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Testing options for an asymptomatic person with genetic risk

Targeted sequencing versus whole genome sequencing
30 June 2014

'Jim Mathis is a 45-year-old health-conscious man who has been a patient in an internal medicine–primary care practice for several years. At today's visit, he talks about the family tree that he has sketched out and his discovery that three of his relatives had cancer — one had breast cancer, one ovarian cancer, and one prostate cancer' .... Discussion in the NEJM of two testing options, i.e. targeted versus whole genome sequencing

Reply by Irene van Langen, Tom de Koning, Conny van Ravenswaaij, Cisca Wijmenga, Rolf Sijmons and Richard Sinke:
'Which technique is most appropriate to answer the question depends on performances and costs and the trade off between advantages and harms. One of the advantages or risks, depending on the viewpoints of those involved, could be the finding of pathogenic mutations not related to the diagnostic question at hand (incidental findings). If such mutations are known to be associated to diseases with preventive options (like CVD), this clearly would be advantageous information for the counselee and his or her relatives, provided that he or she consciously consented.

Since we consider the analysis of ‘actionable’ genes - not related to the initial medical indication - to be screening rather than diagnostic testing, the health care system should, in our view, not yet be burdened with its cost, even in a rich country like ours. But, if patients are willing to pay for this screening and counseling themselves, who are we to judge this negatively? If the costs of sequencing, including the interpretation efforts and number of unclassifiable variants, continue to decrease, whole genome sequencing (WGS) rather than gene panels or whole exome sequencing (WES' may indeed become the optimal technique. We (at the Dept of Genetics, UMCG, the Netherlands) still expect this to take several more years.'

See Full case vignette, New England Journal of Medicine, 19 June 2014, with readers´ comments

Last modified:09 July 2014 10.54 a.m.

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