“Being proactive, not reactive”: exploring perceptions of genetic testing among White, Latinx, and Pacific Islander Populations
This study presents novel perceptions of genetic testing in participants from diverse communities across three types of genetic testing. Genetic healthcare providers should incorporate participants ’ perceptions, values, and beliefs into their counseling delivery as a way to engage with diverse communities. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - August 20, 2021 Category: Genetics & Stem Cells Source Type: research
Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland
AbstractNovel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standard genetic testing and trio-based whole genome sequencing (WGS), in the context of the Scottish Genomes Partnership (SGP) study. We also explored what users value about genomic sequencing. Insights from the costing and value assessments will inform a subsequent economic evaluation of genomic medicine in Scotland. An avera...
Source: Journal of Community Genetics - August 20, 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
“Being proactive, not reactive”: exploring perceptions of genetic testing among White, Latinx, and Pacific Islander Populations
This study presents novel perceptions of genetic testing in participants from diverse communities across three types of genetic testing. Genetic healthcare providers should incorporate participants ’ perceptions, values, and beliefs into their counseling delivery as a way to engage with diverse communities. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - August 20, 2021 Category: Genetics & Stem Cells Source Type: research
Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland
AbstractNovel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standard genetic testing and trio-based whole genome sequencing (WGS), in the context of the Scottish Genomes Partnership (SGP) study. We also explored what users value about genomic sequencing. Insights from the costing and value assessments will inform a subsequent economic evaluation of genomic medicine in Scotland. An avera...
Source: Journal of Community Genetics - August 20, 2021 Category: Genetics & Stem Cells Source Type: research
Psychological distress in response to physical activity restrictions in patients with non-syndromic thoracic aortic aneurysm/dissection
AbstractIndividuals diagnosed with thoracic aortic aneurysm/dissection (TAAD) are given activity restrictions in an attempt to mitigate serious health complications and sudden death. The psychological distress resulting from activity restrictions has been established for other diseases or patient populations; however, individuals with non-syndromic TAAD have not been previously evaluated. Seventy-nine participants completed a questionnaire utilizing the Patient Health Questionnaire (PHQ-9) and Generalized Anxiety Disorder (GAD-7) questionnaires, which assess levels of depression and anxiety respectively. Additionally, quan...
Source: Journal of Community Genetics - August 13, 2021 Category: Genetics & Stem Cells Source Type: research
Anticipating the primary care role in genomic medicine: expectations of genetics health professionals
AbstractOur purpose was to explore genetics health professionals ’ (GHPs) expectations of primary care providers' (PCPs) role in genomic medicine now and in the future. Focus groups/interviews were conducted with GHPs in Ontario, Canada. Recordings were transcribed and analysed using qualitative descriptive analysis. Five focus groups (6 clinical geneticists, 2 4 genetic counselors, 1 nurse, 4 laboratory staff, 3 genetics program administrators) and 3 interviews (nurses) were conducted. GHPs described a key role for PCPs in genomic medicine that could be enhanced if GHPs and PCPs worked together more effectively, making ...
Source: Journal of Community Genetics - August 11, 2021 Category: Genetics & Stem Cells Source Type: research
Participation in genetic research among Latinx populations by Latin America birth-residency concordance: a global study
AbstractLatinx populations are underrepresented in DNA-based research, and risk not benefiting from research if underrepresentation continues. Latinx populations are heterogenous; reflect complex social, migration, and colonial histories; and form strong global diasporas. We conducted a global study using a survey tool (Amazon ’s Mechanical Turk portal) to ascertain willingness to participate in genetic research by Latin America birth-residency concordance. Participants in the global study identified as Latinx (n=250) were classified as the following: (1) born/live outside of Latin America and the Caribbean (LAC), (2) bo...
Source: Journal of Community Genetics - August 10, 2021 Category: Genetics & Stem Cells Source Type: research
Investigating the reasons for marriage among couples with thalassemia minor, in Iran
AbstractThalassemia is one of the most prevalent genetic disorders in Iran. The birth of a child with thalassemia major is associated with many problems for the family, and society. In the present study, the reasons for marriage among people with thalassemia minor in Iran, in spite of receiving medical advice against it, have been investigated. The present study was a qualitative content analysis conducted in 2019 with the participation of 12 couples (24 participants) with thalassemia minor living in Rafsanjan, Iran; and 2 counselors working with thalassemia patients. Data collection was conducted through in-depth intervie...
Source: Journal of Community Genetics - July 27, 2021 Category: Genetics & Stem Cells Source Type: research
Premarital genetic screening and care of Tanzanian children with sickle cell disease: a qualitative study on parents ’ views and experiences
In conclusion, participants expressed a preference for premarital genetic testing, where others insisted it becomes compulsory. In addition, there should be an adequate clinic for early screening, accessible therapeutic support and long-term follow up for children with SCD. Support to poor families with individual with SCD through national health assurance scheme and free provision of preventive medications such as hydroxyurea, is recommended. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - July 21, 2021 Category: Genetics & Stem Cells Source Type: research
