Correction to: Treatment decision ‑making in sickle cell disease patients
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - December 23, 2021 Category: Genetics & Stem Cells Source Type: research
Evaluating the model of offering expanded genetic carrier screening to high school students within the Sydney Jewish community
This study was undertaken to evaluate whether testing for an expanded number of conditions in a high school setting would impact the effectiveness of education. In this questionnaire-based study, genetic carrier testing for nine conditions was offered to 322 year 11 students from five high schools, with students attending a compulsory 1-h education session prior to voluntary testing. Comparison of pre- and post-education measures demonstrated a significant increase in knowledge, positive attitudes, and reduced concern immediately after the education session. Retention of knowledge, measures of positive attitude, and low co...
Source: Journal of Community Genetics - November 30, 2021 Category: Genetics & Stem Cells Source Type: research
Early-stage economic analysis of research-based comprehensive genomic sequencing for advanced cancer care
This study uses real-world data and quasi-experimental matching to examine early-stage cost and health impacts of research-based genomic sequencing. British Columbia ’s Personalized OncoGenomics (POG) single-arm program applies whole genome and transcriptome analysis (WGTA) to characterize genomic landscapes in advanced cancers. Our cohort includes POG patients enrolled between 2014 and 2015 and 1:1 genetic algorithm–matched usual care controls. We undertake a cost consequence analysis and estimate 1-year effects of WGTA on patient management, patient survival, and health system costs reported in 2015 Canadian dollars....
Source: Journal of Community Genetics - November 29, 2021 Category: Genetics & Stem Cells Source Type: research
A collaborative genetic carrier screening model for the British Ashkenazi Jewish community
We present a unique model of a British genetic carrier screening programme for individuals with Ashkenazi Jewish ancestry that exemplifies a partnership between a publicly funded healthcare service (the NHS) and a charity, Jnetics. This model provides affordable access to carrier screening for severe autosomal recessive diseases increased in this community. Prior to the development of this programme, the British healthcare system only provided Tay Sachs ’ screening for this community, leaving them at higher risk of having a child with a serious autosomal recessive disease. The Jnetics screening programme is promoted thro...
Source: Journal of Community Genetics - November 29, 2021 Category: Genetics & Stem Cells Source Type: research
Early-stage economic analysis of research-based comprehensive genomic sequencing for advanced cancer care
This study uses real-world data and quasi-experimental matching to examine early-stage cost and health impacts of research-based genomic sequencing. British Columbia ’s Personalized OncoGenomics (POG) single-arm program applies whole genome and transcriptome analysis (WGTA) to characterize genomic landscapes in advanced cancers. Our cohort includes POG patients enrolled between 2014 and 2015 and 1:1 genetic algorithm–matched usual care controls. We undertake a cost consequence analysis and estimate 1-year effects of WGTA on patient management, patient survival, and health system costs reported in 2015 Canadian dollars....
Source: Journal of Community Genetics - November 29, 2021 Category: Genetics & Stem Cells Source Type: research
A collaborative genetic carrier screening model for the British Ashkenazi Jewish community
We present a unique model of a British genetic carrier screening programme for individuals with Ashkenazi Jewish ancestry that exemplifies a partnership between a publicly funded healthcare service (the NHS) and a charity, Jnetics. This model provides affordable access to carrier screening for severe autosomal recessive diseases increased in this community. Prior to the development of this programme, the British healthcare system only provided Tay Sachs ’ screening for this community, leaving them at higher risk of having a child with a serious autosomal recessive disease. The Jnetics screening programme is promoted thro...
Source: Journal of Community Genetics - November 29, 2021 Category: Genetics & Stem Cells Source Type: research
Comprehension of skin cancer genetic risk feedback in primary care patients
This study adds to the work examining comprehension and usage of common, moderate risk genetic information in public health contexts. However, to maximize the utility of genetic risk information in the general population, further research is needed to investigate and address areas where common genetic risk feedback misunderstandings occur. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - November 19, 2021 Category: Genetics & Stem Cells Source Type: research
Parents ’ perspectives, experiences, and need for support when communicating with their children about the psychiatric manifestations of 22q11.2 deletion syndrome (22q11DS)
ConclusionThis model may help equip genetics professionals to support parents to communicate effectively with their children in order to improve health outcomes and family adaptation to 22q11DS.Practice implicationsOur findings may apply not only to 22q11DS, but also to other genetic conditions where psychiatric manifestations occur. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - November 16, 2021 Category: Genetics & Stem Cells Source Type: research
Extended family thalassemia screening as a feasible alternative method to be implemented in identifying carriers in West Java, Indonesia
This study aimed to compare thalassemia screening methods using the extended family approach with and without a history of severe thalassemia and the feasibility of implementing extended family screening method. A case control study was conducted in Dr. Hasan Sadikin General Hospital Bandung with 3 generations of extended families. Data were collected from 150 subjects of 8 extended families with severe thalassemia as an index case entry and 151 subjects of 12 families with no history of thalassemia. All subjects were examined for Hb, MCV, MCH, and peripheral blood smear (PBS) as initial laboratory examinations. Subjects w...
Source: Journal of Community Genetics - November 16, 2021 Category: Genetics & Stem Cells Source Type: research
Parents ’ perspectives, experiences, and need for support when communicating with their children about the psychiatric manifestations of 22q11.2 deletion syndrome (22q11DS)
ConclusionThis model may help equip genetics professionals to support parents to communicate effectively with their children in order to improve health outcomes and family adaptation to 22q11DS.Practice implicationsOur findings may apply not only to 22q11DS, but also to other genetic conditions where psychiatric manifestations occur. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - November 16, 2021 Category: Genetics & Stem Cells Source Type: research
Extended family thalassemia screening as a feasible alternative method to be implemented in identifying carriers in West Java, Indonesia
This study aimed to compare thalassemia screening methods using the extended family approach with and without a history of severe thalassemia and the feasibility of implementing extended family screening method. A case control study was conducted in Dr. Hasan Sadikin General Hospital Bandung with 3 generations of extended families. Data were collected from 150 subjects of 8 extended families with severe thalassemia as an index case entry and 151 subjects of 12 families with no history of thalassemia. All subjects were examined for Hb, MCV, MCH, and peripheral blood smear (PBS) as initial laboratory examinations. Subjects w...
Source: Journal of Community Genetics - November 16, 2021 Category: Genetics & Stem Cells Source Type: research
IMPACT webinars: Improving Patient Access to genetic Counselling and Testing using webinars —the Alberta experience with hypertrophic cardiomyopathy
AbstractGrowing demand for genetic counselling and testing has created a need for innovative service delivery models to provide quality care in an efficient manner. The goal of this study was to develop and evaluate a patient-facing webinar providing pre-test genetic counselling to individuals with hypertrophic cardiomyopathy. A patient-facing webinar was developed and implemented between April 2019 and January 2021. It was evaluated using the Alberta Quality Matrix for Health framework, which considers the patient experience across the domains of effectiveness, appropriateness, acceptability, accessibility, and efficiency...
Source: Journal of Community Genetics - November 11, 2021 Category: Genetics & Stem Cells Source Type: research
