Masters Thesis

Disability and quality of life in retinoblastoma survivors: implications for considering inclusion on the newborn screening panel

In order to be an effective public health tool, the Newborn Screening panel (NBS) must only include technology that is affordable, reliable, and fast. Historically, molecular testing was so costly that it was not feasible to consider adding molecular testing to the NBS. Molecular technology has advanced to become cheaper, faster, and less labor intensive over time, and the door is opening to the discussion of the cost/benefit analysis of including molecular technology on the NBS. Hereditary retinoblastoma is a good candidate for the inclusion on the Newborn Screening panel due to a well-defined natural history and accessible and effective treatment plan. To nominate hereditary RB for inclusion in NBS, early diagnosis and treatment must demonstrate a significant improvement in morbidity of hereditary RB survivors. This study compares outcomes between hereditary RB survivors diagnosed at birth to those diagnosed at symptomatic presentation using data self-reported in an online questionnaire. Favorability of NBS inclusion among the RB community was also assessed by the questionnaire. The study also sought to broaden understanding of the experiences and challenges of hereditary RB survivors to direct future studies of the benefits of early diagnosis. Other analyses include the relationship between subjective and legal disability in RB patients and the efficacy of current RB screening practices. Qualitative analysis of challenges reported by RB survivors to both inform future research focusing on NBS inclusion as well as to enrich understanding of how RB affects survivors over their lifetime.