Intended for healthcare professionals


Five minutes with . . . Richard Scott

BMJ 2017; 357 doi: (Published 04 April 2017) Cite this as: BMJ 2017;357:j1695
  1. Rebecca Coombes
  1. The BMJ

The clinical geneticist and lead on rare diseases at the 100 000 Genomes Project says that DNA sequencing is going mainstream

“The cost of DNA sequencing has dropped dramatically, owing to changes in technology, and it is continuing to drop. It took 13 years and $3.2bn to sequence the first human genome. Now it can cost as little as $1000, although that doesn’t include the costs of interpreting the data and generating a clinical report. The changes have made other forms of genetic testing cheaper too.

“The areas where genome sequencing has the most obvious clinical benefit are rare undiagnosed diseases and cancer. These are the focus of the government’s …

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