{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,14]],"date-time":"2026-06-14T09:05:31Z","timestamp":1781427931631,"version":"3.54.1"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,3,20]],"date-time":"2025-03-20T00:00:00Z","timestamp":1742428800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008091","name":"University of Rochester","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008091","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Annually, over two million individuals in the United States are diagnosed with cancer, with 10\u201320% attributed to hereditary cancer syndromes. Genetic testing for pathogenic variants is a standard component of cancer care guided by tumor pathology and family history. Despite this, access to and completion of cancer genetic testing remains suboptimal. This study aims to understand the rates and factors associated with genetic testing completion among individuals with cancer. Utilizing data from the All of Us Research Program, which includes over one million Americans, we examined the documentation of genetic testing in electronic health records. Participants diagnosed with breast, ovarian, colon, endometrial, or pancreatic cancer were selected using the All of Us Workbench cohort builder tool. Descriptive and univariate analyses were conducted within the integrated Jupyter Notebook. Out of 60,135 individuals with a diagnostic code for the eligible cancers, over 73% reported a family history of cancer. However, only 281 individuals had a diagnosis or procedural code for a cancer genetic test, with 82% completing the test post\u2010cancer diagnosis. While the All of Us data is a robust resource for large\u2010scale research, challenges in data acquisition and interpretation arise due to the reporting structure of genetic findings in most data sources, such as electronic health records. To effectively utilize large\u2010scale data for addressing issues in cancer genetic testing, shared data elements and standardized documentation are essential.<\/jats:p>","DOI":"10.1002\/jgc4.2011","type":"journal-article","created":{"date-parts":[[2025,3,20]],"date-time":"2025-03-20T09:53:54Z","timestamp":1742464434000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Low frequency of structured documentation for cancer genetic testing in a large electronic health record dataset: A brief report using <i>All of Us Research<\/i> data"],"prefix":"10.1002","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1433-5915","authenticated-orcid":false,"given":"Meghan L.","family":"Underhill","sequence":"first","affiliation":[{"name":"School of Nursing University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xintong","family":"Li","sequence":"additional","affiliation":[{"name":"Goregen Institute for Data Science University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaimin","family":"Shah","sequence":"additional","affiliation":[{"name":"Goregen Institute for Data Science University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caitlin","family":"Dreisbach","sequence":"additional","affiliation":[{"name":"School of Nursing University of Rochester  Rochester New York USA"},{"name":"Goregen Institute for Data Science University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,3,20]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1245\/s10434\u2010020\u201009123\u2010z"},{"issue":"7","key":"e_1_2_9_3_1","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1056\/NEJMsr1809937","article-title":"The \u201call of us\u201d research program","volume":"381","author":"All of Us Research Program Investigators","year":"2019","journal-title":"New England Journal of Medicine"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2021.09.009"},{"issue":"4","key":"e_1_2_9_5_1","first-page":"525","article-title":"Assessment of clinical benefit of integrative genomic profiling in advanced solid tumors","volume":"7","author":"Cobain E. F.","year":"2021","journal-title":"JAMA Oncology"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.6004\/jnccn.2023.0051"},{"issue":"9","key":"e_1_2_9_7_1","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1038\/s41436-020-0841-2","article-title":"The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)","volume":"22","author":"Grebe T. A.","year":"2020","journal-title":"Genetics in Medicine"},{"issue":"1","key":"e_1_2_9_8_1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/s13053-023-00247-3","article-title":"Are population level familial risks and germline genetics meeting each other?","volume":"21","author":"Hemminki K.","year":"2023","journal-title":"Hereditary Cancer in Clinical Practice"},{"issue":"4","key":"e_1_2_9_9_1","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1038\/s41436-020-01056-y","article-title":"Real\u2010world integration of genomic data into the electronic health record: The PennChart genomics initiative","volume":"23","author":"Lau\u2010Min K. S.","year":"2021","journal-title":"Genetics in Medicine"},{"issue":"11","key":"e_1_2_9_10_1","doi-asserted-by":"crossref","first-page":"2338","DOI":"10.1016\/j.gim.2022.08.009","article-title":"Impact of integrating genomic data into the electronic health record on genetics care delivery","volume":"24","author":"Lau\u2010Min K. S.","year":"2022","journal-title":"Genetics in Medicine"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1200\/cci.23.00249"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010genom\u2010083118\u2010015253"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1200\/op.22.00794"},{"key":"e_1_2_9_14_1","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1200\/CCI.20.00059","article-title":"Improving cancer data interoperability: The promise of the minimal common oncology data elements (mCODE) initiative","volume":"4","author":"Osterman T. J.","year":"2020","journal-title":"JCO Clinical Cancer Informatics"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2020.6252"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21590"}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jgc4.2011","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,21]],"date-time":"2025-03-21T23:31:58Z","timestamp":1742599918000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jgc4.2011"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,20]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1002\/jgc4.2011"],"URL":"https:\/\/doi.org\/10.1002\/jgc4.2011","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,20]]},"assertion":[{"value":"2024-08-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2011"}}