Pilot investigation into the need and feasibility of a psychoeducation and support group for male caregivers of those with Huntington ’s disease
AbstractThe psychosocial sequelae of caregiving in Huntington ’s disease (HD) have been shown to be extensive, even in comparison with other progressive neurological disorders. Based on observed clinical need, this investigation aimed to identify psychoeducational and emotional support needs of male HD caregivers and to explore the feasibility and utility of a carer support group. Six male caregivers completed quantitative measures assessing depression, anxiety, carer burden, and carer support needs. The men participated in two education and support group sessions, four weeks apart, which were developed with consideratio...
Source: Journal of Community Genetics - October 1, 2021 Category: Genetics & Stem Cells Source Type: research
Understanding genomic health information: how to meet the needs of the culturally and linguistically diverse community —a mixed methods study
AbstractClinical genomic testing, analysis of your entire genetic material for healthcare purposes, is a complex topic for various medical specialities. Although Australia is a multicultural society, most genomic resources are produced in English which can make understanding challenging for people from culturally and linguistically diverse (CALD) backgrounds. A mixed methods approach explored the views of healthcare interpreters and people from CALD backgrounds to identify knowledge gaps and inform the provision of more equitable services. Eighteen healthcare interpreters completed a survey from two public hospitals in Mel...
Source: Journal of Community Genetics - October 1, 2021 Category: Genetics & Stem Cells Source Type: research
Developing genetic counselling services in an underdeveloped healthcare setting
AbstractGenetic counselling services are well established in North America, Western Europe and Australia. In other regions, genetic counselling services are still emerging. Where this is the case, an in-depth understanding of the main stakeholders ’ needs, challenges and opportunities will inform the changes and innovations required to bring genetic counselling closer to the community. The present study explored the needs and challenges of patients, family members and professionals with a view to setting up a cancer genetic counselling serv ice in Romania. In order to get a comprehensive outlook, key stakeholders were in...
Source: Journal of Community Genetics - October 1, 2021 Category: Genetics & Stem Cells Source Type: research
Costs, burdens and the prevention of genetic disorders: what role for professional influence?
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - October 1, 2021 Category: Genetics & Stem Cells Source Type: research
Demographic and socioeconomic trends in DNA banking utilization in the USA
AbstractDemographic and clinical information from de-identified individuals utilizing a single DNA banking service over a 22-year period was assessed using descriptive statistics. The socioeconomic characteristics of the study population were estimated using a zip code –level analysis of US Census data and compared to national US Metrics for 2016. Samples from 4,874 individuals were deposited to a single commercial DNA bank from 1997 to 2019. Samples originated from 31 countries across 6 continents, with the majority of samples originating from the United States (US; 97.37%; n = 4,746). A higher proportion of individ...
Source: Journal of Community Genetics - October 1, 2021 Category: Genetics & Stem Cells Source Type: research
Understanding genomic health information: how to meet the needs of the culturally and linguistically diverse community —a mixed methods study
AbstractClinical genomic testing, analysis of your entire genetic material for healthcare purposes, is a complex topic for various medical specialities. Although Australia is a multicultural society, most genomic resources are produced in English which can make understanding challenging for people from culturally and linguistically diverse (CALD) backgrounds. A mixed methods approach explored the views of healthcare interpreters and people from CALD backgrounds to identify knowledge gaps and inform the provision of more equitable services. Eighteen healthcare interpreters completed a survey from two public hospitals in Mel...
Source: Journal of Community Genetics - October 1, 2021 Category: Genetics & Stem Cells Source Type: research
Awareness of paternal age effect disorders among Japanese pregnant women: implications for prenatal genetic counseling for advanced paternal age
AbstractThe increasing prevalence of advanced paternal age (APA) has mirrored the rise in maternal age. APA is associated with an increased risk of de novo pathogenic single-nucleotide variants, but this topic has been much less frequently discussed than advanced maternal age (AMA). To explore the awareness of pregnant women regarding paternal age effect (PAE) disorders, a self-administered questionnaire survey was conducted for pregnant women at their first prenatal visit before 17 weeks of gestation. A total of 120 valid respondents (95.2%) were included in the analyses. Of these, 63.3% of pregnant women were aware of ...
Source: Journal of Community Genetics - September 29, 2021 Category: Genetics & Stem Cells Source Type: research
Evaluating genetic and genomic tests for heritable conditions in Australia: lessons learnt from health technology assessments
AbstractThe Medical Services Advisory Committee (MSAC) is an independent non-statutory committee established by the Australian government to provide recommendations on public reimbursement of technologies and services, other than pharmaceuticals. MSAC has established approaches for undertaking health technology assessment (HTA) of investigative services and codependent technologies. In 2016, MSAC published its clinical utility card (CUC) Proforma, an additional tool to guide assessments of genetic testing for heritable conditions. We undertook a review and narrative synthesis of information extracted from all MSAC assessme...
Source: Journal of Community Genetics - September 27, 2021 Category: Genetics & Stem Cells Source Type: research
Assessing parental understanding of variant reclassification in pediatric neurology and developmental pediatrics clinics
AbstractImprovements in technology used for genetic testing have yielded an increased numbers of variants that are identified, each with a potential to return uninformative results. While some genetics providers may expect patients to be responsible for staying abreast of updates to their genetic testing results, it is unknown whether patients are even aware of the possibility of variant reclassification. Little research has assessed the comprehension and attitudes of parents of pediatric patients regarding reclassification of variants of uncertain significance (VUS). Semi-structured telephone interviews were conducted wit...
Source: Journal of Community Genetics - September 24, 2021 Category: Genetics & Stem Cells Source Type: research
Costs, burdens and the prevention of genetic disorders: what role for professional influence?
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - September 23, 2021 Category: Genetics & Stem Cells Source Type: research
Supporting teachers to use genomics as a context in the classroom: an evaluation of learning resources for high school biology
AbstractAs genomics becomes embedded into healthcare, public genomic health literacy is critical to support decision-making for personal and family health decisions and enable citizens to engage with related social issues. School science education has the potential to establish the foundations of genetic and genomic literacy. The concept of literacy extends beyond conceptual understanding of biological principles to familiarity with the applications and implications of genetics, critical thinking skills, and socioscientific reasoning. We developed and evaluated a suite of resources for teaching genetics and genomics in the...
Source: Journal of Community Genetics - September 22, 2021 Category: Genetics & Stem Cells Source Type: research
Developing genetic counselling services in an underdeveloped healthcare setting
AbstractGenetic counselling services are well established in North America, Western Europe and Australia. In other regions, genetic counselling services are still emerging. Where this is the case, an in-depth understanding of the main stakeholders ’ needs, challenges and opportunities will inform the changes and innovations required to bring genetic counselling closer to the community. The present study explored the needs and challenges of patients, family members and professionals with a view to setting up a cancer genetic counselling serv ice in Romania. In order to get a comprehensive outlook, key stakeholders were in...
Source: Journal of Community Genetics - September 20, 2021 Category: Genetics & Stem Cells Source Type: research
Diagnostic yield and recognized barriers of an adult neurogenetics clinic
AbstractThe advent of molecular genetic technologies paved a path for the diagnosis of many neurological disorders. Joint evaluation by a neurologist and a medical genetics specialist can potentially increase diagnostic effectiveness by ensuring the exclusion of non-genetic conditions with similar phenotypes and by rationally selecting appropriate genetic diagnostic tools. Therefore, a monthly adult neurogenetics clinic was established. A retrospective review of medical records of all patients who attended the clinic from April 2015 to March 2019 was conducted. Eighty-two patients were evaluated (age: 47.1 ± 15.7, m...
Source: Journal of Community Genetics - September 3, 2021 Category: Genetics & Stem Cells Source Type: research
Genetic counselling as a route to enhanced autonomy: using a sequential mixed methods research approach to develop a theory regarding presymptomatic genetic testing for young adults at risk of inherited cancer syndromes
AbstractUndertaking presymptomatic or predictive genetic testing should involve a considered choice. Decisions regarding genetic testing for young adults have to be considered within the context of their key life stage, which may involve developing a career, forming partnerships and/or becoming parents. The aim of this study was to develop a theoretical model regarding the factors involved when young adults (18 –30 years) undergo presymptomatic genetic testing for inherited cancer syndromes. The model evolved from synthesis of results of a sequential mixed methods study involving a systematic review, a qualitative study...
Source: Journal of Community Genetics - August 20, 2021 Category: Genetics & Stem Cells Source Type: research
