Dying to see you? Deaths on a clinical genetics waiting list in the Republic of Ireland; what are the consequences?

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: Clinical genetics; Deaths on a waiting list; First degree relatives; Time to wait.

Fig. 1

Estimation of the number of living first-degree relatives (FDR) by sources of information. Total number = 207 living FDR, FHQ = family history questionnaire

Fig. 2

Fluctuation in referral numbers per year and livebirths over study period. The year of introduction of various initiatives to mitigate the negative factors impacting the waiting list (w/l) are indicated by the numbered arrows: (1) Leaflets introduced in lieu of appointments for common disorders (Clefting, neural tube defects, Hypermobility, Trisomy 21). (2) Mainstreaming by oncologists for ovarian cancer testing. (3) Letter to oncologists requesting communication regarding probands that were terminally ill and that necessitated urgent review

Fig. 3

Impact of proband death: to proband and FDR with reference to referral type and DNA storage

Fig. 4

Adult referrals, consequences with regard to numbers of FDR requiring surveillance. FDR first-degree relatives, f female, m male, Br breast, ov ovarian, ca cancer. (1) https://www.hiqa.ie/sites/default/files/2017-01/HTA-breast-cancer-technical.pdf date accessed 19/08/2020. (2) https://www.hse.ie/eng/services/list/5/cancer/profinfo/guidelines/diagnosis-and-staging-of-patients-with-ovarian-cancer.pdf (date accessed 19/08/2020). (3) Grazioli G, Sanz de la Garza M, Vidal B, et al.. Eur J Prev Cardiol. (2017) Prevention of sudden death in adolescent athletes: Incremental diagnostic value and cost-effectiveness of diagnostic tests. Sep;24(13):1446–1454. doi: 10.1177/2047487317713328. (4) https://www.hiqa.ie/sites/default/files/2017-01/HTA_population_based_colorectal_cancer_screening_programme.pdf (date accessed 19/08/2020)