Competitive Fetal Genome Sequencing

Just a month ago, within a short span two similar papers were published on sequencing pre-natal/fetus genome using completely non-invasive approach. Both the papers are a major breakthrough enabled by Next-Gen Sequencing advances. However, we have not fully understood the papers’ clinical use, at least for now.

The first publication was in Science Translational Medicine, titled “Noninvasive Whole-Genome Sequencing of a Human Fetus “by Jacob O Kitzman et. al, from U. Washington, Seattle.  And the more recent one was in Nature, titled “Non-invasive prenatal measurement of the fetal genome” by H. Christina Fan et. al. from Stanford University.

Kitzman et. al. sequenced fetal genome using DNA samples from mother and father, while Fan et. al. just used blood DNA sample from mother alone (a much harder problem).

A quick look at the submission/publication dates suggests how competitive the field of genomics is. It looks like, the U.Wash group was in major hurry to publish their work first and published it in Sci. Tran. Med. on a kind of super-fast track.  The submission date detail shows that the paper was submitted on 16 May 2012; accepted on 25 May 2012, and published on 6 June 2012. Yes, it was accepted within a week’s time and published in 20 days.

The Nature paper was received on 1 March 2012; accepted on 23 May 2012, and published online 4 July 2012. These dates hint some interesting back story and show how competitive the whole clinical genome application is.

Both are very interesting papers showing the glimpse of applications of next-gen sequencing.  Stay tuned for a summary/review these papers at NextGenSeek soon.


  1. […] and Moleculo.  Verinata Helath’s pre-natal diagnostic test for down syndrome is based on Stephen Quake’s work on sequencing cell-free DNA and detecting “extra chromosome 21 material from the baby in the mother’s blood“. […]

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