{
  "abstract": "Introduction Pulmonary hypertension (PH) is a progressive and life-threatening disease affecting approximately 1% of the population. 1 Genetic mutations have been identified in several group 1 pulmonary arterial hypertension (PAH) subtypes such as idiopathic PAH (IPAH), familial or heritable PAH, congenital heart disease, pulmonary veno-occlusive disease, pulmonary capillary haemangiomatosis, and drugs or toxin associated PAH.1 The 2022 ESC Guidelines recommend genetic testing for all adult patients with these subtypes, however, routine testing has not yet been consistently adopted nationally.Objectives To increase the proportion of IPAH patients offered and receiving genetic testing, improve documentation of results and establish referral pathways to clinical genetics services.Methods A multicycle quality improvement project was conducted using the Plan-Do-Study-Act (PDSA) framework over 18 months. A baseline audit in April 2024 reviewed electronic medical records of living patients aged ≤ 65 years with IPAH under active follow-up at our centre or outreach clinics. Interventions included: (1) presenting baseline findings to the multidisciplinary team to identify barriers to testing, (2) development of a standard operating procedure for regional genetic testing pathways, (3) implementation of electronic reminders and improved documentation of results (4) establishment of referral pathways for gene-positive patients to clinical genetics services. Re-audits were conducted at 11 and 18 months.Results Sixty-seven IPAH patients were included. At baseline, 11% (n=7) had documented genetic testing, while 37% (n=25) had undergone testing through clinical trials with unavailable results. Following the second cycle, a further 31% of patients were tested (total 42%), with genetic variants identified in 16% (n=11).By the third cycle, 55% completed genetic testing: 30% (n=20) were gene-negative, 19% (n=13) gene-positive and 6% (n=4) with pending results. Of the remaining patients, 5% declined testing, 22% had unavailable results from previous clinical trials and 18% had not been offered genetic testing. All gene-positive patients were reclassified from IPAH to heritable PAH (HPAH).Conclusions This project significantly improved genetic testing implementation, documentation, and referral pathways for IPAH patients. Reclassification to HPAH facilitates cascade screening for family members and may affect future outcome including eligibility for targeted therapies and participation in trials such as StratosPHere 2. 2Reference Humbert M, Kovacs G, Hoeper MM, et al. 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Heart J. 2022;43(38):3618-731.Deliu N, Das R, May A, et al. StratosPHere 2: study protocol for a response-adaptive randomised placebo-controlled phase II trial to evaluate hydroxychloroquine and phenylbutyrate in pulmonary arterial hypertension caused by mutations in BMPR2. Trials. 2024;25(1):680.Abstract 197 Figure 1Genetic testing status of IPAH patients at baseline (April 2024) and after 2 cycles of quality improvement interventions (November 2020) demonstrating improvement in testing and results availabilityAbstract 197 Figure 2Proportion of IPAH patients with genetic testing completed at baseline (April 2024) and after quality improvement interventions (November 2020) showing a significant increase in testing over time.",
  "authors": [
    {
      "affiliations": [
        "Royal Free NHS Foundation Trust, London, United Kingdom"
      ],
      "name": "Anesa Noor"
    },
    {
      "affiliations": [
        "Royal Free NHS Foundation Trust, London, United Kingdom"
      ],
      "name": "Catherine Beattie"
    },
    {
      "affiliations": [
        "Royal Free NHS Foundation Trust, London, United Kingdom"
      ],
      "name": "Joseph Cainap"
    },
    {
      "affiliations": [
        "Royal Free NHS Foundation Trust, London, United Kingdom"
      ],
      "name": "Gerry Coghlan"
    },
    {
      "affiliations": [
        "Royal Free NHS Foundation Trust, London, United Kingdom"
      ],
      "name": "Adele Dawson"
    },
    {
      "affiliations": [
        "Royal Free NHS Foundation Trust, London, United Kingdom"
      ],
      "name": "Vinoja Has"
    },
    {
      "affiliations": [
        "Royal Free NHS Foundation Trust, London, United Kingdom"
      ],
      "name": "Jennifer Halliwell"
    },
    {
      "affiliations": [
        "Royal Free NHS Foundation Trust, London, United Kingdom"
      ],
      "name": "Clive Handler"
    },
    {
      "affiliations": [
        "Royal Free NHS Foundation Trust, London, United Kingdom"
      ],
      "name": "Javier Jimenez"
    },
    {
      "affiliations": [
        "Royal Free NHS Foundation Trust, London, United Kingdom"
      ],
      "name": "Daniel Knight"
    },
    {
      "affiliations": [
        "Royal Free NHS Foundation Trust, London, United Kingdom"
      ],
      "name": "Tushar Kotecha"
    },
    {
      "affiliations": [
        "University College London, London, United Kingdom"
      ],
      "name": "Vivek Muthurangu"
    },
    {
      "affiliations": [
        "Royal Free NHS Foundation Trust, London, United Kingdom"
      ],
      "name": "Benjamin Schreiber"
    },
    {
      "affiliations": [
        "Royal Free NHS Foundation Trust, London, United Kingdom"
      ],
      "name": "Genevieve Shouls"
    },
    {
      "affiliations": [
        "Royal Free NHS Foundation Trust, London, United Kingdom"
      ],
      "name": "Nina Karia"
    }
  ],
  "title": "197 Improving genetic testing pathways in idiopathic pulmonary arterial hypertension",
  "uid": "438a6a0f-bd99-5661-a8bc-ff6410b503e3"
}