{
  "abstract": "Background Neurofibromatosis type 1 (NF1) is a neurocutaneous condition with tumour predisposition, and patients often face neuropsychiatric and psychosocial challenges. This study aimed to identify unmet needs of NF1 patients in Singapore to enhance patient care and service delivery.Methods 20 patients who were clinically or genetically diagnosed with NF1 were recruited for in-depth interviews. Interviews were transcribed verbatim and analysed using thematic analysis.Results Five themes emerged from thematic analysis: (1) NF1 trajectory begins from childhood; (2) Coming to terms with body and self; (3) Perceived acceptance drives disclosure patterns; (4) Need for specialised NF1 care; (5) Building local awareness and connections. Six key unmet needs were identified, namely the need for: (1) Optimised multidisciplinary NF1 care; (2) Management of neurological symptoms; (3) Management of cutaneous lesions; (4) Financial coverage for NF1; (5) Early NF1 screening; (6) Local awareness and support groups.Conclusion Addressing these needs can lead to actionable steps for improving care and quality of life for NF1 patients in Singapore.",
  "authors": [
    {
      "affiliations": [
        "Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore",
        "Department of Dermatology, Singapore General Hospital, Singapore"
      ],
      "name": "Agnes Lim"
    },
    {
      "affiliations": [
        "Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore"
      ],
      "name": "Zi Yang Chua"
    },
    {
      "affiliations": [
        "Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore"
      ],
      "name": "Celestine Loh"
    },
    {
      "affiliations": [
        "Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore"
      ],
      "name": "Priyadharshini d/o Suresh"
    },
    {
      "affiliations": [
        "Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore"
      ],
      "name": "Jeanette Yuen"
    },
    {
      "affiliations": [
        "Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore"
      ],
      "name": "Manasadevi Kartikeyan"
    },
    {
      "affiliations": [
        "Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore"
      ],
      "name": "Zhang Zewen"
    },
    {
      "affiliations": [
        "Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore"
      ],
      "name": "Jianbang Chiang"
    },
    {
      "affiliations": [
        "Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore",
        "Department of Dermatology, KK Women's and Children’s Hospital, Singapore"
      ],
      "name": "Mark Jean Aan Koh"
    },
    {
      "affiliations": [
        "Genetics Service, KK Women's and Children’s Hospital, Singapore"
      ],
      "name": "Nikki Wen Yan Fong"
    },
    {
      "affiliations": [
        "Genetics Service, KK Women's and Children’s Hospital, Singapore"
      ],
      "name": "Ee Shien Tan"
    },
    {
      "affiliations": [
        "Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore",
        "Genomic Medicine, Lee Kong Chian School of Medicine, Singapore"
      ],
      "name": "Joanne Ngeow"
    }
  ],
  "title": "Identifying the unmet needs of patients with neurofibromatosis type 1 in Singapore",
  "uid": "e2119b84-971d-57d8-99b7-3124fc3c52b8"
}