PP-32 Palliative care in the context of rare diseases and the valuable integration of genetic data

<h3></h3> Currently over 7,000 rare diseases with a low prevalence and mainly affecting children are known. Of these, about 80% show a complex genetic landscape, 95% do not have adequate resolutive treatment, and 30% of affected children die before the age of 5 years old. Considering the life-threatening scenarios that often significantly reduce patients’ survival, the aim of this presentation is to analyze the current end-of-life approaches and to suggest an early characterization of the recurrence risk in patients’ relatives by integrating genetic data. An extensive literature review was conducted on PubMed with ‘palliative care in rare diseases’ and ‘palliative care in genetic diseases’ keywords and only relevant research and guidelines articles were selected in the 2010–2024 publication date range. The literature shows that, although oncological palliative care is the most established model, the clinical pictures of patients living with a genetic rare disease often require similar levels of physical, mental and network support. However, considering the progressively debilitating and often uncertain course of genetic rare diseases, a ‘transitional’ end-of-life care model should be implemented, offering the opportunity to gradually approach invasive medical interventions and to emotionally process the eventuality of patient’s Do Not Resuscitate orders or death. Genetic counselling, integrated with the patient’s and their relatives’ genetic analysis, might help to relieve parents’ feelings of distress and guilt, to provide more prognostic details, and to estimate or recognize early family recurrence risk, highlighting potential genetic inheritance patterns. The literature review shows that end-of-life care needs to be tailored based on the single patient and their disease to significantly improve quality of life, avoid dysthanasia and support the patient and their family in accepting a possible fatal outcome and managing bereavement.