Valuing gene testing in children with possible neurofibromatosis 1
Article first published online: 12 NOV 2011
© 2011 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd
Volume 82, Issue 6, pages 591–593, December 2012
How to Cite
Tsang, E., Birch, P. and Friedman, J. (2012), Valuing gene testing in children with possible neurofibromatosis 1. Clinical Genetics, 82: 591–593. doi: 10.1111/j.1399-0004.2011.01801.x
- Issue published online: 6 NOV 2012
- Article first published online: 12 NOV 2011
- Accepted manuscript online: 20 OCT 2011 09:21AM EST
- Received 24 May 2011, revised and accepted for publication 17 October 2011
- British Columbia;
- economic value;
- genetic testing;
- neurofibromatosis 1
Tsang E, Birch P, Friedman JM. Valuing gene testing in children with possible neurofibromatosis 1.
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 BC, 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 labelled as having ‘possible NF1’. Current guidelines call for these children to be followed as they have NF1, leading to annual ophthalmologic examinations and screening for complications; thus, there are increased costs to 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.