A review of key terminology and definitions used for birth defects globally
This study aimed to gain insight into the diversity of terms and definitions for birth defects, including those used routinely by relevant international/national organisations and in the peer-reviewed literature. This two-part study included (1) scoping review of peer-reviewed lite rature to identify terms and definitions in use for birth defects and (2) review of key websites and grey literature to identify terms and definitions used. The results of this study indicate a wide variety of terms being used, often interchangeably and undefined, in peer-reviewed publications, on i nstitutional websites and related literature. ...
Source: Journal of Community Genetics - April 24, 2023 Category: Genetics & Stem Cells Source Type: research
Never “totally prepared”: Support groups on helping families prepare for a child with a genetic condition
AbstractA rapid increase in the reach and breadth of prenatal genetic screening and testing has led to an expanding need for prenatal support of families receiving this genetic information. As part of a larger study investigating prenatal preparation for a child with a genetic condition, we interviewed representatives of patient advocacy groups (PAGs) who support parents post-diagnosis. Groups supporting families with Down syndrome were often local or regional, while other groups were often national or international in scope. Groups varied in their willingness or ability to support families prior to making a pregnancy cont...
Source: Journal of Community Genetics - April 12, 2023 Category: Genetics & Stem Cells Source Type: research
Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study
AbstractThe complexity of genetic variant interpretation means that a proportion of individuals who undergo genetic testing for a hereditary cancer syndrome will have their test result reclassified over time. Such a reclassification may involve a clinically significant upgrade or downgrade in pathogenicity, which may have significant implications for medical management. To date, few studies have examined the psychosocial impact of a reclassification in a hereditary cancer syndrome context. To address this gap, semi-structured telephone interviews were performed with eighteen individuals who had aBRCA1,BRCA2 or Lynch syndro...
Source: Journal of Community Genetics - April 3, 2023 Category: Genetics & Stem Cells Source Type: research
Co-designing interventions to ‘live well’: experiences and perceptions of the Genetic, Undiagnosed and Rare Disease (GUaRD) community
In this study, we aimed to identify and prioritise practical interventions the Genetic, Undiagnosed and Rare Disease comm unity report could help them to ‘live well’. Using a three-stage approach, we first analysed data from a year-long Genetic, Undiagnosed and Rare Disease journal study to record all the practical interventions reported, either trialled or proposed. Second, after grouping the interventions (n = 19) into four themes (support for individuals with GUaRD; support for carers of people with GUaRD; education/employment; transition), we presented the interventions to members of the GUaRD community (people...
Source: Journal of Community Genetics - March 31, 2023 Category: Genetics & Stem Cells Source Type: research
Communicating risk and the landscape of cancer prevention — an exploratory study that examines perceptions of cancer-related genetic counseling and testing among African Americans and Latinos in the Midwest
AbstractAfrican American (AA) and Latino populations are impacted disproportionately by cancer incidence and mortality compared to the general US population. Contributing to these rates are multiple inheritable cancers that impact both men and women. Some of these diseases may be detected through genetic counseling and germline DNA testing; however, AA and Latinos are unaware and have limited knowledge and thus significantly underutilize these services and technologies. Research to detect influencing factors to testing uptake has also been slow due to multiple factors. The research team followed a community-based participa...
Source: Journal of Community Genetics - March 17, 2023 Category: Genetics & Stem Cells Source Type: research
An exemplary model of genetic counselling for highly specialised services
We present an exemplary role for genetic counsellors in a highly specialised service within England ’s National Health Service for people who have or are suspected to have rare genetic types of Ehlers Danlos syndrome. The service employs genetic counsellors and consultants from the fields of genetics and dermatology. The service also works closely with other specialists and related charities and patient organisations. The genetic counsellors in the service provide routine genetic counselling such as diagnostic and predictive testing, but their role also includes the writing of patient literature and emergency and well-be...
Source: Journal of Community Genetics - March 9, 2023 Category: Genetics & Stem Cells Source Type: research
Fundamental knowledge taught in compulsory education for effective genetic counseling: a qualitative study of descriptions in textbooks
AbstractIn genetic counseling, information must be provided in ways that the client and general public can understand to ensure that decisions are made autonomously. To realize this, we must assess the extent of knowledge held by the general public regarding genetics. To identify the client ’s original knowledge before genetic counseling, we explored the fundamental knowledge related to genetic counseling that is taught in Japanese compulsory education. A qualitative study was conducted. We selected 50 textbooks for compulsory education (Japanese, social studies, science, health and physical education, technology and hom...
Source: Journal of Community Genetics - February 28, 2023 Category: Genetics & Stem Cells Source Type: research
Pakistani healthcare professionals ’ perceptions of communication with patients and their relatives about hereditary breast cancer: a qualitative study in a LMIC
In conclusion, HCPs would value the development of interventions to support communication between HCPs and patients. They also highlighted the need for interventions to support intrafamilial communication about HBC. Much research and political support are needed to address patient, social, and systemic-level barriers to facilitate communication about HBC. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - February 23, 2023 Category: Genetics & Stem Cells Source Type: research
New year, new goals for the journal?
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - February 11, 2023 Category: Genetics & Stem Cells Source Type: research
Re-envisioning community genetics: community empowerment in preventive genomics
AbstractAs genomic technologies rapidly develop, polygenic scores (PGS) are entering into a growing conversation on how to improve precision in public health and prevent chronic disease. While the integration of PGS into public health and clinical services raises potential benefits, it also introduces potential harms. In particular, there is a high level of uncertainty about how to incorporate PGS into clinical settings in a manner that is equitable, just, and aligned with the long-term goals of many healthcare systems to support person-centered and value-based care. This paper argues that any conversation about whether an...
Source: Journal of Community Genetics - February 11, 2023 Category: Genetics & Stem Cells Source Type: research
What makes a good life: using theatrical performance to enhance communication about polygenic risk scores research in patient and public involvement
Discussions with both performers and patients/public raised three key questio ns: (1) can the data be trusted?; (2) does knowing genetic risk actually help the patient?; and (3) what makes a life worthwhile? Creating and watching fictional narratives helped all participants explore the potential use of PRS in a clinical setting, informing future research considerations and im proving communication between the researchers and lay members of the PPIE group. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - February 10, 2023 Category: Genetics & Stem Cells Source Type: research
Correction to: Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - February 10, 2023 Category: Genetics & Stem Cells Source Type: research
Interventions addressing genetic disease burdens within selected countries in the MENA region: a scoping review
ConclusionsThere is an imbalanced response to genetic disease burdens across the MENA region. More research is warranted where interventions are scarce, particularly to inform development of pilot community-based programs. There is also a need for better monitoring and evaluation of existing nation-wide programs. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - January 24, 2023 Category: Genetics & Stem Cells Source Type: research
Public ’s awareness of biobanks and willingness to participate in biobanking: the moderating role of social value orientation
AbstractAlthough the awareness of biobanks is considered to be a key factor in the willingness to participate in biobanking, the empirical evidence on their relationship is inconsistent. The present study investigated social value orientation as an explanatory factor in this relationship. A representative sample of 600 Slovaks completed Slider Measure to assess their social value orientation. Thereafter, they reported their level of awareness of biobanks and their willingness to provide biospecimens and personal information to biobanks. The results showed a positive relationship between awareness and willingness. Although ...
Source: Journal of Community Genetics - January 20, 2023 Category: Genetics & Stem Cells Source Type: research
