Deborah Schofield|Luke Rynehart|Rupendra Shresthra|Susan White|Zornitza Stark
Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes
Macquarie University|Macquarie University|Macquarie University|University of Melbourne|Victorian Clinical Genetics Services|Murdoch Children's Research Institute|Melbourne Genomics Health Alliance|Victorian Clinical Genetics Services|Murdoch Children's Research Institute|University of Melbourne|Melbourne Genomics Health Alliance
undertake first endtoend costeffectiveness analysis exome sequencing es rare disease diagnosisa cohort 80 infants underwent es usual diagnostic care parallel used model incremental cost health outcomes quality adjusted lifeyears qalys attributable es diagnosis 20year horizon three models developed 1 outcomes patients 2 outcomes patients firstdegree relatives result cascade testing 3 outcomes patients firstdegree relatives including parental reproductive outcomeswhen directly observed cost health outcomes cohort participants projected use es resulted gain 739 qalys incremental costeffectiveness ratio icer au3114435 ie cost per additional qaly gained cascade testing firstdegree relatives added costeffectiveness increased gain 1162 qalys icer au2083957 parental reproductive outcomes added costeffectiveness increased 3600 qalys gained icer au1423528use es suspected monogenic disorders becomes increasingly costeffective benefits es data reanalysis cascade testing firstdegree relatives parental reproductive outcomes incorporated modeling