{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T01:25:52Z","timestamp":1773278752354,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,6,21]],"date-time":"2021-06-21T00:00:00Z","timestamp":1624233600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2021,6,21]],"date-time":"2021-06-21T00:00:00Z","timestamp":1624233600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Identifying hereditary syndromes among patients with renal cell carcinoma (RCC) is essential for surveillance of affected individuals and their at\u2010risk family members and for treatment optimization. We conducted a chart review to determine the percentage of patients with RCC who were seen at the University of Miami Health System (UHealth), and met the American College of Medical Genetics (ACMG) and the National Society of Genetic Counselors (NSGC) genetic referral criteria at the University of Miami. Subsequently, we determined the percentage of those who went on to receive genetic evaluation. Patients selected by International Classification of Diseases (ICD) 9\/10 codes corresponding to kidney cancer who were at least 18\u2009years of age at the time of diagnosis were included in the study. We included a total of 1443 patients in the final analysis, and after exclusion of charts with incorrect ICD codes, insufficient clinical data, unknown pathology, and patients who were not seen. We used chi\u2010square analysis, ANOVA, and\n                    <jats:italic>t<\/jats:italic>\n                    \u2010test. Of 1443 charts reviewed, 65.7% were male and 34.3% were female. 47.7% self\u2010identified as White, 39.2% as Hispanic, 9.1% as Black, and 4.0% as \u201cother.\u201d The mean age of RCC diagnosis was 60.0\u2009\u00b1\u200912.4\u2009years old. In total, 47.0% of patients met ACMG\/NSGC referral criteria for genetic evaluation. Of those, only 4.2% had documented genetic assessment. This study showed a low adherence to ACMG\/NSGC genetic referral guidelines at our institution and a need for increasing patients' and practitioners' awareness about the significance of genetic assessment for RCC patients and their family members.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62402","type":"journal-article","created":{"date-parts":[[2021,6,21]],"date-time":"2021-06-21T07:57:45Z","timestamp":1624262265000},"page":"3012-3018","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Application of the\n                    <scp>ACMG<\/scp>\n                    \/\n                    <scp>NSGC<\/scp>\n                    genetic referral guidelines for hereditary renal cell carcinoma at the University of Miami, from 2014 to 2017"],"prefix":"10.1002","volume":"185","author":[{"given":"Jessica D.","family":"Leuchter","sequence":"first","affiliation":[{"name":"Department of Human Genetics University of Miami, Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priyen M.","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Miami, Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kayla M.","family":"Fourzali","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Miami, Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Talia R.","family":"Donenberg","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Miami, Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel","family":"Silva\u2010Smith","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Miami, Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolette C.","family":"Vassallo","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Miami, Miller School of Medicine  Miami Florida USA"},{"name":"Department of Anesthesiology University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan H.","family":"Blanton","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Miami, Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dipen J.","family":"Parekh","sequence":"additional","affiliation":[{"name":"Department of Urology University of Miami, Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5484-5186","authenticated-orcid":false,"given":"Irman","family":"Forghani","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Miami, Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clgc.2017.07.027"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0586-y"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0163-z"},{"issue":"3","key":"e_1_2_9_5_1","first-page":"B5461","article-title":"von Hippel\u2010Lindau disease: Diagnosis and factors influencing disease outcome","volume":"65","author":"Binderup M. 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