Public Health Genomics最新文献

{"title":"\"I Didn't Have to Worry about It\": Patient and Family Experiences with Health System Involvement in Notifying Relatives of Genetic Test Results.","authors":"Paula Rae Blasi, Jamilyn M Zepp, Aaron Scrol, John Ewing, Melissa L Anderson, James D Ralston, Stephanie M Fullerton, Kathleen Leppig, Nora B Henrikson","doi":"10.1159/000541532","DOIUrl":"10.1159/000541532","url":null,"abstract":"<p><strong>Introduction: </strong>In the USA, patients who undergo genetic testing for hereditary cancer risk are responsible for informing relatives about their genetic test results, but many relatives never find out they might be at risk. A health system-mediated relative notification program might help fill this gap, but questions remain about the acceptability of this approach.</p><p><strong>Methods: </strong>We analyzed qualitative data from a single-arm, nonrandomized, mixed-methods study to understand how patients and families experienced a new health system-mediated relative notification program. We invited all study participants to participate in semi-structured telephone interviews at 6-8 weeks after return of genetic test results. We used a template analysis approach to thematically analyze interview transcripts.</p><p><strong>Results: </strong>We interviewed 32 participants, including 17 probands and 15 relatives. Relatives reported positive experiences with the notification program, noting they felt in control of decisions and appreciated genetic counselor involvement in communicating the proband's test results. Benefits of direct contact included reduced burden for probands, increased family discussions about health, and notification of relatives who otherwise would not have learned results. No participants reported adverse effects from the program.</p><p><strong>Conclusion: </strong>Overall, the relative notification program was acceptable to participants and supported probands in reaching at-risk relatives who otherwise might not have been notified. These findings could inform the implementation of future genetic risk family notification programs with the potential to improve uptake of cascade testing and advance cancer prevention and early detection efforts.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"150-160"},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11530079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142330972","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":"\"Should I Let Them Know I Have This?\": Multifaceted Genetic Discrimination and Limited Awareness of Legal Protections among 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":"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 and 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>Seventy-three 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 Nondiscrimination Act's protective intent but demonstrated limited knowledge of its existence and provisions. Limited knowledge, coupled with policy constraints in non-legislative 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 disconnection between the intended protective effects of genetic nondiscrimination 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 nondiscrimination legal protections.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"240-254"},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","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}

{"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":" ","pages":"16-22"},"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}

{"title":"Results from the Delivery of a Community Health Worker Training to Advance Competencies in Cancer Genomics.","authors":"Caitlin G Allen, Ashley Hatch, Elizabeth Hill, Suparna Qanungo, Marvella Ford, Sarah Tucker Price, LaQuisha Umemba","doi":"10.1159/000539595","DOIUrl":"10.1159/000539595","url":null,"abstract":"<p><strong>Introduction: </strong>Less than half of eligible Black women are assessed for genetic risk and only 28% engage in recommended hereditary breast and ovarian cancer (HBOC) risk-reducing interventions. CHWs are trusted individuals that work as a liaison between health systems and the community to improve access to services and support cancer prevention efforts, though they are an overlooked resource to support genetic risk assessment. To address the need and training gaps for CHWs, we developed and assessed an online training program to build CHW's competencies in cancer genomics and use of health information technologies to navigate high-risk individuals to appropriate genetic services.</p><p><strong>Methods: </strong>The curriculum and 10 training modules were developed through engaging a panel of experts in a three-round Delphi process. Recruitment focused on CHWs who worked in clinical settings or groups providing outreach or health services to Black women. We assessed: changes in knowledge and attitudes about HBOC and genomics, as well as the perceptions about the quality and implementation of the training.</p><p><strong>Results: </strong>Forty-six individuals expressed interest in the training after recruitment. Thirty eight individuals were eligible for the training and 26 completed the course. We found improvements in knowledge and genomics competencies immediately post-course, but the majority of these improvements were not sustained at 3-month follow-up. The training was highly rated for its relevance to CHW work and overall delivery. Top rated sessions included HBOC overview and family history collection. On average, participants reported discussing HBOC with 17 individuals at 3-month follow-up.</p><p><strong>Conclusion: </strong>Championing a diverse cancer and genomics workforce can help address the goals of the National Cancer Plan to improve early detection and health equity. Through this training, CHWs gained critical cancer and genomics knowledge that was then applied to their primary roles.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"83-95"},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141201111","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":"Understanding Social, Cultural, and Religious Factors Influencing Medical Decision-Making on BRCA1/2 Genetic Testing in the Orthodox Jewish Community.","authors":"Haeseung Yi, Meghna S Trivedi, Katherine D Crew, Isaac Schechter, Paul Appelbaum, Wendy K Chung, John P Allegrante, Rita Kukafka","doi":"10.1159/000536391","DOIUrl":"10.1159/000536391","url":null,"abstract":"<p><strong>Introduction: </strong>Although the prevalence of a pathogenic variant in the BRCA1 and BRCA2 genes is about 1:400 (0.25%) in the general population, the prevalence is as high as 1:40 (2.5%) among the Ashkenazi Jewish population. Despite cost-effective preventive measures for mutation carriers, Orthodox Jews constitute a cultural and religious group that requires different approaches to BRCA1 and BRCA2 genetic testing relative to other groups. This study analyzed a dialog of key stakeholders and community members to explore factors that influence decision-making about BRCA1 and BRCA2 genetic testing in the New York Orthodox Jewish community.</p><p><strong>Methods: </strong>Qualitative research methods, based on Grounded Theory and Narrative Research, were utilized to analyze the narrative data collected from 49 key stakeholders and community members. A content analysis was conducted to identify themes; inter-rater reliability was 71%.</p><p><strong>Results: </strong>Facilitators of genetic testing were a desire for preventive interventions and education, while barriers to genetic testing included negative emotions, feared impact on family/romantic relationships, cost, and stigma. Views differed on the role of religious leaders and healthcare professionals in medical decision-making. Education, health, and community were discussed as influential factors, and concerns were expressed about disclosure, implementation, and information needs.</p><p><strong>Conclusion: </strong>This study elicited the opinions of Orthodox Jewish women (decision-makers) and key stakeholders (influencers) who play critical roles in the medical decision-making process. The findings have broad implications for engaging community stakeholders within faith-based or culturally distinct groups to ensure better utilization of healthcare services for cancer screening and prevention designed to improve population health.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"57-67"},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974211","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":"Next-Generation Public Health Genomics: A Call to Assess the Equitable Implementation, Population Health Impact, and Sustainability of Precision Public Health Applications.","authors":"Megan C Roberts, Caitlin G Allen","doi":"10.1159/000535579","DOIUrl":"10.1159/000535579","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"30-34"},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832620","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":"Community Voices and Whole-Genome Sequencing for Tuberculosis: Storytelling and the Importance of Listening.","authors":"Justin T Denholm, Diego S Silva","doi":"10.1159/000537727","DOIUrl":"10.1159/000537727","url":null,"abstract":"<p><p>One of the primary public health functions of a tuberculosis (TB) program is to arrest the spread of infection. Traditionally, TB programs have relied on epidemiological information, gathered through contact tracing, to infer that transmission has occurred between people. The ability of drawing such inferences is extensively context dependent. Where epidemiological information has been strong, such as 2 cases of TB occurring sequentially within a single household, confidence in such inferences is high; conversely, public health authorities have been less certain about the significance of TB cases merely occurring in the same wider social group or geographic area. Many current laboratory tests for TB used globally may be sufficient to confirm a diagnosis and guide appropriate therapy but still be insufficiently precise for distinguishing two strains reliably. In short, drawing inferences regarding a chain of transmissions has always been as much art as science.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"68-73"},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140177378","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":"Streamlined Genetic Education and Cascade Testing in Men from Hereditary Breast Ovarian Cancer Families: A Randomized Trial.","authors":"Christopher Grisham, Beth N Peshkin, Lia Sorgen, Claudine Isaacs, Mary Kathleen Ladd, Aryana Jacobs, Savannah Binion, Mara Tynan, Emily Kuchinsky, Susan Friedman, Kathryn L Taylor, Kristi Graves, Suzanne O'Neill, David Kim, Marc D Schwartz","doi":"10.1159/000540466","DOIUrl":"10.1159/000540466","url":null,"abstract":"<p><strong>Introduction: </strong>When a pathogenic BRCA1 or BRCA2 mutation is identified in a family, cascade genetic testing of family members is recommended since the results may inform screening or treatment decisions in men and women. However, rates of cascade testing are low, and men are considerably less likely than women to pursue cascade testing. To facilitate cascade testing in men, we designed a Web-based genetic education tool that addressed barriers to cascade testing, was individually tailored, delivered proactively, and could be used in lieu of pretest genetic counseling to streamline the cascade testing process.</p><p><strong>Methods: </strong>We randomized 63 untested men from hereditary cancer families to Web-based genetic education (WGE) versus enhanced usual care (EUC). WGE participants were provided access to a genetic education website after which they could accept or decline genetic testing or opt for pretest genetic counseling. EUC participants received an informational brochure and a letter informing them of their eligibility for genetic testing and recommending they schedule genetic counseling. The primary outcome was the uptake of genetic testing.</p><p><strong>Results: </strong>Men in the WGE group were more likely to complete genetic counseling and/or genetic testing (43% vs. 12.1%; χ2 [n = 63, df = 1] = 7.77, p = 0.005). WGE participants were also more likely to complete genetic testing compared to men in the EUC group (30% vs. 9.1%; χ2 [n = 63, df = 1] = 4.46, p = 0.03).</p><p><strong>Conclusion: </strong>This preliminary trial suggests that a streamlined approach to genetic testing using proactively delivered genetic education may reduce barriers to cascade testing for at-risk men, leading to increased uptake. These results should be interpreted cautiously given the select sample and high rate of non-response.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"27 1","pages":"100-109"},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407795/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037496","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":"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":"10.1159/000541577","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"161-167"},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","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}

{"title":"'If I Knew More… I Would Feel Less Worried': Filipino Americans' Attitudes and Knowledge of Genetic Disease, Counseling, and Testing.","authors":"Casey R Scherer, Debra Duquette, Priscila D Hodges, Maricar Macalincag, Jennifer Shin, Jennifer L Young","doi":"10.1159/000536173","DOIUrl":"10.1159/000536173","url":null,"abstract":"<p><strong>Introduction: </strong>The field of genetics is rapidly expanding and people are increasingly utilizing genetic testing and counseling services. However, the current literature on genetic health topics and Filipinos remains limited, as many minority populations are not adequately studied. This study describes Filipino Americans' attitudes and knowledge of genetic disease, genetic testing, and genetic counseling. To address these knowledge gaps and reduce the burden of health disparities, the informational needs of Filipino Americans regarding genetic disease and genetic services must be understood in order to better tailor these services and outreach methods.</p><p><strong>Methods: </strong>Fifteen semi-structured, qualitative interviews were held with individuals who self-identified as Filipino American between November 2022 and January 2023. Interviews were transcribed and coded using an iterative process.</p><p><strong>Results: </strong>Most participants were familiar with genetic disease and believed that factors such as biology, as well as cultural factors such as upbringing and food, contributed to its development. The majority of participants had previously heard of genetic testing; however, most participants either did not know much or were only familiar with ancestry direct-to-consumer genetic testing (DTC-GT). Most participants had not heard of genetic counseling and those that had heard of genetic counseling before did not understand its purpose. Overall, most participants had a positive attitude toward genetic testing and counseling. Participants identified the benefits of these services including genetic disease prevention, management, and treatment. Participants stressed the importance of educating the Filipino community and shared their ideas for how to implement outreach efforts.</p><p><strong>Discussion/conclusion: </strong>This study found that Filipino Americans generally had a positive outlook on genetic testing and genetic counseling. We propose participant-generated ideas for outreach and education that may help inform future public health efforts that aim to educate this population about genetic disease, testing and counseling.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"35-44"},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139418452","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}