - March 3, 2020 Category: Genetics & Stem Cells Source Type: research

Applying Rogers ’ framework to evaluate public awareness and knowledge of medical genetics in a developing country
AbstractPublic knowledge of medical genetics is essential for better establishment of its services but has been rarely evaluated based on distinguished types of knowledge. We designed and validated a new self-administered questionnaire in Farsi (Persian language) to assess public knowledge of medical genetics based on Rogers ’ framework. This framework divides knowledge into three types of awareness, how-to (practical) and principles knowledge which refer to knowing the existence, proper use, and theoretical principles of an innovation, respectively. We asked consecutive individuals (n = 306, age&thinsp...
Source: Journal of Community Genetics - February 28, 2020 Category: Genetics & Stem Cells Source Type: research

Prevalence of mutations in a diverse cohort of 3162 women tested via the same multigene cancer panel in a managed care health plan
We examined the pathogenic variant/likely pathogenic variant (PV/LPV) prevalence for 20 genes by clinical factors, demographics, and personal or family cancer history. We calculated adjusted odds ratios for the association between race/ethnicity and mutation results. The majority of women (65.4%) were referred post-breast or ovarian cancer diagnosis. The overall prevalence of any PV/LPV result was 11.7%. Overall, nearly 5.4% hadBRCA1/2 mutations, while 6.3% had at least one mutation in non-BRCA genes. In the subset with any PV/LPV result, 55.0% of the total mutations were in non-BRCA genes. The distribution of mutations wa...
Source: Journal of Community Genetics - February 24, 2020 Category: Genetics & Stem Cells Source Type: research

Quality of life and comprehensive health supervision for children with Down syndrome in Thailand
AbstractChildren with Down syndrome often require several specialty doctors and multidisciplinary teams for their associated anomalies. This may impact their quality of life and creates gaps in treatment monitoring. No studies have yet been conducted in Thailand to measure their quality of life and level of comprehensive health supervision. Therefore, we aimed to study the quality of life among children with Down syndrome and determine if they receive comprehensive health supervision for their condition. In this descriptive research, data were collected from a medical record review of children with Down syndrome during a 1...
Source: Journal of Community Genetics - February 22, 2020 Category: Genetics & Stem Cells Source Type: research

Primary care physician experiences utilizing a family health history tool with electronic health record –integrated clinical decision support: an implementation process assessment
This study reports on PCPs ’ initial experiences with the Genetic and Wellness Assessment (GWA), a patient-administered FHH screening tool utilizing the EHR and CDS. Semi-structured interviews were conducted with 24 PCPs who use the GWA in a network of community-based practices. Four main themes regarding GWA implementation emerged: benefits to clinical care, challenges in practice, CDS-specific issues, and physician-recommended improvements. Sub-themes included value in improving patient access to genetic services, inadequate time to discuss GWA recommendations, lack of patient follow-through with recommendations, a...
Source: Journal of Community Genetics - February 4, 2020 Category: Genetics & Stem Cells Source Type: research

Characteristics predicting recommendation for familial breast cancer referral in a cohort of women from primary care
AbstractFamily history of breast and related cancers can indicate increased breast cancer (BC) risk. In national familial breast cancer (FBC) guidelines, the risk is stratified to guide referral decisions. We aimed to identify characteristics associated with the recommendation for referral in a large cohort of women undergoing FBC risk assessment in a recent primary care study. Demographic, family history, psychological and behavioural factors were collected with family history questionnaires, psychological questionnaires and manual data extraction from general practice electronic health records. Participants were women ag...
Source: Journal of Community Genetics - January 22, 2020 Category: Genetics & Stem Cells Source Type: research

Parent and child perspectives on family interactions related to melanoma risk and prevention after CDKN2A/ p16 testing of minor children
AbstractPredispositional genetic testing of children for adult-onset health risks is typically only used when prevention and screening measures have utility during childhood. Little is known about how children and their parents may use predispositional risk information, including whether it changes their interactions around risk-reducing prevention and screening behaviors. The current study examined perspectives on family interactions around skin cancer prevention and control practices through 1  year after test reporting and counseling among children who received melanoma predispositional genetic testing and their pa...
Source: Journal of Community Genetics - January 18, 2020 Category: Genetics & Stem Cells Source Type: research

Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level
AbstractThe goal of our study is to describe the prevalence of congenital anomalies (CA) in hospitals of the City of Buenos Aires, Argentina, according to two proxy variables of the socioeconomic level: health subsector, public (PUB) versus private/social security (PRI), and geographical location, northern (N) versus southern (S). The source of data was the National Network of Congenital Anomalies of Argentina (RENAC) (period 2010 –2016). From a total of 228,208 births, 4872 newborns with CA were detected (2.14%). The prevalence in PRI-N, PUB-N, PRI-S, and PUB-S hospitals were 1.59%, 1.91%, 2.20%, and 2.43%, respecti...
Source: Journal of Community Genetics - January 3, 2020 Category: Genetics & Stem Cells Source Type: research

Prenatal detection of congenital anomalies and related factors in Argentina
AbstractCongenital anomalies (CAs) are a leading cause of neonatal death. Many CAs can be diagnosed prenatally. To estimate the prenatal detection rate (PDR) of CA in hospitals participating in the RENAC (National Network of Congenital Anomalies of Argentina) and to analyze the PDR according to different factors. Sources were reports of RENAC from the 2013 –2016 period. Congenital anomalies included were those detectable by ultrasound or by a prenatal karyotype. PDR was calculated by region, health subsector, clinical presentation, maternal age, sex, and twining. Using multiple logistic regression analysis, we evalua...
Source: Journal of Community Genetics - January 3, 2020 Category: Genetics & Stem Cells Source Type: research

Online BRCA1/2 screening in the Australian Jewish community: a qualitative study
AbstractScreening programmes forBRCA1/2 Jewish Founder mutations (JFM) in the Jewish community have been advocated internationally. Implementation of these programmes could decrease morbidity and mortality ofBRCA1/2 JFM carriers through the uptake of cancer screening strategies and risk-reducing surgery. An online programme offered to the Sydney Jewish community that delivers pre-test information and collects consent forBRCA1/2 JFM testing via a website is currently being evaluated (JeneScreen). Forty-three participants from JeneScreen were invited to participate in a sub-study, of semi-structured pre- and post-result tele...
Source: Journal of Community Genetics - December 26, 2019 Category: Genetics & Stem Cells Source Type: research

A new decade of community genetics: old and new challenges
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - December 19, 2019 Category: Genetics & Stem Cells Source Type: research

Contentious ethical issues in community genetics: let ’s talk about them
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - December 12, 2019 Category: Genetics & Stem Cells Source Type: research

Expanded universal carrier screening and its implementation within a publicly funded healthcare service
AbstractCarrier screening, a well-established clinical initiative, has been slow to take advantage of the new possibilities offered by high-throughput next generation sequencing technologies. There is evidence of significant benefit in expanding carrier screening to include multiple autosomal recessive conditions and offering a ‘universal’ carrier screen that could be used for a pan-ethnic population. However, the challenges of implementing such a programme and the difficulties of demonstrating efficacy worthy of public health investment are significant barriers. In order for such a programme to be successful, ...
Source: Journal of Community Genetics - December 11, 2019 Category: Genetics & Stem Cells Source Type: research

African American mothers ’ attitudes towards genetic testing in the InterGEN study
AbstractThe paucity of representation of people of color, particularly those of African ancestry, is a major issue in contemporary omics research. Metadata summarizing genome-wide association studies from 2005 to 2015 suggest that nearly 80% of participants are of European ancestry and only 2.4% are of African ancestry. Negative attitude towards genetic testing is a commonly cited belief as to why there is low representation of Americans of African ancestry participating in genetic studies. Using the attitudes towards genetic testing survey, administered as part of our parent (epi)genome-wide association study, we characte...
Source: Journal of Community Genetics - December 7, 2019 Category: Genetics & Stem Cells Source Type: research

Haemoglobin disorders —a point of entry for community genetics services in India?
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - December 6, 2019 Category: Genetics & Stem Cells Source Type: research

A large family with CYLD cutaneous syndrome: medical genetics at the community level
AbstractGermline mutations in the cylindromatosis gene (CYLD) are associated with a rare autosomal dominant disease known as CYLD cutaneous syndrome (CCS). Patients present multiple neoplasms originating from skin appendages. Here, we investigated the main clinical and molecular features of a large family with CCS having lived in a small Brazilian town for 6 generations, making its prevalence significantly high. We observed a predominance of the disease among males and a wide phenotypic variation. A high frequency of basal cell carcinomas among affected people was found. The mutation c.2806C>T, p.Arg936* in theCYLD gene...
Source: Journal of Community Genetics - December 3, 2019 Category: Genetics & Stem Cells Source Type: research

Willingness of women to participate in obstetrical and pediatric research involving biobanks
AbstractUse of biobanks for future genetic/genomic testing has increased. Biospecimens are increasingly being collected from infants/children; however, little is known about attitudes towards collection of biospecimens from postpartum women and their child. Using a hypothetical consent, this study investigated willingness to participate and attitudes, beliefs, and concerns related to consent materials requesting the biobanking genetic samples. A cross-sectional mixed methods design included women who reviewed a hypothetical consent related to biobanking genetic samples. Women were asked about their willingness to participa...
Source: Journal of Community Genetics - November 28, 2019 Category: Genetics & Stem Cells Source Type: research

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