{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T16:07:04Z","timestamp":1783958824663,"version":"3.55.0"},"reference-count":13,"publisher":"American Medical Association (AMA)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Netw Open"],"abstract":"\n Importance<\/jats:title>\n Genomic screening for Centers for Disease Control and Prevention Tier 1 conditions, ie, hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome, and familial hypercholesterolemia, enables early detection of these rare, but highly penetrant disorders and supports timely, evidence-based interventions. However, states with large rural and socially disadvantaged populations, such as South Carolina, face substantial structural and access-related barriers that limit the reach of population-wide genomic screening (PWGS).<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n To examine whether combining implementation science and informatics infrastructure supports PWGS and to assess screening coverage and positivity by rurality and social disadvantage.<\/jats:p>\n <\/jats:sec>\n \n Design, Setting, and Participants<\/jats:title>\n This cross-sectional study used data from In Our DNA SC, a statewide PWGS program launched on November 8, 2021, in South Carolina. Recruitment and sample collection occurred via the health system, community-based collection events, and at-home kits. Analyses included adults aged 18 or older who completed screening as of July 23, 2025.<\/jats:p>\n <\/jats:sec>\n \n Exposure<\/jats:title>\n Genomic screening for Centers for Disease Control and Prevention Tier 1 conditions.<\/jats:p>\n <\/jats:sec>\n \n Main Outcomes and Measures<\/jats:title>\n County-level screening coverage rates (per 100\u202f000 population) and positivity prevalence (per 100\u202f000 valid results) were stratified using rural-urban continuum (RUC) codes (1 = most urban to 9 = most rural) and Social Vulnerability Index (SVI) quartiles (from 1 = least disadvantaged to 4 = most disadvantaged).<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n Of a total of 82 420 adults enrolled in the PWGS program, 50 897 completed screening (71.6% aged &amp;lt;65 years and 28.4% aged \u226565 years, 72.6% female). The program enrolled and screened participants from all 46 South Carolina counties. Screening coverage rates varied by RUC code and SVI. Screening rates per 100 000 population exceeded 1000 in RUC codes 1 through 3 and were significantly higher than RUC code 6 (791.4; 95% CI, 757.1-827.2), RUC code 8 (861.4; 95% CI, 801.1-926.2), and RUC code 9 (839.6; 95% CI, 683.6-1030.8). Screening coverage by overall SVI score was significantly higher in quartile 1 (1422.1; 95% CI, 1406.3-1438.1) and quartile 2 (1188.4; 95% CI, 1167.3-1209.9) compared with quartile 3 (888.4; 95% CI, 866.5-910.9) and quartile 4 (839.6; 95% CI, 952.3-1025.4). Positivity prevalence was generally similar across RUC codes, except for HBOC, which was significantly higher per 100 000 in RUC code 2 (801.3; 95% CI, 715.3-897.4) compared with RUC code 1 (268.5; 95% CI, 123.1-584.5). When examined by overall SVI quartiles, positivity prevalence for HBOC, Lynch syndrome, and familial hypercholesterolemia remained consistent, with no statistically significant differences across levels of disadvantage.<\/jats:p>\n <\/jats:sec>\n \n Conclusions and Relevance<\/jats:title>\n This cross-sectional study of a statewide PWGS program supported by an implementation framework and informatics platform suggests broad geographic and social reach. Evaluation of clinical and behavioral outcomes is the critical next step for determining program effectiveness and performance in community and clinical settings. Taken together, these findings suggest that pairing implementation science with robust informatics infrastructure may support PWGS delivery in diverse communities.<\/jats:p>\n <\/jats:sec>","DOI":"10.1001\/jamanetworkopen.2026.22743","type":"journal-article","created":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T15:30:18Z","timestamp":1783956618000},"page":"e2622743","source":"Crossref","is-referenced-by-count":0,"title":["Geographic and Social Equity in Population-Wide Genomic Screening"],"prefix":"10.1001","volume":"9","author":[{"given":"Kalyani","family":"Sonawane","sequence":"first","affiliation":[{"name":"Department of Public Health Sciences, College of Medicine, Medical University of South Carolina, Charleston"},{"name":"Hollings Cancer Center, Medical University of South Carolina, Charleston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel P.","family":"Judge","sequence":"additional","affiliation":[{"name":"Department of Medicine, College of Medicine, Medical University of South Carolina, Charleston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ella","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Public Health Sciences, College of Medicine, Medical University of South Carolina, Charleston"},{"name":"Hollings Cancer Center, Medical University of South Carolina, Charleston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha","family":"Norman","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics, Medical University of South Carolina, Charleston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caitlin G.","family":"Allen","sequence":"additional","affiliation":[{"name":"Department of Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","published-online":{"date-parts":[[2026,7,13]]},"reference":[{"issue":"3","key":"zoi260633r7","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1016\/j.ajhg.2024.01.004","article-title":"Using implementation science to evaluate a population-wide genomic screening program: findings from the first 20,000 In Our DNA SC participants.","volume":"111","author":"Allen","year":"2024","journal-title":"Am J Hum Genet"},{"issue":"1","key":"zoi260633r8","doi-asserted-by":"publisher","DOI":"10.1080\/28322134.2024.2394193","article-title":"Developing catchment area data dashboards for cancer centers: a stakeholder-engaged approach.","volume":"2","author":"Sonawane","year":"2024","journal-title":"Prev Oncol Epidemiol"},{"issue":"9","key":"zoi260633r9","doi-asserted-by":"publisher","first-page":"1322","DOI":"10.2105\/AJPH.89.9.1322","article-title":"Evaluating the public health impact of health promotion interventions: the RE-AIM framework.","volume":"89","author":"Glasgow","year":"1999","journal-title":"Am J Public Health"},{"key":"zoi260633r12","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1038\/s44360-025-00020-x","article-title":"Feasibility and outcomes of the DNA screen nationwide adult genomic screening pilot.","volume":"1","author":"Lacaze","year":"2026","journal-title":"Nature Health"},{"key":"zoi260633r1","unstructured":"National Academies of Sciences, Engineering, and Medicine; Health and Medicine Division; Board on Health Sciences Policy; Roundtable on Genomics and Precision Health. Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop. The National Academies Press; 2018. Accessed February 1, 2026. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK500393\/"},{"key":"zoi260633r2","unstructured":"South Carolina population estimates, projections, and demographic trends. South Carolina Revenue and Fiscal Affairs Office. 2025. Accessed January 15, 2026. https:\/\/rfa.sc.gov\/sites\/default\/files\/2025-03\/SC%20Population%20Estimates%20and%20Trends%20-%20SC%20BHSA%202-1-2025.pdf"},{"key":"zoi260633r3","unstructured":"PLACES: local data for better health. Centers for Disease Control and Prevention. 2025. Accessed January 15, 2026. https:\/\/www.cdc.gov\/places\/index.html"},{"key":"zoi260633r4","unstructured":"Genetics Policy Hub: South Carolina. National Coordinating Center for the Regional Genetics Networks. 2025. Accessed February 1, 2026. https:\/\/geneticspolicy.nccrcg.org\/medicaid-policy\/south-carolina\/"},{"key":"zoi260633r5","unstructured":"Genetic\/familial high-risk assessment: breast and ovarian. National Comprehensive Cancer Network. 2021. Accessed January 15, 2026. https:\/\/www.nccn.org\/guidelines\/guidelines-detail?category=1&id=1435"},{"key":"zoi260633r6","unstructured":"Genetic testing policy, codes and fee updates. South Carolina Department of Health and Human Services Healthy Connections Medicaid. 2025. Accessed February 1, 2026. https:\/\/www.scdhhs.gov\/communications\/genetic-testing-policy-codes-and-fee-updates"},{"key":"zoi260633r10","unstructured":"South Carolina Cancer Surveillance for Population Health Research and Outreach Tool. Medical University of South Carolina. Accessed January 15, 2026. https:\/\/hollingscancercenter.musc.edu\/outreach\/sc-spot-south-carolina-cancer-data-statistics"},{"key":"zoi260633r11","unstructured":"America\u2019s health rankings. United Health Foundation. Accessed January 15, 2026. https:\/\/www.americashealthrankings.org\/explore\/states\/ALL?nav=1"},{"key":"zoi260633r13","unstructured":"Founder effect. National Human Genome Research Institute. 2025. Accessed February 1, 2026. https:\/\/www.genome.gov\/genetics-glossary\/Founder-Effect"}],"container-title":["JAMA Network Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamanetworkopen\/articlepdf\/2851596\/sonawane_2026_oi_260633_1783366221.90699.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T15:30:20Z","timestamp":1783956620000},"score":1,"resource":{"primary":{"URL":"https:\/\/jamanetwork.com\/journals\/jamanetworkopen\/fullarticle\/2851596"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,13]]},"references-count":13,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7,1]]}},"URL":"https:\/\/doi.org\/10.1001\/jamanetworkopen.2026.22743","relation":{},"ISSN":["2574-3805"],"issn-type":[{"value":"2574-3805","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,13]]}}}