Document Detail

Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia.
MedLine Citation:
PMID:  22281938     Owner:  NLM     Status:  Publisher    
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.Genet Med advance online publication 26 January 2012.
Barbara A Bernhardt; Cara Zayac; Scott O Trerotola; David A Asch; Reed E Pyeritz
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-1-26
Journal Detail:
Title:  Genetics in medicine : official journal of the American College of Medical Genetics     Volume:  -     ISSN:  1530-0366     ISO Abbreviation:  -     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2012-1-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9815831     Medline TA:  Genet Med     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
1] Division of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA [2] The Raymond and Ruth Perelman School of Medicine, Center for the Integration of Genetic Healthcare Technologies, University of Pennsylvania, Philadelphia, Pennsylvania, USA [3] Center for Bioethics, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
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