Public Health Genomics最新文献

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Associations of GST Gene Polymorphisms and GST Enzyme Activity with the Development of Noise-induced Hearing Loss in Chinese Han Males. 中国汉族男性 GST 基因多态性和 GST 酶活性与噪声性听力损失发病的关系
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2024-10-30 DOI: 10.1159/000541618
Fang Ji, Jian Zhang, Xiaowen Ding, Li Rong, Xiaodong Liu, Tenglong Yan, Jue Li
{"title":"Associations of GST Gene Polymorphisms and GST Enzyme Activity with the Development of Noise-induced Hearing Loss in Chinese Han Males.","authors":"Fang Ji, Jian Zhang, Xiaowen Ding, Li Rong, Xiaodong Liu, Tenglong Yan, Jue Li","doi":"10.1159/000541618","DOIUrl":"https://doi.org/10.1159/000541618","url":null,"abstract":"<p><p>Introduction In noise-induced hearing loss (NIHL), glutathione S-transferases (GST) play a pivotal role as antioxidants in cochlear protection. Nevertheless, the variability in population and environmental factors complicates the interpretation of research findings on the association among GST gene polymorphism, GST enzyme activity, and NIHL, leading to inconsistent results. To explored the potential correlation between them, we taking a cross-sectional survey. Methods For workers with NIHL, standard 1:1 propensity score matching was applied to create a highly comparable control group. Multiple PCR was used to detect GSTT1 and GSTM1 gene deletions, PCR-RFLP was used to detect the GSTP1 rs1695 gene polymorphism, and a GST assay kit was used to measure total plasma GST activity. Furthermore, we analysed the relationship among GST gene polymorphism, GST enzyme activity, and NIHL. Results This study included 144 workers with NIHL and 144 workers with normal hearing. The GSTM1 null genotype was significantly higher among workers with NIHL than controls (64.6% vs 49.3%), regression analysis revealed a significant correlation between GSTM1 null genotype and elevated susceptibility to NIHL(p=0.013). Workers with NIHL had significantly lower GST activity than healthy controls(p<0.05). GST enzymes were not affected by GSTT1, GSTM1 or GSTP1 polymorphisms. Conclusion GSTM1 null genotype but not GSTM1 alone, may confer susceptibility to NIHL, and serum GST enzyme activity is linked to NIHL.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142548573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
"The Biggest Struggle:" Navigating Trust and Uncertainty in Genetic Variant Interpretation. 最大的挣扎:"在基因变异解释的信任和不确定性中导航"。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2024-10-25 DOI: 10.1159/000542274
Zachary Griffen, Dina M Asfaha, Kellie Owens
{"title":"\"The Biggest Struggle:\" Navigating Trust and Uncertainty in Genetic Variant Interpretation.","authors":"Zachary Griffen, Dina M Asfaha, Kellie Owens","doi":"10.1159/000542274","DOIUrl":"https://doi.org/10.1159/000542274","url":null,"abstract":"<p><strong>Introduction: </strong>As the utility of genomic sequencing increases, its use in healthcare will continue to expand beyond expert clinics towards non-specialist practices such as primary care. At the same time, discordance in genetic variant identification and classification between laboratories remains a concern for the field. This research assesses how clinicians with and without genetics expertise understand and trust genetic test results, underscoring how variation in the handling of genetic test results can have real impact on patient care.</p><p><strong>Methods: </strong>We conducted 40 interviews with genetics experts, including clinical geneticists and genetic counselors, and non-expert clinicians including primary care providers and cardiologists.</p><p><strong>Results: </strong>Clinical geneticists and genetic counselors reported spending significant time assessing the validity of results from genetic testing laboratories, conversing with laboratories about those results, and potentially reinterpreting results. Conversely, primary care providers and cardiologists without specific genetics expertise reported high levels of trust in lab accuracy and variant interpretation, and did not reassess results.</p><p><strong>Conclusion: </strong>We find significant variation in how genetics experts and non-experts understand the trustworthiness of genetic laboratory reports. This variation could lead to differences in patient care between clinical settings and requires additional guidance for clinicians regarding the handling of genetic test results.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142511688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
"Should I let them know I have this?": Multifaceted genetic discrimination and limited awareness of legal protections amongst individuals with hereditary cancer syndromes. "我应该让他们知道我有这个病吗?遗传性癌症综合征患者受到的多方面遗传歧视和对法律保护的有限认识。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2024-10-24 DOI: 10.1159/000542210
Ridhi Gopalakrishnan, Jordan Sam, Carly Butkowsky, Emma Reble, Marc Clausen, Sepideh Rajeziesfahani, Brooklyn Sparkes, Vernie Aguda, Melyssa Aronson, Derrick Bishop, Lesa Dawson, Andrea Eisen, Tracy Graham, Jane Green, Chloe Mighton, Julee Pauling, Claudia Pavao, Petros Pechlivanoglou, Catriona Remocker, Sevtap Savas, Sophie Sun, Teresa Tiano, Angelina Tilley, Kasmintan Schrader, Holly Etchegary, Yvonne Bombard
{"title":"\"Should I let them know I have this?\": Multifaceted genetic discrimination and limited awareness of legal protections amongst individuals with hereditary cancer syndromes.","authors":"Ridhi Gopalakrishnan, Jordan Sam, Carly Butkowsky, Emma Reble, Marc Clausen, Sepideh Rajeziesfahani, Brooklyn Sparkes, Vernie Aguda, Melyssa Aronson, Derrick Bishop, Lesa Dawson, Andrea Eisen, Tracy Graham, Jane Green, Chloe Mighton, Julee Pauling, Claudia Pavao, Petros Pechlivanoglou, Catriona Remocker, Sevtap Savas, Sophie Sun, Teresa Tiano, Angelina Tilley, Kasmintan Schrader, Holly Etchegary, Yvonne Bombard","doi":"10.1159/000542210","DOIUrl":"https://doi.org/10.1159/000542210","url":null,"abstract":"<p><strong>Introduction: </strong>Hereditary cancer syndromes (HCS), such as Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and Lynch Syndrome (LS), represent approximately 10% of all cancers. Along with medical burdens associated with the genetic risk of developing cancer, many individuals face stigma and discrimination. Genetic discrimination refers to negative treatment, unfair profiling or harm based on genetic characteristics, manifesting as \"felt\" stigma (ostracization without discriminatory acts) or \"enacted\" stigma (experiencing discriminatory acts). This study aimed to describe concerns and experiences of genetic discrimination faced by individuals with HCS.</p><p><strong>Methods: </strong>Semi-structured qualitative interviews were conducted with individuals with molecularly-confirmed HCS residing in Ontario, British Columbia and Newfoundland &amp; Labrador, Canada. Purposive sampling was applied to obtain a diverse sample across demographic characteristics. Study procedures were informed by interpretive description; data were thematically analyzed using constant comparison.</p><p><strong>Results: </strong>73 participants were interviewed (39 HBOC, 34 LS; 51 females, 21 males, 1 gender-diverse; aged 25-80). Participants described multifaceted forms of genetic discrimination across healthcare, insurance, employment, and family/social settings. Participants valued the Genetic Non-Discrimination Act's protective intent, but demonstrated limited knowledge of its existence and provisions. Limited knowledge, coupled with policy constraints in non-legislatable settings and third-party use of proxy genetic information, hindered participants' ability to whistleblow or seek recourse.</p><p><strong>Conclusion: </strong>Our results illuminate a disconnect between intended protective effects of genetic non-discrimination legislation and ongoing genetic discrimination faced by individuals with hereditary conditions. To better support these individuals, this study encourages public outreach and knowledge translation efforts to increase awareness of non-discrimination legal protections.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142511687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Who's on your genomics research team? Consumer experiences from Australia. 您的基因组学研究团队中有谁?来自澳大利亚的消费者经验
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2024-10-24 DOI: 10.1159/000542252
Monica Ferrie, Zoe Fehlberg, Stephanie Best
{"title":"Who's on your genomics research team? Consumer experiences from Australia.","authors":"Monica Ferrie, Zoe Fehlberg, Stephanie Best","doi":"10.1159/000542252","DOIUrl":"https://doi.org/10.1159/000542252","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142511689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Co-creating the experience of consent for newborn genome sequencing (The Generation Study). 共同创造新生儿基因组测序同意体验(一代研究)。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2024-10-11 DOI: 10.1159/000541935
Mathilde Leblond, Mirabai Galati, Jonathan Roberts, Harriet Etheredge, Nancy Willacy, Öznur Özkurt, Amanda Pichini
{"title":"Co-creating the experience of consent for newborn genome sequencing (The Generation Study).","authors":"Mathilde Leblond, Mirabai Galati, Jonathan Roberts, Harriet Etheredge, Nancy Willacy, Öznur Özkurt, Amanda Pichini","doi":"10.1159/000541935","DOIUrl":"https://doi.org/10.1159/000541935","url":null,"abstract":"<p><strong>Introduction: </strong>The Generation Study (GS) aims to recruit 100,000 newborns in England to evaluate the utility and feasibility of using whole genome sequencing to screen for rare conditions that can be treated in early childhood; enable wider research to support further discovery in genomics and health; and explore the potential of storing an individual's genome over their lifetime. The GS incorporates complexities of consent in newborn screening, genomic medicine, and healthcare research, and there is a gap in exploring how to implement existing recommendations. Participant involvement has been shown to improve the implementation of processes and materials in healthcare. This paper describes how the GS team leveraged this through Design Research (DR) methodologies to develop the GS consent experience.</p><p><strong>Methods: </strong>Over a two-year period, 9 rounds of DR were undertaken with expectant and recent parents and a chosen partner (n=105). Each round consisted of semi-structured interviews and a range of co-design and usability testing activities.</p><p><strong>Results: </strong>DR activities highlighted areas for consideration when consent materials and processes. We describe common barriers and enablers across three stages of consent: awareness, consideration, and making an informed decision. As well as ensuring participants fully understand pros and cons of taking part, materials should consider pre-existing assumptions or misconceptions which may discourage parents from learning about the GS.</p><p><strong>Conclusion: </strong>Involving parents in co-creation has broadened the perspective of what constitutes informed decision-making for newborn genome sequencing. Iterative rounds of research and design can provide tangible paths forward, supporting the successful implementation of informed decision-making.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Advancing Implementation Science in Cancer Genomics: Progressing from Discovery to Population Health Benefit. 推进癌症基因组学的实施科学:从发现到造福大众健康。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2024-10-07 DOI: 10.1159/000541577
David A Chambers, Katrina A B Goddard
{"title":"Advancing Implementation Science in Cancer Genomics: Progressing from Discovery to Population Health Benefit.","authors":"David A Chambers, Katrina A B Goddard","doi":"10.1159/000541577","DOIUrl":"https://doi.org/10.1159/000541577","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Receiving a pathogenic variant in a population breast cancer screening trial: a mixed method study. 在人群乳腺癌筛查试验中接受致病变体:一项混合方法研究。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2024-09-20 DOI: 10.1159/000540680
Leslie Riddle, Jennifer Elyse James, Arash Naeim, Lisa Madlensky, Susie Brain, Diana De Rosa, Martin Eklund, Allison Stover Fiscalini, Diane Heditsian, Barbara Koenig, Katherine Ross, Leah P Sabacan, Barry Tong, Neil Wenger, Galen Joseph
{"title":"Receiving a pathogenic variant in a population breast cancer screening trial: a mixed method study.","authors":"Leslie Riddle, Jennifer Elyse James, Arash Naeim, Lisa Madlensky, Susie Brain, Diana De Rosa, Martin Eklund, Allison Stover Fiscalini, Diane Heditsian, Barbara Koenig, Katherine Ross, Leah P Sabacan, Barry Tong, Neil Wenger, Galen Joseph","doi":"10.1159/000540680","DOIUrl":"https://doi.org/10.1159/000540680","url":null,"abstract":"<p><strong>Introduction: </strong>Risk-based breast cancer screening aims to address persistent high morbidity and mortality. This study examines the experience of participants in the WISDOM (Women Informed to Screen Depending on Measures of Risk) trial who received a pathogenic variant in one of nine high or moderate penetrance breast cancer genes.</p><p><strong>Methods: </strong>Participants completed a brief survey (n=181) immediately following results disclosure and one year later. Descriptive statistics were computed and comparisons between participants at different risk levels were performed using Fisher's Exact and McNemar's tests. Analysis of qualitative interviews (n=42) at 2-4 weeks and six months post results disclosure compared responses at the two timepoints, and explained and elaborated on the survey data.</p><p><strong>Results: </strong>66.3% of survey respondents felt very or moderately prepared to receive genomic results. At the T1 survey 80.7% of participants had shared the genetic result with a blood relative, increasing to 88.4% at T2; providing information and encouraging cascade testing were the most common reasons for sharing. Communication with a blood relative, other health care providers beyond the primary care provider, and cascade testing were higher for participants with a high risk than low or moderate risk genomic finding. Qualitative interviews elucidated varied reasons why participants felt (un)prepared for the results, including whether or not they had a family history of breast cancer, and illustrate the complexity of decision-making about sharing results.</p><p><strong>Conclusions: </strong>Although most participants communicated results with family members and health care providers in accord with their risk level, questions remain about how to adequately prepare individuals to receive pathogenic results, ensure timely and accessible follow-up care, and facilitate genetic counseling and cascade testing of at-risk relatives in the setting of population risk-based screening.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of PD-L1 Gene Polymorphisms and Interactions with Cooking with Solid Fuel Exposure on Tuberculosis. PD-L1 基因多态性及与固体燃料烹饪接触的相互作用对结核病的影响。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2024-01-01 Epub Date: 2024-05-10 DOI: 10.1159/000538904
Kun Tang, Jing Wang, Hua Zhong, Qiaozhi Wang, Zihao Li, Chunli Wu, Rongjing An, Ying Lin, Hongzhuan Tan, Lizhang Chen, Mian Wang, Mengshi Chen
{"title":"Impact of PD-L1 Gene Polymorphisms and Interactions with Cooking with Solid Fuel Exposure on Tuberculosis.","authors":"Kun Tang, Jing Wang, Hua Zhong, Qiaozhi Wang, Zihao Li, Chunli Wu, Rongjing An, Ying Lin, Hongzhuan Tan, Lizhang Chen, Mian Wang, Mengshi Chen","doi":"10.1159/000538904","DOIUrl":"10.1159/000538904","url":null,"abstract":"<p><strong>Introduction: </strong>Given that PD-L1 is a crucial immune checkpoint in regulating T-cell responses, the aim of this study was to explore the impact of PD-L1 gene polymorphisms and the interaction with cooking with solid fuel on susceptibility to tuberculosis (TB) in Chinese Han populations.</p><p><strong>Methods: </strong>A total of 503 TB patients and 494 healthy controls were enrolled in this case-control study. Mass spectrometry technology was applied to genotype rs2297136 and rs4143815 of PD-L1 genes. The associations between single nucleotide polymorphism (SNPs) and TB were assessed using unconditional logistic regression analysis. Marginal structural linear odds models were used to estimate the gene-environment interactions.</p><p><strong>Results: </strong>Compared with genotype CC, genotypes GG and CG+GG at rs4143815 locus were significantly associated with susceptibility to TB (OR: 3.074 and 1.506, respectively, p &lt; 0.05). However, no statistical association was found between rs2297136 SNP and TB risk. Moreover, the relative excess risk of interaction between rs4143815 of the PD-L1 gene and cooking with solid fuel was 2.365 (95% CI: 1.922-2.809), suggesting positive interactions with TB susceptibility.</p><p><strong>Conclusion: </strong>The rs4143815 polymorphism of the PD-L1 gene was associated with susceptibility to TB in Chinese Han populations. There were significantly positive interactions between rs4143815 and cooking with solid fuel.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140913142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Improving Care for Marginalized Populations at Risk for Hereditary Cancer Syndromes: Innovations that Expanded Reach in the CHARM Study. 改善对有遗传性癌症综合征风险的边缘人群的护理:CHARM 研究中扩大覆盖范围的创新。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2024-01-01 Epub Date: 2023-12-23 DOI: 10.1159/000535610
Marian J Gilmore, Sarah Knerr, Stephanie A Kraft, Joanna E Bulkley, Barbara B Biesecker, Heather Spencer Feigelson, Jessica Ezzell Hunter, Charisma L Jenkins, Tia L Kauffman, Sandra Soo-Jin Lee, Elizabeth G Liles, Kathleen F Mittendorf, Kristin R Muessig, Kathryn M Porter, Bradley A Rolf, Alan F Rope, Jamilyn M Zepp, Katherine Patrice Anderson, Beth Devine, Galen Joseph, Michael C Leo, Katrina Goddard, Benjamin S Wilfond
{"title":"Improving Care for Marginalized Populations at Risk for Hereditary Cancer Syndromes: Innovations that Expanded Reach in the CHARM Study.","authors":"Marian J Gilmore, Sarah Knerr, Stephanie A Kraft, Joanna E Bulkley, Barbara B Biesecker, Heather Spencer Feigelson, Jessica Ezzell Hunter, Charisma L Jenkins, Tia L Kauffman, Sandra Soo-Jin Lee, Elizabeth G Liles, Kathleen F Mittendorf, Kristin R Muessig, Kathryn M Porter, Bradley A Rolf, Alan F Rope, Jamilyn M Zepp, Katherine Patrice Anderson, Beth Devine, Galen Joseph, Michael C Leo, Katrina Goddard, Benjamin S Wilfond","doi":"10.1159/000535610","DOIUrl":"10.1159/000535610","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139032810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bridging the Gap between Intuition and Theory: A Comparison of Different Approaches to Implementation Strategy Development for Improving Lynch Syndrome Detection. 弥合直觉与理论之间的差距:比较不同的实施策略开发方法以改进林奇综合征检测。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2024-01-01 Epub Date: 2024-08-01 DOI: 10.1159/000540612
April Morrow, Priscilla Chan, Gabriella Tiernan, Elizabeth Kennedy, Julia Steinberg, Emily Hogden, Deborah Debono, Natalie Taylor
{"title":"Bridging the Gap between Intuition and Theory: A Comparison of Different Approaches to Implementation Strategy Development for Improving Lynch Syndrome Detection.","authors":"April Morrow, Priscilla Chan, Gabriella Tiernan, Elizabeth Kennedy, Julia Steinberg, Emily Hogden, Deborah Debono, Natalie Taylor","doi":"10.1159/000540612","DOIUrl":"10.1159/000540612","url":null,"abstract":"<p><strong>Introduction: </strong>Despite growing calls for the explicit application of theory when designing behaviour change interventions, limited empirical evidence exists regarding the effectiveness of these methods compared to non-theoretical approaches. A cluster randomized controlled trial (Hide and Seek Project - HaSP) tested two implementation approaches for improving hereditary cancer referral practices with one key distinction: implementation strategies were designed based explicitly on psychological theory or based on stakeholder intuition. This study presents the detailed methods and resources used to facilitate this comparison, whilst examining the strategies generated through both approaches.</p><p><strong>Methods: </strong>Across seven Australian hospitals, clinical stakeholders attended focus groups to co-design site-specific strategies for improving Lynch syndrome referral. Co-design methods differed according to trial arm. Implementation strategy content was examined, with intuitively derived strategies retrospectively coded to determine theoretical alignment.</p><p><strong>Results: </strong>Fifty-one strategies were proposed across all sites (theory-based arm = 32, intuition-based arm = 19). Overall, nine behaviour change technique (BCT) categories were used on 77 occasions. In the theory-based trial arm, eight BCT categories were identified on 53 occasions; and five BCT categories on 24 occasions in the intuition-based arm. BCT categories were largely similar across both arms. After retrospectively coding intuitively derived strategies, 42% contained mechanistic links, thereby demonstrating theoretical alignment.</p><p><strong>Conclusion: </strong>Methods facilitated robust comparison of theoretical and intuitive approaches to implementation strategy design. Recognizing the known benefits of theory for enhancing scientific learning, applying these methods on a larger scale may provide definitive evidence about the comparative effectiveness of theoretical approaches.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141876537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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