{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,17]],"date-time":"2026-05-17T02:26:16Z","timestamp":1778984776305,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,3,7]],"date-time":"2019-03-07T00:00:00Z","timestamp":1551916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>JScreen is a national public health initiative based out of Emory University that provides reproductive carrier screening through an online portal and follow\u2010up genetic counseling services. In 2014, JScreen began reporting to patients variants of uncertain significance (VUSs) in the gene that causes Tay\u2010Sachs disease (<jats:italic>HEXA<\/jats:italic>). Genetic counseling was provided to discuss the VUS and patients were offered hexosaminidase A (HEXA) blood enzyme testing to assist with VUS reclassification. To identify patient reactions and factors influencing their follow\u2010up testing decisions after receiving these results, we conducted a retrospective quantitative study by administering online surveys to 62 patients with <jats:italic>HEXA<\/jats:italic> VUSs. Participants who pursued enzyme testing and those who did not both experienced low levels of distress when receiving the VUS results. Perceptions of <jats:italic>HEXA<\/jats:italic> carrier status after genetic counseling, decisional conflict levels, plans to have children in the near future, time available to pursue enzyme testing, and eligibility for research were significant factors influencing decision\u2010making to pursue or not pursue enzyme testing. Genetic counseling played an important role in helping patients understand the VUS and follow\u2010up testing options. When discussing VUSs with patients, it would be beneficial for genetic counselors to focus on the patient's perception of the VUS, anxiety related to the uncertainty of their results, and follow\u2010up options, when available.<\/jats:p>","DOI":"10.1002\/jgc4.1108","type":"journal-article","created":{"date-parts":[[2019,3,7]],"date-time":"2019-03-07T12:08:30Z","timestamp":1551960510000},"page":"738-749","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Patients' reactions and follow\u2010up testing decisions related to Tay\u2010Sachs (<i>HEXA<\/i>) variants of uncertain significance results"],"prefix":"10.1002","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5491-6434","authenticated-orcid":false,"given":"Tiffany","family":"Yip","sequence":"first","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine Atlanta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen A.","family":"Grinzaid","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine Atlanta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecelia","family":"Bellcross","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine Atlanta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rene\u00e9 H.","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Public Health Emory University Atlanta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia Z.","family":"Page","sequence":"additional","affiliation":[{"name":"Department of Clinical and Diagnostic Sciences University of Alabama at Birmingham School of Health Professions Birmingham Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie W.","family":"Hardy","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine Atlanta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,3,7]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.e45"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.113"},{"key":"e_1_2_11_4_1","volume-title":"Tay Sachs Disease carrier screening in the Ashkenazi Jewish population","author":"Burton H.","year":"2009"},{"issue":"6","key":"e_1_2_11_5_1","first-page":"537","article-title":"Tay\u2010Sachs screening: Motives for participating and knowledge of genetics and probability","volume":"28","author":"Childs B.","year":"1976","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12097"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000000666"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.9.1466"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-014-9800-x"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35981"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.37"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006842-197905000-00004"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014401"},{"key":"e_1_2_11_14_1","volume-title":"GeneReviews\u00ae","author":"Kaback M. M.","year":"1999"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.1.24"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31815f6eac"},{"key":"e_1_2_11_17_1","unstructured":"National Tay\u2010Sachs & Allied Diseases Association. (2009).NTSAD Position Statement: Tay\u2010Sachs carrier screening. Retrieved fromhttps:\/\/www.ntsad.org\/index.php\/resources\/library\/prevent\/83-ntsad-position-statement-ts-carrier-screening"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00008480-199612000-00014"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/0272989X9501500105"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/pon.1467"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199007053230102"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.10.829"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2004.8.235"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/pon.1311"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4624"}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjgc4.1108","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jgc4.1108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T03:29:32Z","timestamp":1694316572000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jgc4.1108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,7]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1002\/jgc4.1108"],"URL":"https:\/\/doi.org\/10.1002\/jgc4.1108","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,7]]},"assertion":[{"value":"2018-08-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-02-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}