Nora B Henrikson, Aaron Scrol, Jamilyn M Zepp, Melissa L Anderson, Paula R Blasi, John J Ewing, Jane Grafton, James D Ralston, Stephanie M Fullerton, Kathleen A Leppig
{"title":"Health System-Led Early Consent and Direct Contact of At-Risk Relatives: Pilot Study Results.","authors":"Nora B Henrikson, Aaron Scrol, Jamilyn M Zepp, Melissa L Anderson, Paula R Blasi, John J Ewing, Jane Grafton, James D Ralston, Stephanie M Fullerton, Kathleen A Leppig","doi":"10.1159/000545404","DOIUrl":"10.1159/000545404","url":null,"abstract":"<p><strong>Introduction: </strong>At-risk relatives of probands with genetic variants associated with hereditary cancer risk should receive cascade genetic testing. In the USA, probands are expected to notify their own at-risk relatives, but many relatives never learn of their risk, representing missed opportunity to reduce morbidity and mortality associated with hereditary cancers. Direct contact of relatives could reach relatives not contacted by the proband. We conducted a single-arm, prospective pilot evaluation of a direct contact intervention based on patient and family preferences. Here, we report the study's quantitative results, measured by proband and relative participation in the intervention follow-up survey.</p><p><strong>Methods: </strong>We recruited adults receiving genetic counseling for inherited cancer risk at one US integrated health system. A genetic counselor offered to contact at-risk relatives. We surveyed probands and relatives at study enrollment and 6-8 weeks and evaluated administrative data to assess the program's outreach to probands and relatives, its acceptability, and its limited efficacy.</p><p><strong>Results: </strong>We approached 148 probands before their genetic counseling appointment. Fifty-five (37%) consented to study participation. Of these, 31 completed genetic testing, 29 of whom provided consent to contact 101 relatives. Forty-four percent (n = 45) of relatives consented to be contacted by the study genetic counselor. Acceptability was high for both groups and no harms were reported. All relatives reached (n = 43) received their proband's test results, including 6 pathogenic/likely pathogenic findings.</p><p><strong>Conclusion: </strong>A direct contact program was acceptable, reached at-risk relatives, and communicated proband test results. Direct contact with early consent of relatives holds promise for future research.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"150-162"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12074871/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781744","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}
Jacqueline A Odgis, Nicole R Kelly, Monisha Sebastin, Laura Golfinopoulos, Beverly J Insel, Sabrina A Suckiel, Katherine E Bonini, Priya N Marathe, Miranda Di Biase, Kaitlyn Brown, Katie M Gallagher, Michelle A Ramos, Jessica E Rodriguez, Nicole Yelton, Karla López Aguiñiga, Michelle A Rodriguez, Estefany María, Jessenia Lopez, Randi E Zinberg, George A Diaz, John M Greally, Noura S Abul-Husn, Laurie J Bauman, Bruce D Gelb, Carol R Horowitz, Eimear E Kenny, Melissa P Wasserstein
{"title":"Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study.","authors":"Jacqueline A Odgis, Nicole R Kelly, Monisha Sebastin, Laura Golfinopoulos, Beverly J Insel, Sabrina A Suckiel, Katherine E Bonini, Priya N Marathe, Miranda Di Biase, Kaitlyn Brown, Katie M Gallagher, Michelle A Ramos, Jessica E Rodriguez, Nicole Yelton, Karla López Aguiñiga, Michelle A Rodriguez, Estefany María, Jessenia Lopez, Randi E Zinberg, George A Diaz, John M Greally, Noura S Abul-Husn, Laurie J Bauman, Bruce D Gelb, Carol R Horowitz, Eimear E Kenny, Melissa P Wasserstein","doi":"10.1159/000542444","DOIUrl":"10.1159/000542444","url":null,"abstract":"<p><strong>Introduction: </strong>Telehealth genetic counseling is comparable to in-person visits in terms of satisfaction, knowledge, and psychological outcomes, but using visual aids can be challenging on telehealth platforms. This pilot study assessed if the \"screen-sharing\" feature via Zoom to display visual aids during results disclosure sessions positively impacted parental experience and comprehension of their child's genomic results, especially in underrepresented groups and those with limited English proficiency.</p><p><strong>Methods: </strong>In the TeleKidSeq pilot study, 409 children with suspected genetic conditions underwent genome sequencing. Families were randomized to receive genomic results via televisits with (ScrS) or without (NScrS) screen-sharing of visual aids. Spanish- or English-speaking parents/legal guardians completed surveys at three time points to assess perceived and objective understanding, perceived confidence, and telehealth experience. Regression models evaluated the effect of screen-sharing over time.</p><p><strong>Results: </strong>Overall, understanding and telehealth experience ratings were high, with no significant differences between the ScrS (N = 192) and NScrS (N = 200) arms with regard to perceived (p = 0.32) or objective (p = 0.94) understanding, confidence (p = 0.14) over time, or telehealth experience (p = 0.10). When stratifying by sociodemographic characteristics and type of device used during results disclosure, we observed subtle differences in the effect of screen-sharing within some subgroups.</p><p><strong>Conclusion: </strong>While screen-sharing had no significant impact on overall outcomes, we identified modest effects of screen-sharing within population groups that highlight the need for tailored communication strategies to ensure diverse, multilingual communities derive equitable benefit from telehealth-based genomic results disclosure. Future research is needed to determine whether certain types of visual aids best enhance genomic results disclosure in larger, more robust studies designed to detect smaller effects and subgroup differences.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"85-101"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11839312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015181","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":"From Genes to Public Health: The Journey Continues!","authors":"Muin J Khoury","doi":"10.1159/000545406","DOIUrl":"https://doi.org/10.1159/000545406","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"28 1","pages":"144-149"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049217","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}
Margaret Waltz, Ann Katherine M Foreman, Rebecca A Gibson, Samantha Schilling, Laura V Milko, Rachel Phillips, Julianne M O'Daniel, Stefanija Giric, Kimberly Foss, Elizabeth K Branch, Neal A DeJong, Michelle L Hernandez, Bradford C Powell, Jonathan S Berg, R Jean Cadigan, Megan C Roberts
{"title":"Age-Based Genomic Screening: Pediatric Providers' Perspectives on Implementation.","authors":"Margaret Waltz, Ann Katherine M Foreman, Rebecca A Gibson, Samantha Schilling, Laura V Milko, Rachel Phillips, Julianne M O'Daniel, Stefanija Giric, Kimberly Foss, Elizabeth K Branch, Neal A DeJong, Michelle L Hernandez, Bradford C Powell, Jonathan S Berg, R Jean Cadigan, Megan C Roberts","doi":"10.1159/000545839","DOIUrl":"10.1159/000545839","url":null,"abstract":"<p><strong>Introduction: </strong>As genomic technologies and therapies advance, paired with increasing clinical knowledge and declining sequencing cost, the scope of DNA-based preventive pediatric screening is expected to expand. Age-Based Genomic Screening (ABGS) is an approach that proposes to integrate targeted genomic sequencing for highly actionable genetic conditions into routine well-child care at specific time points aligned with optimal interventions. Prior to the clinical implementation of ABGS in pediatric primary care, however, it is necessary to investigate the factors that may affect its adoption.</p><p><strong>Methods: </strong>We conducted 20 interviews with providers from 11 clinics across North Carolina. Interviews lasted approximately 45 min, and rapid qualitative analysis was conducted using an analytic matrix.</p><p><strong>Results: </strong>Interviewees stated that, in general, implementation of ABGS would be feasible but identified several barriers, including providers' potential discomfort discussing genomic screening and returning results as well as broader concerns about the potential to exacerbate health disparities. Providers also noted potential challenges affecting interest from patients and families, such as caregiver anxiety while awaiting results, patient apprehension regarding invasive sample collection methods (like blood draws), and a general lack of trust in government and medical institutions.</p><p><strong>Conclusion: </strong>While ABGS was viewed as feasible, the identified barriers emphasize the importance of piloting this approach, particularly in terms of potential exacerbation of health disparities. These findings are useful to guide early development and assessment of efforts like ABGS and may also be applicable to broader integration of genomic screening into primary care.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"180-189"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12133400/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144041967","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}
Ella Anghel, María Pineros-Leano, Isabella R McDonald, Andrew A Dwyer
{"title":"Psychometric Properties of a Culturally Adapted Spanish Version of the Attitudes toward Genomics and Precision Medicine Instrument.","authors":"Ella Anghel, María Pineros-Leano, Isabella R McDonald, Andrew A Dwyer","doi":"10.1159/000546101","DOIUrl":"10.1159/000546101","url":null,"abstract":"<p><strong>Introduction: </strong>There is evidence of growing racial and ethnic disparities in genomic healthcare and precision medicine. Validated survey instruments and measures are required to understand the needs of diverse populations to appropriately tailor person-centered approaches and end disparities in genomic healthcare and precision medicine.</p><p><strong>Methods: </strong>We aimed to examine the psychometric properties of a culturally adapted Spanish version of the Attitudes toward Genomics and Precision Medicine (AGPM). First, we culturally adapted the AGPM. We then conducted a web-based evaluation of the Spanish AGPM in a cohort of 486 individuals identifying as Hispanic to establish the Spanish version's reliability, factor structure, and measurement invariance relative to the English version. We also compared AGPM responses between Spanish- and English-speaking Hispanic individuals.</p><p><strong>Results: </strong>The Spanish version of the AGPM demonstrates robust internal consistency with Cronbach alpha ranging from 0.84 to 0.98 across domains. All AGPM items significantly loaded on their respective factor (p < 0.001). Configural, metric, strict, and residual invariance models all met absolute and relative fit criteria. Significant differences were observed between Spanish- and English-speaking participants in some AGPM subscales.</p><p><strong>Conclusions: </strong>The Spanish version of the AGPM demonstrates sound psychometric properties and may be useful for informing culturally empowered approaches to genomic healthcare and precision medicine for people identifying as Hispanic.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"196-204"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187021/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144065122","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":"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 < 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":" ","pages":"74-82"},"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}
{"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":"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 toward nonspecialist 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 nonexpert 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 laboratory accuracy and variant interpretation, and did not reassess results.</p><p><strong>Conclusion: </strong>We find significant variation in how genetics experts and nonexperts 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":" ","pages":"228-232"},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11588501/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"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":"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 2-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 for 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":" ","pages":"210-227"},"PeriodicalIF":1.3,"publicationDate":"2024-01-01","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}
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":" ","pages":"110-123"},"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}
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 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}