Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.

Abstract

PurposeGreat uncertainty exists about the costs associated with whole genome sequencing (WGS).MethodsOne hundred cardiology patients with cardiomyopathy diagnoses, and 100 ostensibly healthy primary care patients were randomized to receive a family history report alone or with a WGS report. Cardiology patients also reviewed prior genetic test results. WGS costs were estimated by tracking resource use and staff time. Downstream costs were estimated by identifying services in administrative data, medical records, and patient surveys for 6 months.ResultsThe incremental cost per patient of WGS testing was $5,098 in cardiology settings and $5,073 in primary care settings compared to family history alone. Mean six month downstream costs did not differ statistically between the control and WGS arms in either setting (cardiology: difference = −$1,560, 95%CI −$7,558 to $3,866, p=0.36; primary care: difference = $681, 95%CI −$884 to $2,171, p=0.70). Scenario analyses showed the cost reduction of omitting or limiting the types of secondary findings was less than $69 and $182 per patient in cardiology and primary care, respectively.ConclusionShort-term costs of WGS were driven by the costs of sequencing and interpretation rather than downstream healthcare. Disclosing additional types of secondary findings has a limited cost impact following disclosure.