{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:33:57Z","timestamp":1772120037080,"version":"3.50.1"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2025,1,11]],"date-time":"2025-01-11T00:00:00Z","timestamp":1736553600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,1,11]],"date-time":"2025-01-11T00:00:00Z","timestamp":1736553600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Alma Mater Studiorum - Universit\u00e0 di Bologna"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues. This is a mixed-method study, analyzing quantitatively and qualitatively the activities of seven medical genetics services in Emilia-Romagna region. Quantitative analysis considered the number of consultations and the composition of the staff in the year 2021. Qualitative analysis examined a focus group of directors of the services through reflexive thematic analysis. A total of 14,925 counseling sessions have been delivered by the medical genetics services, staffed with 22.4 full-time equivalent clinical geneticists. A physician performed an average of 14.5 consultations per week and approximately 1166\u00a0h of patient care per year. The clinical geneticists\/inhabitants ratio was 0.54 per 100,000 inhabitants, and it is estimated that one every 278 inhabitants, on average, underwent a genetic counseling session in 2021. Qualitative analysis highlighted issues concerning patients\u2019 access to service, general organization and staff composition. In order to meet the growing demand for genetic counseling services, expansion of the workforce and adjustment of current practice models are required to increase the access to genetic services and the application of test results to clinical management.<\/jats:p>","DOI":"10.1007\/s12687-024-00750-7","type":"journal-article","created":{"date-parts":[[2025,1,11]],"date-time":"2025-01-11T05:37:30Z","timestamp":1736573850000},"page":"139-150","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study"],"prefix":"10.1007","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3763-9372","authenticated-orcid":false,"given":"Lea","family":"Godino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7520-3721","authenticated-orcid":false,"given":"Enrico","family":"Ambrosini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7711-2156","authenticated-orcid":false,"given":"Valeria","family":"Barili","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3875-6869","authenticated-orcid":false,"given":"Claudio","family":"Graziano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7684-3982","authenticated-orcid":false,"given":"Livia","family":"Garavelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8947-5990","authenticated-orcid":false,"given":"Olga","family":"Calabrese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6133-9831","authenticated-orcid":false,"given":"Marcella","family":"Neri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3658-1209","authenticated-orcid":false,"given":"Luca","family":"Sangiorgi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedetta","family":"Bertonazzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6909-2412","authenticated-orcid":false,"given":"Giovanni","family":"Innella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6792-3921","authenticated-orcid":false,"given":"Daniela","family":"Turchetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3268-6786","authenticated-orcid":false,"given":"Antonio","family":"Percesepe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,1,11]]},"reference":[{"key":"750_CR1","doi-asserted-by":"publisher","first-page":"1115","DOI":"10.1136\/bmj.322.7294.1115","volume":"322","author":"RS Barbour","year":"2001","unstructured":"Barbour RS (2001) Checklists for improving rigour in qualitative research: a case of the tail wagging the dog? 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Ethical institutional review and approval were waived for this study, because no patients or sensible data were involved.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from all participants included in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}