Whole-genome sequencing

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Whole-genome sequencing is genetic sequencing of all an organisms genome. Although directed techniques such as whole-exome sequencing will for most clinical disease be more resource effective at 2009 US prices it costed about $50,000 to define a new mutation in the case of a family with Charcot-Marie-Tooth disease and define further the genetic component of carpal tunnel syndrome as a serendipitous finding[1].

Issues with human whole-genome sequencing

As of 2010 it is projected that the price will rapidly fall. This will mean many more will need to be informed of the issues[2]. These include:

  1. Patients will require complex and detailed information to make informed choice
    • Effective ways of conveying this information have yet to be both developed and evaluated
  2. Information overload
  3. Enormous uncertainly in some results
  4. Whole-genome sequencing is not quite the same as whole genome determination as different methods can have limitations. Some do not determine:
  5. There is no standard repository for all clinical conditions, clinical risk and genetic or other relevant clinical interactions to guide interpretation presently
  6. It is likely to reveal many unusual or previously unknown sequences
  7. Todays genetic knowledge can rapidly be made out of date due to rate of progress


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