Key result
Re-contacting idiopathic PAH or PVOD patients for additional genetic testing drives ~58% counseling uptake.
Why the study?
Early detection of PAH through genetic testing is beneficial, and recent identification of additional PAH-associated genes motivated offering extended genetic testing to iPAH and PVOD patients.
What is the uptake, diagnostic yield, and patient perspective of offering extended genetic testing to patients with iPAH and PVOD?
Observational (n=165)
No
What is the uptake, diagnostic yield, and patient perspective of offering extended genetic testing to patients with iPAH and PVOD?
Offering extended genetic testing to iPAH and PVOD patients has a good uptake, provides additional diagnostic yield, and is well-received by patients with only mild psychosocial impact.
May inform genetic testing strategies in iPAH/PVOD; leaves open effects on detection and outcomes.
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.
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Jansen et al. (2021) conducted an observational in Idiopathic pulmonary arterial hypertension (iPAH) and pulmonary veno-occlusive disease (PVOD) (n=165). (Re-)contacting for (additional) genetic testing was evaluated on Uptake of genetic counselling. (Re-)contacting patients with idiopathic PAH or PVOD for additional genetic testing resulted in a 58% uptake of genetic counselling and the identification of pathogenic variants in 12% of cases.
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