Dying to see you? Deaths on a clinical genetics waiting list in the Republic of Ireland; what are the consequences?
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ORIGINAL ARTICLE
Dying to see you? Deaths on a clinical genetics waiting list in the Republic of Ireland; what are the consequences? Lisa Bradley 1 & Sally Ann Lynch 1,2 Received: 21 August 2020 / Accepted: 20 October 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Attempts to put a value on a clinical genetic consultation are challenging as outcome measures are not easily quantified. One technique is to consider the negative consequences to a referred patient who is never seen. In order to estimate possible negative effects and by default the value of a genetics consultation; we sought to identify the consequences both to the proband, who died awaiting appointment, and their relatives. We audited 45 referrals to our service who died on our waiting list since 2008. Of these, 39/45 were new referrals, and the remainder, 6/45, died awaiting a follow up appointment. Relatives from 14/45 (31%) families have been counselled since the proband’s death. We estimated a minimal total of 207 living first degree relatives to 45 probands. The majority (30/45) were referred for cancer risk estimation (1 predictive, 29 diagnostic), 11 developmental delay/ dysmorphology referrals, 3 cardiac genetic referrals, (2 predictive testing, 1 segregation analysis) and 1 a referral for early onset dementia. The deaths of 17/45 cases were judged by us as having potentially significantly impacted the health of 76 first-degree relatives; 13/45 have potentially moderately impacted the health of 57 first-degree relatives; 12/45 posed a minimal impact to their relatives; and in 3/45 cases families were fully counselled. For each proband, significantly or moderately negatively impacted (n = 30), they have a minimum of 4.4 first-degree relatives, range 1–11, total = 133. Keywords Time to wait . Deaths on a waiting list . Clinical genetics . First degree relatives
Introduction As a non-acute specialty, traditional models of clinical genetic practice do not routinely involve patient management. As such, deaths on a clinical genetics waiting list do not generate alarm amongst health service providers. In contrast, patient deaths on acute medical or surgical specialties would generate investigation and action. However, the tragedy of these deaths is that the negative consequences impact not just the proband but also their healthy relatives as a possible hereditary disorder may remain undiagnosed and/or under-investigated, and opportunities for further investigation, surveillance and/or prophylactic surgery unexplored. Advancements in genomic technology resulted in increasing demand for genetic services * Sally Ann Lynch [email protected] 1
Department of Clinical Genetics, Children’s Hospital Ireland at Crumlin, Dublin 12, Ireland
2
School of Medicine and Health Science, University College Dublin, Dublin, Ireland
worldwide. This coincided with a global recession leading to austerity measures impacting health services in the Republic of Ireland (ROI). A perfect storm resulted which led to a deteriorating clinical geneti
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