Health in Our Hands: diabetes and substance use education through a new genomic framework for schools and communities
Abstract From May 2014 through June 2019, educational, health, and academic partners under an NIH Science Education Partnership Award (SEPA) engaged 1271 6th through 8th grade students and their families in the “A New Genomic Framework for Schools and Communities” program. Evaluation addressed the effectiveness of the Health in Our Hands genomics curriculum, which employed Next Generation Science Standards and community action research projects to target two common, complex conditions—type 2 diabetes and substance use disorder (SUD)—in the underserved cities of Flint and Detroit, MI, USA. Curriculum outcomes were...
Source: Journal of Community Genetics - January 16, 2023 Category: Genetics & Stem Cells Source Type: research
Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling
AbstractXYY syndrome is characterized by a variable neurodevelopmental phenotype, with features including developmental delays, cognitive impairments, and an increased risk for mental health conditions. There are two recent developments that have primarily motivated this review. The first is the increased use of non-invasive prenatal screening (NIPS), which will likely result in more individuals being diagnosed with XYY prenatally. As such, health care providers (HCPs) both within genetics and outside of the specialty are more likely to encounter this diagnosis in the future. The second is advances in the understanding of ...
Source: Journal of Community Genetics - January 7, 2023 Category: Genetics & Stem Cells Source Type: research
Assessing patient-level knowledge of precision medicine in a community health center setting
Abstract
As precision medicine approaches are implemented, cancer treatment decisions have come to require comprehension of genetic tests and their role in risk stratification and treatment options. Acceptance and implementation of precision medicine requires patient understanding of numeracy, genetic literacy, health literacy, and medical trust. Implementing precision medicine in a US federally qualified community health center (FQCHC) setting has received little attention. Using a mixed-methods approach, we sought to identify patient-level factors influencing the understanding of cancer risk and precision medicine amo...
Source: Journal of Community Genetics - January 7, 2023 Category: Genetics & Stem Cells Source Type: research
Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling
AbstractXYY syndrome is characterized by a variable neurodevelopmental phenotype, with features including developmental delays, cognitive impairments, and an increased risk for mental health conditions. There are two recent developments that have primarily motivated this review. The first is the increased use of non-invasive prenatal screening (NIPS), which will likely result in more individuals being diagnosed with XYY prenatally. As such, health care providers (HCPs) both within genetics and outside of the specialty are more likely to encounter this diagnosis in the future. The second is advances in the understanding of ...
Source: Journal of Community Genetics - January 7, 2023 Category: Genetics & Stem Cells Source Type: research
Assessing patient-level knowledge of precision medicine in a community health center setting
Abstract
As precision medicine approaches are implemented, cancer treatment decisions have come to require comprehension of genetic tests and their role in risk stratification and treatment options. Acceptance and implementation of precision medicine requires patient understanding of numeracy, genetic literacy, health literacy, and medical trust. Implementing precision medicine in a US federally qualified community health center (FQCHC) setting has received little attention. Using a mixed-methods approach, we sought to identify patient-level factors influencing the understanding of cancer risk and precision medicine amo...
Source: Journal of Community Genetics - January 7, 2023 Category: Genetics & Stem Cells Source Type: research
Mothers of children with Down syndrome: a clinical and epidemiological study
This study highlights the importance of prenatal care and the urgent need for better DS screening allowing for immediate postnatal care, positively impacting the life expectancy of these patients. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - December 23, 2022 Category: Genetics & Stem Cells Source Type: research
Evaluating visual imagery for participant understanding of research concepts in genomics research
AbstractInformed consent is crucial for participant understanding, engagement, and partnering for research. However, current written informed consents have significant limitations, particularly for complex topics such as genomics and biobanking. Our goal was to identify how participants visually conceptualize terminology used in genomics and biobanking research studies, which might provide a novel approach for informed consent. An online convenience sample was used from May to July 2020 to collect data. Participants were asked to draw 10 randomly chosen words out of 32 possible words commonly used in consent forms for geno...
Source: Journal of Community Genetics - December 19, 2022 Category: Genetics & Stem Cells Source Type: research
Ethical, legal, and social implications of genetic risk prediction for multifactorial disease: a narrative review identifying concerns about interpretation and use of polygenic scores
Abstract
Advances in genomics have enabled the development of polygenic scores (PGS), sometimes called polygenic risk scores, in the context of multifactorial diseases and disorders such as cancer, cardiovascular disease, and schizophrenia. PGS estimate an individual ’s genetic predisposition, as compared to other members of a population, for conditions which are influenced by both genetic and environmental factors. There is significant interest in using genetic risk prediction afforded through PGS in public health, clinical care, and research settings, yet ma ny acknowledge the need to thoughtfully consider and addre...
Source: Journal of Community Genetics - December 19, 2022 Category: Genetics & Stem Cells Source Type: research
Evaluating visual imagery for participant understanding of research concepts in genomics research
AbstractInformed consent is crucial for participant understanding, engagement, and partnering for research. However, current written informed consents have significant limitations, particularly for complex topics such as genomics and biobanking. Our goal was to identify how participants visually conceptualize terminology used in genomics and biobanking research studies, which might provide a novel approach for informed consent. An online convenience sample was used from May to July 2020 to collect data. Participants were asked to draw 10 randomly chosen words out of 32 possible words commonly used in consent forms for geno...
Source: Journal of Community Genetics - December 19, 2022 Category: Genetics & Stem Cells Source Type: research
Ethical, legal, and social implications of genetic risk prediction for multifactorial disease: a narrative review identifying concerns about interpretation and use of polygenic scores
Abstract
Advances in genomics have enabled the development of polygenic scores (PGS), sometimes called polygenic risk scores, in the context of multifactorial diseases and disorders such as cancer, cardiovascular disease, and schizophrenia. PGS estimate an individual ’s genetic predisposition, as compared to other members of a population, for conditions which are influenced by both genetic and environmental factors. There is significant interest in using genetic risk prediction afforded through PGS in public health, clinical care, and research settings, yet ma ny acknowledge the need to thoughtfully consider and addre...
Source: Journal of Community Genetics - December 19, 2022 Category: Genetics & Stem Cells Source Type: research
Understanding how educational interventions improve treatment adherence in patients with familial hypercholesterolaemia: a systematic review
AbstractEffective treatments for familial hypercholesterolaemia (FH) offer patients the opportunity of normal life expectancy, but lifelong adherence to both lipid-lowering therapies and lifestyle measures is challenging, and thus, this is rarely achieved. The aim of this systematic review is to identify attributes of educational interventions that promote adherence to treatment in FH. A systematic literature search was undertaken using Medline, CINAHL, HMIC and Embase. Papers were included based upon pre-defined inclusion and exclusion criteria; the quality of each included paper was assessed using the MERSQI scoring syst...
Source: Journal of Community Genetics - December 13, 2022 Category: Genetics & Stem Cells Source Type: research
