{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T20:20:33Z","timestamp":1787948433367,"version":"build-2784847793"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:00:00Z","timestamp":1781654400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:00:00Z","timestamp":1781654400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"Georgia Association of Genetic Counselors"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"DOI":"10.1007\/s12687-026-00910-x","type":"journal-article","created":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T07:50:35Z","timestamp":1781682635000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Factors contributing to the underdiagnosis of hereditary transthyretin amyloidosis (hATTR) in Black patients"],"prefix":"10.1007","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6464-1785","authenticated-orcid":false,"given":"Hagerty","family":"KJ","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosen","family":"AR","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heyward","family":"A","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"N","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffreys","family":"B","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brown","family":"EE","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Demo","family":"EM","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guan","family":"Y","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ogunniyi","family":"MO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morris","family":"AA","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhatt","family":"KN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,17]]},"reference":[{"key":"910_CR2","doi-asserted-by":"publisher","unstructured":"Akinboboye O, Shah K, Warner AL, Damy et al (2020) DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis. Amyloid. https:\/\/doi.org\/10.1080\/13506129.2020.1764928","DOI":"10.1080\/13506129.2020.1764928"},{"key":"910_CR3","doi-asserted-by":"publisher","first-page":"749","DOI":"10.2147\/TCRM.S185677","volume":"16","author":"MD Benson","year":"2020","unstructured":"Benson MD, Dasgupta NR, Rao R (2020) Diagnosis and screening of patients with hereditary transthyretin amyloidosis (hATTR): current strategies and guidelines. Ther Clin Risk Manag 16:749\u2013758. https:\/\/doi.org\/10.2147\/TCRM.S185677","journal-title":"Ther Clin Risk Manag"},{"issue":"1","key":"910_CR4","first-page":"10","volume":"8","author":"NA Brown","year":"2015","unstructured":"Brown NA, Smith KC, Thornton RL (2015) Gathering perspectives on extended family influence on African American children\u2019s physical activity. J Health Dispar Res Pract 8(1):10\u201324","journal-title":"J Health Dispar Res Pract"},{"key":"910_CR5","doi-asserted-by":"publisher","DOI":"10.1186\/s12913-023-09304-y","author":"G Campbell-Salome","year":"2023","unstructured":"Campbell-Salome G, Jones LK, Walters et al (2023) Optimizing communication strategies and designing a comprehensive program to facilitate cascade testing for familial hypercholesterolemia. BMC Health Serv Res. https:\/\/doi.org\/10.1186\/s12913-023-09304-y","journal-title":"BMC Health Serv Res"},{"key":"910_CR6","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1002\/pros.21314","volume":"71","author":"G Chornokur","year":"2011","unstructured":"Chornokur G, Dalton K, Borysova ME, Kumar NB (2011) Disparities at presentation, diagnosis, treatment, and survival in African American men, affected by prostate cancer. Prostate 71:985\u2013997. https:\/\/doi.org\/10.1002\/pros.21314","journal-title":"Prostate"},{"key":"910_CR7","doi-asserted-by":"publisher","DOI":"10.1185\/03007995.2012.754348","author":"T Coelho","year":"2016","unstructured":"Coelho T, Maurer MS (2016) THAOS - the transthyretin amyloidosis outcomes survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. Curr Med Res Opin. https:\/\/doi.org\/10.1185\/03007995.2012.754348","journal-title":"Curr Med Res Opin"},{"issue":"5","key":"910_CR13","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1161\/CIRCGEN.119.002803","volume":"13","author":"Van den Heuvel","year":"2020","unstructured":"den Heuvel Van, Lieke M, van Teijlingen MO et al (2020) Long-Term Follow-up Study on the Uptake of Genetic Counseling and Predictive DNA Testing in Inherited Cardiac Conditions. Circ Genom Precis Med 13(5):524\u2013530","journal-title":"Circ Genom Precis Med"},{"key":"910_CR8","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacadv.2025.102034","author":"P Duran-Luciano","year":"2025","unstructured":"Duran-Luciano P, Pandey A, Swett K (2025) Prevalence and phenotype of transthyretin Val122Ile variant in the Hispanic community health study\/study of Latinos. JACC: Advances. https:\/\/doi.org\/10.1016\/j.jacadv.2025.102034","journal-title":"JACC: Advances"},{"issue":"3","key":"910_CR9","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1038\/ejhg.2015.174","volume":"10","author":"LE Forrest","year":"2008","unstructured":"Forrest LE, Burke J, Bacic S, Amor DJ (2008) Increased genetic counseling support improves communication of genetic information in families. Genet Med 10(3):167\u2013172. https:\/\/doi.org\/10.1038\/ejhg.2015.174","journal-title":"Genet Med"},{"issue":"3","key":"910_CR10","first-page":"267","volume":"22","author":"BA Glenn","year":"2012","unstructured":"Glenn BA, Chawla N, Bastani R (2012) Barriers to genetic testing for breast cancer risk among ethnic minority women: an exploratory study. Ethn Dis 22(3):267\u2013273","journal-title":"Ethn Dis"},{"issue":"1","key":"910_CR11","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1186\/s13023-020-01633-z","volume":"15","author":"M Grandis","year":"2020","unstructured":"Grandis M, Obici L, Luigetti M et al (2020) Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus. Orphanet J Rare Dis 15(1):348. https:\/\/doi.org\/10.1186\/s13023-020-01633-z","journal-title":"Orphanet J Rare Dis"},{"key":"910_CR12","volume-title":"Qualitative research methods","author":"M Hennink","year":"2020","unstructured":"Hennink M, Hutter I, Bailey A (2020) Qualitative research methods, 2nd Ed. SAGE Publications","edition":"2nd Ed"},{"key":"910_CR1","doi-asserted-by":"crossref","unstructured":"Kane C (2000). African American Family Dynamics as Perceived by Family Members. Journal of Black Studies 30(5). Sage Publications, Inc.","DOI":"10.1177\/002193470003000504"},{"key":"910_CR14","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1007\/978-1-0716-0771-8_6","volume":"2176","author":"M Mahfouz","year":"2020","unstructured":"Mahfouz M, Maruyama R, Yokota T (2020) Inotersen for the Treatment of Hereditary Transthyretin Amyloidosis. Methods Mol Biol 2176:87\u201398. https:\/\/doi.org\/10.1007\/978-1-0716-0771-8_6","journal-title":"Methods Mol Biol"},{"issue":"11","key":"910_CR15","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1056\/NEJMoa1805689","volume":"379","author":"MS Maurer","year":"2018","unstructured":"Maurer MS, Schwartz JH, Gundapaneni Bea et al (2018) Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med 379(11):1007\u20131016. https:\/\/doi.org\/10.1056\/NEJMoa1805689","journal-title":"N Engl J Med"},{"issue":"3","key":"910_CR16","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1007\/s13187-019-01571-w","volume":"35","author":"MK McCall","year":"2020","unstructured":"McCall MK, Connolly M, Nugent Bea et al (2020) Symptom experience, management, and outcomes according to race and social determinants including genomics, epigenomics, and metabolomics (SEMOARS + GEM): an explanatory model for breast cancer treatment disparity. J Cancer Educ 35(3):428\u2013440. https:\/\/doi.org\/10.1007\/s13187-019-01571-w","journal-title":"J Cancer Educ"},{"key":"910_CR17","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.04.006","author":"DT Miller","year":"2022","unstructured":"Miller DT, Lee K, Abul-Husn Nea et al (2022) ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. https:\/\/doi.org\/10.1016\/j.gim.2022.04.006","journal-title":"Genet Med"},{"key":"910_CR18","doi-asserted-by":"publisher","DOI":"10.1007\/s10741-021-10080-2","author":"N Nativi-Nicolau","year":"1978","unstructured":"Nativi-Nicolau N, Maurer M (1978) Screening for ATTR amyloidosis in the clinic: overlapping disorders, misdiagnosis, and multiorgan awareness. Heart Fail Rev. https:\/\/doi.org\/10.1007\/s10741-021-10080-2","journal-title":"Heart Fail Rev"},{"key":"910_CR19","doi-asserted-by":"publisher","DOI":"10.1159\/000529852","author":"KM Romagnoli","year":"2023","unstructured":"Romagnoli KM, Kulchak Rahm A, Jonas MC et al (2023) Human-centered design study to inform traceback cascade genetic testing programs at three integrated health systems. Public Health Genom. https:\/\/doi.org\/10.1159\/000529852","journal-title":"Public Health Genom"},{"issue":"1","key":"910_CR20","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1007\/s40119-021-00219-5","volume":"10","author":"MH Rozenbaum","year":"2021","unstructured":"Rozenbaum MH, Large S, Bhambri Rea et al (2021) Impact of delayed diagnosis and misdiagnosis for patients with transthyretin amyloid cardiomyopathy (ATTR-CM): a targeted literature review. Cardiol Ther 10(1):141\u2013159. https:\/\/doi.org\/10.1007\/s40119-021-00219-5","journal-title":"Cardiol Ther"},{"issue":"22","key":"910_CR21","doi-asserted-by":"publisher","first-page":"2872","DOI":"10.1016\/j.jacc.2019.04.003","volume":"73","author":"FL Ruberg","year":"2012","unstructured":"Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS (2012) Transthyretin amyloid cardiomyopathy. J Am Coll Cardiol 73(22):2872\u20132891. https:\/\/doi.org\/10.1016\/j.jacc.2019.04.003","journal-title":"J Am Coll Cardiol"},{"issue":"2","key":"910_CR22","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1016\/j.ahj.2012.04.015","volume":"164","author":"FL Ruberg","year":"2012","unstructured":"Ruberg FL, Maurer MS, Judge Dea et al (2012) Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the transthyretin amyloidosis cardiac study (TRACS). Am Heart J 164(2):222\u2013228. https:\/\/doi.org\/10.1016\/j.ahj.2012.04.015","journal-title":"Am Heart J"},{"issue":"9","key":"910_CR23","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1089\/gtmb.2013.1548","volume":"17","author":"K Saulsberry","year":"2013","unstructured":"Saulsberry K, Terry SF (2013) The need to build trust: a perspective on disparities in genetic testing. Genet Test Mol Biomarkers 17(9):647\u2013648","journal-title":"Genet Test Mol Biomarkers"},{"issue":"11","key":"910_CR24","doi-asserted-by":"publisher","first-page":"1576","DOI":"10.1177\/0193945918817039","volume":"41","author":"LL Shah","year":"2019","unstructured":"Shah LL, Daack-Hirsch S, Ersig Aea et al (2019) Family relationships associated with communication and testing for inherited cardiac conditions. West J Nurs Res 41(11):1576\u20131601. https:\/\/doi.org\/10.1177\/0193945918817039","journal-title":"West J Nurs Res"},{"issue":"1","key":"910_CR25","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/j.jacc.2020.04.074","volume":"76","author":"T Sher","year":"2020","unstructured":"Sher T, Velarde GP, Gertz MA (2020) V122I transthyretin cardiomyopathy. J Am Coll Cardiol 76(1):93\u201395. https:\/\/doi.org\/10.1016\/j.jacc.2020.04.074","journal-title":"J Am Coll Cardiol"},{"key":"910_CR26","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00725-5","author":"S Srinivasan","year":"2020","unstructured":"Srinivasan S, Won NY, Dotson WD (2020) Barriers and facilitators for cascade testing in genetic conditions: a systematic review. Eur J Hum Genet. https:\/\/doi.org\/10.1038\/s41431-020-00725-5","journal-title":"Eur J Hum Genet"},{"key":"910_CR30","unstructured":"US Census 2020 Table 1: Educational Attainment of the Population 18 Years and Over, by Age, Sex, Race, and Hispanic Origin - Black Alone. https:\/\/www.census.gov\/data\/tables\/2020\/demo\/educational-attainment\/cps-detailed-tables.html. Accessed 25 November 2025."},{"issue":"1","key":"910_CR27","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1186\/s13023-020-01623-1","volume":"16","author":"M Vera-Llonch","year":"2021","unstructured":"Vera-Llonch M, Reddy SR, Chang E, Tarbox MH, Pollock M (2021) The patient journey toward a diagnosis of hereditary transthyretin (ATTRv) amyloidosis. Orphanet J Rare Dis 16(1):25\u2013020. https:\/\/doi.org\/10.1186\/s13023-020-01623-1","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"910_CR28","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1038\/s41391-021-00469-3","volume":"25","author":"N Weise","year":"2021","unstructured":"Weise N, Shaya J, Javier-Desloges J, Cheng HH, Madlensky L, McKay RR (2021) Disparities in germline testing among racial minorities with prostate cancer. Prostate Cancer Prostatic Dis 25(3):403\u201310. https:\/\/doi.org\/10.1038\/s41391-021-00469-3","journal-title":"Prostate Cancer Prostatic Dis"},{"issue":"2","key":"910_CR29","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1080\/13506120500107162","volume":"12","author":"T Yamashita","year":"2005","unstructured":"Yamashita T, Asl KH, Yazaki M, Benson MD (2005) A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population. Amyloid 12(2):127\u2013130. https:\/\/doi.org\/10.1080\/13506120500107162","journal-title":"Amyloid"}],"container-title":["Journal of Community Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-026-00910-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12687-026-00910-x","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-026-00910-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T20:02:55Z","timestamp":1787947375000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12687-026-00910-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,17]]},"references-count":30,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,8]]}},"alternative-id":["910"],"URL":"https:\/\/doi.org\/10.1007\/s12687-026-00910-x","relation":{},"ISSN":["1868-6001"],"issn-type":[{"value":"1868-6001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,17]]},"assertion":[{"value":"25 November 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 June 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 June 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","label":"Conflict of interest","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"77"}}