Clin Genet. 2011 Oct 20. doi: 10.1111/j.1399-0004.2011.01801.x. [Epub ahead of print]
Valuing Gene Testing in Children with Possible Neurofibromatosis 1.
Source
Department of Medical Genetics, University of British Columbia, Vancouver, Canada Child & Family Research Institute, Vancouver, Canada.Abstract
With the growing number of clinical guidelines recommending genetics tests in routine clinical care, the value of these tests should be evaluated. We examined the economic value of offering genetic testing to children with possible neurofibromatosis 1 (NF1) in British Columbia. Diagnosis of NF1 is usually made based on diagnostic clinical criteria, but molecular diagnostic testing, currently offered on a case-by-case basis in B.C., now reliably diagnoses NF1 in 95% of cases. Children who present with some clinical features but whose findings are insufficient to meet the diagnostic criteria are labeled as having "possible NF1." Current guidelines call for these children to be followed as they have NF1, leading to annual ophthalmologic exams and screening for complications; thus, there are increased costs to the health care system. We created a model to account for these costs to the health care system, comparing the current protocol with one that would offer all children diagnosed with possible NF1 with genetic testing. Focusing on the incremental cost allowed us to determine that genetic testing provides good value, and patient interviews provided insight into the qualitative benefits of an earlier firm diagnosis. These findings may be helpful in guiding health policy decision making.© 2011 John Wiley & Sons A/S.
- PMID:
- 22014292
- [PubMed - as supplied by publisher]
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