Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia

Abstract

Purpose: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder of vascular development resulting in direct connections between the arterial and venous systems, bypassing capillaries. Symptoms and signs can appear throughout life and marked intrafamilial variability confounds diagnosis based purely on clinical criteria. We set out to determine the impact of genetic testing on the cost of screening for HHT in at-risk relatives. methods:We performed economic modeling of idealized pedigrees following two scenarios: repeated clinical screening until an HHT diagnosis could be either affirmed or excluded, and mutation testing in the proband, followed by genetic testing of at-risk relatives and clinical monitoring of only those relatives who test positive for the familial mutation.Results: Based on actual reimbursement data from our region's largest health insurer, the molecular diagnostic model saved over $22,000 for a family with four relatives at risk for the initial diagnostic work-up. For a cohort of 100 probands, the total savings for the molecular diagnostic model over a reasonable period of follow-up was greater than $9 million. conclusion: In this idealized setting in which all probands and at-risk relatives accepted molecular testing, the economic advantages of genetic screening over repeated clinical screening are substantial. 2012:14(6):604-610 Genet Med

The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing

“…To see more patients and to perform additional academic activities such as research and teaching, medical geneticists often choose to work overtime, and many continue to work evenings and weekends at home. 10 This situation may account for some of the frustration regarding the working conditions of professionals practicing medical genetics in this era, as was raised by the comments received in this study. The gap between the complexity and effort required for those working in medical genetics and the lack of proper appraisal of individuals and institutes providing genetic services is bound to have a negative effect on the attractiveness of this profession to those considering entering the field.…”

The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia

“…Such cascade testing of relatives can allow diagnosis in an entire family, followed by recommended screening and management. 24,25 …”

Characterization of a family mutation in the 5’ untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia

“…HHT presents a high and age-dependent penetrance, so once an index case is diagnosed within the family, the molecular genetic analysis of ENG, ACVRL1, SMAD4, and GDF2 can be used as a very predictive molecular diagnosis of the other at risk family members. Of note, some studies have found that a strategy of diagnostic genetic testing provides a more economically advantageous solution than the conventional clinical screening, because it reduces the number of clinical tests for those family members who do not have HHT [15].…”