{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T02:22:48Z","timestamp":1760235768184,"version":"build-2065373602"},"reference-count":16,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T00:00:00Z","timestamp":1632787200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100014470","name":"Netherlands Heart Institute","doi-asserted-by":"publisher","award":["CVON2017-4"],"award-info":[{"award-number":["CVON2017-4"]}],"id":[{"id":"10.13039\/501100014470","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Pulmonary arterial hypertension (PAH) has an identifiable genetic cause in 5% of all PAH cases. Due to health benefits conferred by the early detection of PAH and the recent identification of additional PAH-associated genes, we decided to offer (extended) genetic testing to all incident and prevalent idiopathic PAH (iPAH) and pulmonary veno-occlusive disease (PVOD) patients in our clinic. Here, we report the lessons learned from (re-)contacting iPAH\/PVOD patients concerning the uptake and analysis of identified PAH-associated genes and patient perspectives of the approach. Methods: Between January 2018 and April 2020, all iPAH\/PVOD patients who were not previously genetically tested (contact group) and those who tested negative on prior analysis of BMPR2 and SMAD9 variants (re-contact group) were (re-)contacted for (additional) genetic testing. Results: With our approach, 58% of patients (84 out of 165) opted for genetic counselling, and a pathogenic variant was found in 12% of cases (n = 10) (re-contact group, 11%, and contact group, 13%). Eighty-six percent of participants of the survey study appreciated being (re-)contacted for genetic testing. Mild psychosocial impacts were observed. Conclusions: Our report shows the importance of (re-)contact and interest of patients (as indicated by the uptake, mild psychosocial impact and appreciation) in PAH.<\/jats:p>","DOI":"10.3390\/genes12101540","type":"journal-article","created":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T21:38:09Z","timestamp":1632865089000},"page":"1540","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Uptake and Patient Perspectives on Additional Testing for Novel Disease-Associated Genes: Lessons from a PAH Cohort"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3493-3573","authenticated-orcid":false,"given":"Samara M. A.","family":"Jansen","sequence":"first","affiliation":[{"name":"Department of Pulmonary Medicine, Amsterdam University Medical Center (UMC) (Vrije Universiteit), 1081 HV Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4248-320X","authenticated-orcid":false,"given":"Lieke M.","family":"van de Heuvel","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Amsterdam University Medical Center (UMC) (Vrije Universiteit), 1081 HV Amsterdam, The Netherlands"},{"name":"University Medical Centre Utrecht, Department of Genetics, Utrecht University, 3584 CX Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arjan C.","family":"Houweling","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Amsterdam University Medical Center (UMC) (Vrije Universiteit), 1081 HV Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3854-6749","authenticated-orcid":false,"given":"J. Peter","family":"van Tintelen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Amsterdam University Medical Center (UMC) (Vrije Universiteit), 1081 HV Amsterdam, The Netherlands"},{"name":"University Medical Centre Utrecht, Department of Genetics, Utrecht University, 3584 CX Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frances S.","family":"de Man","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Amsterdam University Medical Center (UMC) (Vrije Universiteit), 1081 HV Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anton","family":"Vonk Noordegraaf","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Amsterdam University Medical Center (UMC) (Vrije Universiteit), 1081 HV Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5371-0346","authenticated-orcid":false,"given":"Harm","family":"Jan Bogaard","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Amsterdam University Medical Center (UMC) (Vrije Universiteit), 1081 HV Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,9,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1183\/13993003.01032-2015","article-title":"2015 ESC\/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT)","volume":"46","author":"Humbert","year":"2015","journal-title":"Eur. 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Genet."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/10\/1540\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T07:06:41Z","timestamp":1760166401000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/10\/1540"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,28]]},"references-count":16,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2021,10]]}},"alternative-id":["genes12101540"],"URL":"https:\/\/doi.org\/10.3390\/genes12101540","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2021,9,28]]}}}