Public Health Genomics最新文献

{"title":"Integrating China in the International Consortium for Personalised Medicine. A position Paper on Personalised Medicine in Sustainable Healthcare","authors":"F. Causio, F. Beccia, I. Hoxhaj, Hui-Yao Huang, Lily Wang, Wenya Wang, S. Farina, T. Osti, C. Savoia, C. Cadeddu, Walter Ricciardi, S. Boccia","doi":"10.1159/000534010","DOIUrl":"https://doi.org/10.1159/000534010","url":null,"abstract":"Introduction\u0000Over the last decade, the emergence and spread of Personalised Medicine (PM) has defined a substantial revolution in healthcare. In principle, healthcare system sustainability is challenged by the investments required for research and development, as well as the adoption of PM techniques in routine clinical care. The “Integrating China in the International Consortium for Personalised Medicine” (IC2PerMed) EU-funded project aims to integrate China into the “International Consortium for Personalised Medicine” (ICPerMed). IC2PerMed aims to align the EU and China’s research agendas in this field to enable a swift development of approaches in the EU and China with strong leverage upon EU-Chinese collaborations. \u0000Methods\u0000Within this project, we firstly mapped relevant policies on PM in both the EU and China, then we involved European and Chinese experts in PM in workshops and Delphi Surveys in order to identify relevant priorities for the implementation of PM in sustainable healthcare.\u0000Results\u0000As a result of this process, we identified nine overarching priorities, each addressing specific aspects of the sustainability of healthcare systems and PM implementation, with the main goal of supporting policymakers in integrating PM approaches in the EU and China.\u0000Discussion/conclusion\u0000The implementation of PM in health systems is appealing in terms of improved accuracy in diagnostics, treatment and prevention of disease, as well as reduction of the side effects resulting from inefficient use of drugs. Research, development, and implementation of needed techniques require time and resources, that can slow the adoption of PM in healthcare systems. The nine priorities we identified address some of the most critical points, trying to lay the foundations for a comprehensive approach.","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"24 2","pages":""},"PeriodicalIF":1.7,"publicationDate":"2023-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138594278","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}

{"title":"Future Forecasting for Research and Practice in Genetic Literacy.","authors":"Kimberly A Kaphingst","doi":"10.1159/000533968","DOIUrl":"10.1159/000533968","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"159-164"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10614492/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10277624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Consideration of the Beneficiary Inducement Statute on Access to Health Care Systems' Population Genetic Screening Programs.","authors":"Aurora M Washington, Kimberly Foss, Joan H Krause, Arlene M Davis, Kristine J Kuczynski, Laura V Milko, Jonathan S Berg, Megan C Roberts","doi":"10.1159/000534365","DOIUrl":"10.1159/000534365","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"183-187"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10619584/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41122587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human-Centered Design Study to Inform Traceback Cascade Genetic Testing Programs at Three Integrated Health Systems.","authors":"Katrina M Romagnoli, Alanna Kulchak Rahm, Mary Cabell Jonas, Rachel Schwiter, Tracey Klinger, Ilene Ladd, Zachary Salvati, Anna DiNucci, Paula Rae Blasi, Leigh Sheridan, Aaron Scrol, Nora B Henrikson","doi":"10.1159/000529852","DOIUrl":"10.1159/000529852","url":null,"abstract":"<p><strong>Introduction: </strong>A traceback genetic testing program for ovarian cancer has the potential to identify individuals with hereditary breast and ovarian cancer and their relatives. Successful implementation depends on understanding and addressing the experiences, barriers, and preferences of the people served.</p><p><strong>Methods: </strong>We conducted a remote, human-centered design research study of people with ovarian, fallopian tube, or peritoneal cancer (probands) and people with a family history of ovarian cancer (relatives) at three integrated health systems between May and September 2021. Participants completed activities to elicit their preferences about ovarian cancer genetic testing messaging and to design their ideal experience receiving an invitation to participate in genetic testing. Interview data were analyzed using a rapid thematic analysis approach.</p><p><strong>Results: </strong>We interviewed 70 participants and identified five preferred experiences for a traceback program. Participants strongly prefer discussing genetic testing with their doctor but are comfortable discussing with other clinicians. The most highly preferred experience for both probands and relatives was to discuss with a knowledgeable clinician who could answer questions, followed by directed (sent directly to specific people) or passive (shared in a public area) communication. Repeated contact was acceptable for reminders.</p><p><strong>Conclusion: </strong>Participants were open to receiving information about traceback genetic testing and recognized its value. Participants preferred discussing genetic testing with a trusted clinician. Directed communication was preferable to passive communication. Other valued information included how genetic tests help their family and the cost of genetic testing. These findings are informing traceback cascade genetic testing programs at all three sites.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"45-57"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10475143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10144622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Behavioral Changes after Psychiatric Genetic Counseling: An Exploratory Study.","authors":"Stephanie Huynh, Emily Morris, Angela Inglis, Jehannine Austin","doi":"10.1159/000530366","DOIUrl":"10.1159/000530366","url":null,"abstract":"<p><strong>Introduction: </strong>Though it is well established that genetic information does not produce behavior changes, there are limited data regarding whether genetic counseling can facilitate changes in lifestyle and health behaviors that can result in improved health outcomes.</p><p><strong>Methods: </strong>To explore this issue, we conducted semi-structured interviews with 8 patients who had lived experience of psychiatric illness and who had received psychiatric genetic counseling (PGC). Using interpretive description, we used a constant comparative approach to data analysis.</p><p><strong>Results: </strong>Participants talked about how, prior to PGC, they held misconceptions and/or uncertainties about the causes of and protective behaviors associated with mental illness, which caused feelings of guilt, shame, fear, and hopelessness. Participants reported that PGC reframed things in a way that provided them a sense of agency over illness management, allowed a greater acceptance of illness, and provided release from some of the negative emotions associated with their initial framing of their illness, which seemed to be related to the self-reported increase in engagement in illness management behaviors and consequently improved mental health outcomes.</p><p><strong>Conclusion: </strong>This exploratory study provides evidence to support the idea that through addressing emotions associated with perceived cause of illness and facilitating understanding of etiology and risk-reducing strategies, PGC may lead to an increase in behaviors, which protect mental health.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"35-44"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9307224","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}

{"title":"A Genetic Counselor's Reflections on Lessons Learned, Challenges, and Successes Experienced during a One-Year Pilot Integration in a Primary Care Clinic.","authors":"Prescilla B Carrion, Jehannine Austin, Alison M Elliott","doi":"10.1159/000530683","DOIUrl":"10.1159/000530683","url":null,"abstract":"<p><p>This practice-related insight article describes the experience of a genetic counselor being integrated into a multidisciplinary primary care clinic that provides care for a predominantly marginalized patient population in Victoria, British Columbia, Canada. Reflections on the lessons learned, including challenges and successes during this 1-year pilot integration are shared by the genetic counselor in the context of exploring the potential value a genetic counselor can provide while embedded in a primary care clinic. The relationship between clinical genetic counseling practice and a culturally safe and trauma-informed approach in primary care is explored, and additional steps are described that can be taken to facilitate more equitable and inclusive access to genetic counseling services for underserved and vulnerable patient populations.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"58-67"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9624708","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}

{"title":"Is Habitual Dietary Intake of Fats Associated with Apelin Gene Expression in Visceral and Subcutaneous Adipose Tissues and Its Serum Levels in Obese Adults?","authors":"Maryam Zarkesh, Mohammad Safarian, Golaleh Asghari, Afsoon Daneshafrooz, Emad Yuzbashian, Mehdi Hedayati, Parvin Mirmiran, Alireza Khalaj","doi":"10.1159/000526961","DOIUrl":"10.1159/000526961","url":null,"abstract":"<p><strong>Introduction: </strong>Apelin could be one of the last protective defenses before developing obesity-related disorders, including insulin resistance, type 2 diabetes, and hypertension, which can be modified by dietary intake. The present study investigated the association of habitual intake of total fatty acids (TFAs), saturated-, monounsaturated-, polyunsaturated FAs, n-3, and n-6 FAs with Apelin expression in visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT).</p><p><strong>Methods: </strong>We obtained VAT and SAT from 168 participants (64 nonobese and 104 obese) who had undergone open abdominal surgery. Dietary intake information was gathered with a valid and reliable food frequency questionnaire. The mRNA expression of the Apelin gene was analyzed by real-time PCR.</p><p><strong>Results: </strong>Apelin serum levels were increased in the obese subjects compared to the nonobese group (p = 0.016). The SAT and VAT Apelin mRNA levels were significantly elevated in the obese participants compared to the nonobese ones (p < 0.05). Based on BMI status, only obese subjects indicated a positive association between SAT and VAT Apelin expression and TFA intake (p < 0.001). However, this association was observed between SAT and VAT Apelin gene expression and polyunsaturated fatty acid (PUFA) and n-3 FA intakes in both obese and nonobese groups (p < 0.05).</p><p><strong>Conclusion: </strong>High Apelin gene expression was associated with TFA intake in obese subjects in both fat tissues. However, habitual intake of PUFA and n-3 FA was associated with Apelin gene expression in obese and nonobese individuals. Our results indicate a determinative role of the quality and quantity of FA intake on adipose tissue.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"16-23"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10738492","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}

{"title":"Call to Action for Advancing Equitable Genomic Newborn Screening.","authors":"Anne L Ersig, Cheedy Jaja, Audrey Tluczek","doi":"10.1159/000534648","DOIUrl":"10.1159/000534648","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"188-193"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664321/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41240253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Digital Health Tools in Genomics: Advancing Diversity, Equity, and Inclusion.","authors":"Daniel Assamad, Safa Majeed, Vernie Aguda, Sonya Grewal, Carly Butkowsky, Marc Clausen, Guylaine D'Amours, Yvonne Bombard","doi":"10.1159/000534804","DOIUrl":"10.1159/000534804","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"194-200"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54231908","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}

{"title":"Factors Influencing Genetic Screening Enrollment among a Diverse, Community-Ascertained Cohort.","authors":"Nandana D Rao, Jailanie Kaganovsky, Stephanie M Fullerton, Annie T Chen, Brian H Shirts","doi":"10.1159/000531989","DOIUrl":"10.1159/000531989","url":null,"abstract":"<p><strong>Introduction: </strong>Genetic screening for preventable adult-onset hereditary conditions has been proposed as a mechanism to reduce health disparities. Analysis of how race and ethnicity influence decision-making to receive screening can inform recruitment efforts and more equitable population screening design. A study at the University of Washington Medicine that invited unselected patients to participate in genetic screening for pathogenic variation in medically important genes provided an opportunity to evaluate these factors.</p><p><strong>Methods: </strong>We analyzed screening enrollee survey data to understand factors most important and least important in decision-making about screening overall and across different race and ethnicity groups. Electronic health record race and ethnicity and survey-reported race and ethnicity were compared to assist with interpretation. Comments provided about reasons for not enrolling in screening were analyzed using content analysis.</p><p><strong>Results: </strong>Overall, learning about disease risk and identifying risk early for prevention purposes were important factors in decision-making to receive screening, and regrets about screening and screening being against one's moral code were not viewed as important. Although racial identity was challenging to assign in all cases, compared to other enrollees, African-American and Asian enrollees considered test accuracy and knowing more about the test to be of greater importance. Three themes emerged related to nonparticipation: benefits do not outweigh risks, don't want to know, and challenges with study logistics.</p><p><strong>Conclusion: </strong>Our results highlight important motivators for receiving screening and areas that can be addressed to increase screening interest and accessibility. This knowledge can inform future population screening program design including recruitment and education approaches.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"113-122"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10614558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10038770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}