title: Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Bernhardt
authors.forename: Cara
authors.initials: C
authors.lastname: Zayac
authors.forename: Scott O
authors.initials: SO
authors.lastname: Trerotola
authors.forename: David A
authors.initials: DA
authors.lastname: Asch
authors.forename: Reed E
authors.initials: RE
authors.lastname: Pyeritz
mesh_terms: D000328:Adult; D002675:Child, Preschool; D015331:Cohort Studies; D017046:Cost Savings / Q000191:economics*; D003625:Data Collection / Q000191:economics; D005260:Female; D005820:Genetic Testing / Q000191:economics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult