Dr. Jay Shendure, Associate Professor of Genome Sciences, University of Washington, Jacob Kitzman, and team mapped the entire genome of a fetus using blood sample of pregnant mother and saliva sample of the father. The work has been published in the journal Science Translational Medicine. Amidst media speculation, the excitement of detecting genetic abnormalities early in pregnancy and apprehensions of what such a work could bring on, with regard to elective abortions and parental preference taking over natural processes, CureTalk brings you the views of the actual people involved in the work of such importance and magnitude.
Read on for an insight into what Dr. Shendure and Kitzman feel about their discovery.
Me: You and your team have managed to map the entire genome of a fetus. How does it feel?
We believe this marks an important step in the field of prenatal genetic diagnostics, and we are now focused on making improvements to the method so that it can be used in the clinic.
Me: The study mentions unique sequencing technology that allows mapping of even spontaneous mutations. Can you explain this method in simple terms for our readers?
We can detect new (“de novo”) mutations simply by sequencing the maternal plasma deeply. Sequencing the genome many times over and looking for sequence differences that appear in several reads helped us to differentiate between false positive errors and true de novo mutations in the fetal genome.
Me: What according to you and your team, may be the pitfalls of this effort?
For now, the pitfalls are the cost and the turnaround time. Our approach can harness the rapidly declining cost of genome sequencing across the field, including the much-touted prospect of a “$1,000 genome.” In addition, we are developing new, streamlined methods that may be used on a much shorter timeframe and with less hands-on labor.
Me: Do you think that parental preferences would decide who should be born once this technique is more affordable?
Noninvasive prenatal genome sequencing does not raise any fundamentally new ethical issues compared with existing prenatal diagnostics, and as with existing diagnostics, some expectant parents might prefer not to undergo testing. The major advantages of our approach are twofold: first, it is comprehensive – covering over 3,000 genetic conditions, for the vast majority of which no test currently exists; second, it is noninvasive, eliminating the risk to the fetus and mother accompanying procedures like amniocentesis.
Me: What are the two main uses of knowing a fetus’ genetic blue print?
Initially we think the most likely use of this information would be to screen for transmission of Mendelian disorders. In some cases (e.g., phenylketonuria), this could be used to guide post-natal treatment, and in the future, certain disorders could even be treated prenatally.
Thank you Jacob and Dr. Shendure.
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