Public Health Genomics最新文献

{"title":"Interest in Genetic Testing for Hereditary Cancer Risk: Associations with Genetic Familiarity, Self-Efficacy, and Sociodemographics.","authors":"DaLaina Marie Cameron, Emerson Dusic, Tesla Nikola Theoryn, Faith Beers, Sarah Knerr, Catharine Wang, Deborah Bowen, Elizabeth Swisher","doi":"10.1159/000552069","DOIUrl":"https://doi.org/10.1159/000552069","url":null,"abstract":"<p><strong>Introduction: </strong>Genetic testing (GT) for hereditary cancer risk enables early detection and prevention, yet many individuals who could benefit do not pursue testing. Limited genetic familiarity and lower genetic self-efficacy may act as barriers. This study examined relationships among patient-reported genetic familiarity, genetic self-efficacy, sociodemographic characteristics, and interest in GT.</p><p><strong>Methods: </strong>Data were drawn from the Early Detection of Genetic Risk (EDGE) baseline survey (n = 2,319), distributed to a random sample of patients aged ≥25 years from participating primary care clinics in Washington, Montana, and Wyoming. Patients were contacted via email and mailed letter in January 2021, prior to implementation of the EDGE intervention. Bivariate logistic regression assessed associations between sociodemographic factors and genetic familiarity and self-efficacy. Multivariable logistic regression examined independent associations between sociodemographic factors, genetic familiarity, genetic self-efficacy, and interest in GT.</p><p><strong>Results: </strong>In multivariable analyses, higher genetic familiarity was strongly associated with interest in GT (adjusted odds ratio [aOR] = 2.67; 95% CI: 1.47-4.86). Higher income (aOR = 2.43; 95% CI: 1.43-4.13) and female sex compared with male (aOR = 1.80; 95% CI: 1.16-2.40) were also positively associated with interest in GT. Participants aged over 65 years were significantly less likely to express interest in GT (aOR = 0.28; 95% CI: 0.13-0.60).</p><p><strong>Conclusion: </strong>The strong association between genetic familiarity and interest in GT suggests that increasing basic genetic knowledge may be an effective starting point for educational interventions aimed at improving testing uptake. Understanding drivers of interest in GT can inform targeted strategies to enhance hereditary cancer prevention and early detection efforts.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-14"},"PeriodicalIF":1.5,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147700085","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":"Implementing Genomic Medicine in a Federally Qualified Health Center: Assessing Readiness through a Mixed-Methods Approach.","authors":"Emory William Heffernan, Paramita Das, Larry Hearld, Catanya G Stager, Samantha Whitfield, Irene Moss, Tiffany Osborne, Alex Zayzafoon, Christopher Mosely, Bruce Korf, Nita Limdi, Lori Brand Bateman","doi":"10.1159/000551310","DOIUrl":"10.1159/000551310","url":null,"abstract":"<p><strong>Introduction: </strong>Genomic medicine enables early detection of treatable conditions and supports personalized care across all populations; however, evidence guiding its implementation in resource-constrained healthcare settings remains limited.</p><p><strong>Methods: </strong>Using a mixed-methods approach, this study evaluated the readiness of an Alabama Federally Qualified Health Center (FQHC) to implement genomic medicine as part of routine clinical care. Staff members (e.g., physicians, nurses, medical assistants, and administrators) completed surveys, individual interviews, a concept-mapping session, and a nominal group technique exercise.</p><p><strong>Results: </strong>Study participants included 13 clinic members. Interviews and mapping revealed three dominant barriers: staffing shortages, financial constraints, and language obstacles. Facilitators included strong commitment to quality care, alignment with the clinic mission, and supportive leadership. Survey results (N = 12) revealed mean scores in the positive range for culture, learning climate, and leadership engagement, whereas scores for stress, available resources, and readiness for change were nearer to the neutral midpoint, suggesting potential practical constraints on genomic implementation. The use of the CFIR-ERIC Implementation Strategy Matching Tool allowed the team and participants to evaluate nine candidate strategies, prioritizing those with high feasibility and impact. The evaluation was visually developed into an impact matrix which placed patient and family involvement, tailored educational materials, educational meetings, and designated genomic-medicine leadership in the high-feasibility / high-impact quadrant. These strategies directly address identified barriers and fit existing clinic strengths, which is important for equitable precision-medicine adoption.</p><p><strong>Conclusion: </strong>Findings indicate that FQHCs can advance genomic services through culturally attuned patient engagement, structured provider training, and clear leadership roles.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-18"},"PeriodicalIF":1.5,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13087925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147391535","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":"A value-based evaluation framework for guiding the adoption and scale-up of cancer genomics interventions.","authors":"Gerard Solís-Díez, Claudia Prats, Victòria Valls-Comamala, José M Castellano-García, Roser Mias, Ana Molina-Barceló, Paula Romeo-Cervera, Marina Pinto-Carbó, Valesca P Retèl, Lucas van Schaik, Marc Van Den Bulcke, Els Van Valckenborgh, Ramon Maspons, Rossana Alessandrello","doi":"10.1159/000551155","DOIUrl":"https://doi.org/10.1159/000551155","url":null,"abstract":"<p><p>Introduction Cancer imposes a substantial burden characterized by high morbidity and mortality, reduced quality of life, and increased healthcare costs. This burden is expected to rise due to aging populations and persistent exposure to risk factors. Although emerging cancer technologies hold promise for improving clinical and economic outcomes across the care continuum, translating research findings into routine clinical practice remains a major bottleneck. The European Commission has prioritized addressing this challenge by fostering the rapid adoption of safer and more effective interventions. As part of its strategic plan, the European Union (EU) has launched research and innovation initiatives aimed at integrating cancer genomic technologies into public health and clinical systems. The CAN.HEAL evaluation framework presents a structured approach to classifying innovative cancer-related interventions by maturity level and to guide researchers and decision makers in supporting adoption and scale-up efforts. Methods The evaluation framework was developed within the CAN.HEAL consortium, under the EU strategic cancer initiative that funded this research and innovation action, and agreed upon a consensus-based, iterative methodology including the stakeholders perspectives. Key steps included landscape analysis, identification of key actions, structured discussions, expert consultations, and pilot testing of the assessment tool. The selected dimensions-grounded in equity, early health technology assessment (HTA), and innovation adoption principles-were hierarchically organized into subdomains, domains, and three overarching dimensions. A two-step scoring system was used to assess each key actions across planning/definition and execution stages, with weighted final scores. The CAN.HEAL evaluation framework defines three adoption-readiness levels, ranging from implementation at the healthcare provider level to integration across multiple healthcare systems. A structured 71- key actions assessment tool, organized into three dimensions, was used to determine each intervention level: (1) equity-capacity building, research equity, and access; (2) impact assessment-early clinical development, cost considerations, and broader value; and (3) implementation, adoption, and scale-up readiness-desirability, feasibility, and viability from developer and adopter perspectives, including reimbursement pathways. Conclusion The CAN.HEAL evaluation framework is designed to offer a systematic, evidence-informed approach to assessing the adoption readiness of cancer-related innovations. Further validation in cross-border, real-world settings is needed to ensure practical utility and scalability.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-31"},"PeriodicalIF":1.5,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147345520","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":"Single Nucleotide Polymorphisms in Orexin-1 and BDNF Receptor Genes are Associated with Increased Risk of Developing Postpartum Depression among Women with Gestational Diabetes Mellitus.","authors":"Pasha Ghazal, Shanza Tariq, Tehniyat Munshi","doi":"10.1159/000550243","DOIUrl":"10.1159/000550243","url":null,"abstract":"<p><strong>Introduction: </strong>Global studies have shown a bidirectional association of gestational diabetes mellitus (GDM) with postpartum depression (PPD). Despite high GDM prevalence in Pakistan (3.3%-17.8%), no prior studies have explored its link with PPD. In this study, association between GDM and risk of developing PPD was investigated and risk factors for PPD were identified using the gold-standard Edinburgh Postnatal Depression Scale (EPDS). Evidence suggests that PPD has strong genetic basis. The BDNF gene is a known candidate for PPD pathogenesis, while the orexin system is linked to arousal, energy metabolism, with emerging role in neuropsychiatric disorders. This study is the first study to explore association of orexin SNP ORX1 10914456 with PPD together with the BDNF SNP rs6265 (Val/Met66), among participants with and without GDM diagnosis.</p><p><strong>Methods: </strong>Among 1,000 women approached in hospitals of Islamabad, Rawalpindi, 800 met inclusion criteria (400 GDM, 400 non-GDM controls) and were genotyped for BDNF and orexin SNPs. Participants completed the EPDS 1 week postpartum.</p><p><strong>Results: </strong>Using a cutoff of ≥13, 84.9% of GDM patients and 18% of non-GDM controls scored ≥13 on EPDS (χ2 = 78.337, p < 0.00001). Multivariate logistic regression revealed GDM diagnosis, BMI >25, fasting plasma glucose >126 mg/dL, 31-39-week gestation, <12 years of education, and urban locality as significant risk factors for PPD. GDM diagnosis increased odds of PPD by 2.5-fold (OR = 2.5, 95% CI: 21.48-4.31, p < 0.0001). The orexin SNP Orx1 10914456, CC genotype and BDNF SNP rs6265, AA genotype increased the odds of having higher EPDS scores in GDM patients by 3.11 (OR = 3.11, 95% CI: 1.29-7.47, p < 0.001) and 3.3 (OR = 3.3, 95% CI: 1.31-8.13, p = 0.04, p < 0.05), respectively, in comparison to other genotypic variants.</p><p><strong>Conclusion: </strong>Our study supports orexin and BDNF system-targeted therapies for PPD.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"39-54"},"PeriodicalIF":1.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13008399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147318742","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":"Implementation of the National Collegiate Athletic Association Sickle Cell Trait Screening Policy: Methods and Staff and Athlete Perspectives.","authors":"Kristen L Kucera, Robert P Agans, Paul A Robbins, Yingwei Yang, Mary Anne McDonald, Paul H Haagen, Mina Silberberg, Lorrie Schmid, Deborah L Marean, Charmaine D M Royal","doi":"10.1159/000550672","DOIUrl":"10.1159/000550672","url":null,"abstract":"<p><strong>Introduction: </strong>This paper describes methods for a national study evaluating the implementation of the National Collegiate Athletic Association's (NCAA) policy on sickle cell trait (SCT) screening of athletes and describes attitudes toward the screening.</p><p><strong>Methods: </strong>In Fall 2020, 343 Division I schools, 302 Division II schools, and 426 Division III schools were invited to participate in this national survey.</p><p><strong>Results: </strong>Across 123 participating schools, a total of 168 sport medicine administrators (121 head athletic trainers and 47 team physicians), 268 athletic staff (128 staff athletic trainers and 140 coaches), and 1,424 athletes from basketball, football, soccer, lacrosse, track and field completed the survey. While the vast majority of respondents agreed/strongly agreed with the screening policy, there was varying support for how the policy was implemented including prioritizing SCT screening versus screening for other conditions (40-50% agreed/strongly agreed), focusing on sports with higher risk of overexertion versus universal screening (50-75% agreed/strongly agreed), and focusing on racial and ethnic groups where SCT is more prevalent (25-40% agreed/strongly agreed). Perspectives varied by NCAA division and race. Higher SCT knowledge scores were associated with believing that screening all athletes for SCT is important.</p><p><strong>Conclusions: </strong>Discussion of these findings provides important context for assessing how genetic screening requirements are implemented within collegiate athletics and more broadly.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"94-108"},"PeriodicalIF":1.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13134841/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146214158","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":"Beyond the Flush: Reframing ALDH2 Deficiency as a Public Health Risk.","authors":"Jennifer L Young, Fiona Seung","doi":"10.1159/000549941","DOIUrl":"10.1159/000549941","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"21-26"},"PeriodicalIF":1.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12958364/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146127125","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":"Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024.","authors":"Yutaka Furuta, Neena S Agrawal, Natalie N Owen, Lisa A Bastarache, Cathy Shyr, Hanabi U Geiger, Shayna Jackson, Chelsea J Lauderdale, Camille R Carter, Karee A Morgan, Rizwan Hamid, John A Phillips Iii, Rory J Tinker","doi":"10.1159/000551086","DOIUrl":"10.1159/000551086","url":null,"abstract":"<p><strong>Introduction: </strong>Fabry disease (FD) is an X-linked lysosomal storage disease caused by alpha-galactosidase A (aGAL) deficiency. Newborn screening (NBS) programs for FD have been implemented in several US states; however, its effectiveness in identifying affected females remains uncertain. We hypothesized that sex-specific inequality of NBS-based detection of FD results in different diagnostic pathways for males and females with FD.</p><p><strong>Methods: </strong>We compared diagnostic approaches for males and females with FD using Tennessee NBS results and Vanderbilt Lysosomal Storage Disorders Database (VLSDD). Sex-specific detection differences were assessed using Fisher's exact test (α = 0.05).</p><p><strong>Results: </strong>Tennessee NBS identified 25 males but no females with FD from 2017 to 2024. In VLSDD, among 81 individuals with FD, sex distribution was nearly equal (42 males, 39 females). Among males, 26/42 (62%) were diagnosed via NBS, 7/42 (17%) through known family history, and 9/42 (21%) based on clinical symptoms. All 16 males diagnosed through non-NBS were born before its implementation. In contrast, none of the 39 females were diagnosed through NBS (p value <0.05). Of these, 13/39 (33%) were diagnosed through cascade testing following their sons' detection by NBS, with a median age at diagnosis of 28 years (25th-75th percentile: 24.5-34.0). Of the remaining 26 females, 12/26 (46%) were diagnosed after a family member was diagnosed through clinical symptoms and 14/26 (54%) were diagnosed through clinical symptoms.</p><p><strong>Conclusions: </strong>NBS effectively identifies affected males but fails to detect females with FD, though it can indirectly facilitate diagnosis of older female relatives.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"73-82"},"PeriodicalIF":1.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13061393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146214474","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":"What Makes Families SHARE: The Family Communication Environments of Disseminators and Non-Disseminators of Family Cancer History.","authors":"Danyel I Smith, Beverly Estrada Balcarcel, Raegan Bishop, Laura M Koehly, Chiranjeev Dash","doi":"10.1159/000550643","DOIUrl":"10.1159/000550643","url":null,"abstract":"<p><strong>Introduction: </strong>Family cancer history (FCH) provides insight into cancer risk and can guide prevention efforts. Black Americans experience high cancer burden and report several barriers to FCH knowledge due to family communication challenges. Few studies have examined family-level factors that impact FCH communication in Black Americans. This study employed a qualitative design to examine the family communication environments of those who communicated more (i.e., disseminators) versus less or no change (i.e., non-disseminators) about FCH, within the last year.</p><p><strong>Methods: </strong>This is a secondary data analysis of a larger study that implemented a community education program on how to calculate cancer risk from family history (i.e., Families SHARE). Black Americans (N = 39) participated in community education workshops (N = 12) and discussed family communication environments. A codebook was developed a priori and revised iteratively using a consensus approach. Dedoose qualitative software supported establishing inter-rater reliability (Cohen's kappa = 0.83) and thematic analysis. Participants received USD 50 for workshop completion.</p><p><strong>Results: </strong>Pre-workshop disseminators (n = 14) and non-disseminators (n = 25) averaged 59 years of age, were 50% female, and earned <USD 20,000 per year. Norms related to age, sex, and privacy shaped family communication environments for both groups. Disseminators were marked by stronger relational quality and frequent contact, whereas non-disseminators indicated poorer relational quality and limited information flow throughout the family.</p><p><strong>Conclusion: </strong>Theory-driven approaches that address the nuanced family communication environments of black Americans may optimize FCH communication of disseminators and non-disseminators.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"27-38"},"PeriodicalIF":1.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12952514/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146054586","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":"Views on a Chatbot for Cancer Family History Collection among Leaders of Hispanic and Pacific Islander Communities in Utah.","authors":"Melissa Guziak, Daniel Chavez-Yenter, Emma Sears, Amanda Gammon, Crystal Y Lumpkins, Whitney F Maxwell, Lynette Phillips, Peter Taber, Guilherme Del Fiol, Kimberly A Kaphingst","doi":"10.1159/000550466","DOIUrl":"10.1159/000550466","url":null,"abstract":"<p><strong>Introduction: </strong>Individuals from historically marginalized communities have less access to genetic testing services. Incomplete family history information in electronic health records contributes to under-identification of those eligible for genetic testing of hereditary cancer genes. Digital health tools can aid in collecting family history information, but there is a lack of information about how to integrate these tools in ways that are effective for different communities. This study investigated experiences with family history collection as well as acceptability and approaches for cultural adaptation of a chatbot for family history collection.</p><p><strong>Methods: </strong>Seven community engagement studios were conducted with community leaders (N = 48) representing historically marginalized communities, specifically Hispanic and Pacific Islander. The studios were conducted by trained facilitators in English (n = 4) or Spanish (n = 3) with 5-8 participants per studio. Transcripts of recorded studios were analyzed using inductive thematic analysis.</p><p><strong>Results: </strong>Two domains, each with underlying themes, were identified: (1) previous family history collection experience and (2) chatbot impressions and feedback. Community leaders saw value in using a chatbot for family history collection and also expressed the importance of addressing accessibility of the tool. They emphasized interpersonal interactions together with the use of digital health tools and the importance of trusting relationships with healthcare professionals regardless of chatbot integration.</p><p><strong>Conclusion: </strong>Community leaders highlighted specific strengths and limitations of the chatbot. The importance of human connection with healthcare professionals to build trusting relationships was emphasized. Successful integration of this tool into historically marginalized communities will require ongoing conversations and investment in communities.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"55-72"},"PeriodicalIF":1.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12872182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145967634","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":"The Path to Screening US Newborns for Severe Combined Immunodeficiency, 1968-2018: A Narrative Review of a Successful Biomedical Research and Public Health Partnership.","authors":"Scott D Grosse, Robert F Vogt, Golriz K Yazdanpanah, Kee Chan, Marcus Gaffney, Anne M Comeau","doi":"10.1159/000551379","DOIUrl":"10.1159/000551379","url":null,"abstract":"<p><strong>Background: </strong>Newborn screening for severe combined immunodeficiency (SCID) represents an important advancement in public health genomics as the first DNA-based primary screening test in newborn screening programs. The story of how this process took place in the USA during the first two decades of the current century can provide useful lessons for the fields of newborn screening and public health genomics.</p><p><strong>Summary: </strong>Newborn screening for SCID was officially recommended at the national level in the USA in 2010 and fully implemented by 2018. It was preceded by the development and evaluation of treatments administered to infants with SCID at varying ages. Evidence of better outcomes with early treatment by hematopoietic stem cell transplantation, published beginning in 1998, led to the exploration of practical screening assays beginning in 2001, followed by pilot screening studies conducted beginning in 2008, and full implementation in US screening programs between 2010 and 2018. Technical, logistical, and funding challenges in implementing the needed genomic technologies in public health programs were met through creative partnerships.</p><p><strong>Key messages: </strong>The development of newborn screening for new rare disorders can require multiple years of painstaking research and implementation science. Support and cooperation among patient advocacy groups, clinical experts, public health researchers, and government agencies are essential for the successful rollout of new newborn screening tests and follow-up protocols.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"83-93"},"PeriodicalIF":1.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13105465/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147366815","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}