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Using the ClinVar database to investigate the reasons behind the uncertain and conflicting interpretations of genetic variants, with the aim of aiding and improving patient diagnosis and care

It is widely acknowledged that there are better outcomes for people living with Human Immunodeficiency Virus (HIV) infection, with early diagnosis and early access to treatment. Successful anti-retroviral treatment enables the best clinical outcome for the individual and renders the infection untransmissible to others. Late diagnosis is associated with significant morbidity and mortality for people living with HIV (PLWH). Late diagnosis also incurs a greater financial burden on healthcare systems. There is a significant number of PLWH attending services at University Hospital Galway who had a late diagnosis of HIV infection, especially with CD4 count < 200 cells/mm3. We expect there were missed opportunities for this diagnosis when patients attended either primary care or University Hospital Galway, which is a Model 4 hospital for the Saolta healthcare group. We will conduct a retrospective investigation of patients' healthcare records for previous attendances in which HIV testing could have been considered. Previous international studies have allowed for clear categorisation of missed opportunities, with each late diagnosis of HIV considered a serious incident. We will consider patient demographics and clinical context of healthcare encounters. In 2013, O' Shea et al. found their patients with late diagnosis at Beaumont Hospital, Dublin, were more likely to have symptoms when diagnosed, and that these patients reported prior healthcare contacts (O'Shea et al., 2013). We anticipate that there is a similar isue in Galway and other healthcare centres nationwide, and we aim to examine this in more detail. To our knowledge, there has been no investigation to date on missed opportunities for HIV diagnosis in Ireland. Our study will examine and quantify such missed opportunities relating to hospital attendance and primary care. Our findings will have significance for Model 4 hospitals, primary care, and public health.