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Day 2 of the EMEA Scientific Summit

Lukas Smink, Ph.D.
| May 17, 2014

day 2 of the Illumina scientific summit in Prague, 2014Oncology, Reproductive and Genetic Health as well as Informatics took centre stage during the second day of the EMEA Scientific Summit. Quite nice to see everybody present and accounted for, after a very good night with a very nice dinner in St Agnes Convent in Prague.

The Oncology session was kicked off by Jennifer Stone, Market Manager for the Oncology Business Unit. Last year during the ISS in Berlin in the Oncology breakout, we asked people to vote what would be the most important driver to make genomics part of standard-of-care practice. The overwhelming majority (63%) voted that clinical utility was the most important driver. Jen posed a similar question this year, in what is the actionable genome? Part of that includes of course clinical utility, but also that which is being included in practice guidelines and FDA-approved tests.

Patrik Stahl continued the session, speaking on digital pathology and histology using spatial transcriptomics. This innovative method analyses cells in the context of the genome, combining gene expression information with histological information, and is nicely described here. They have developed the method on the olfactory bulb but also used it to investigate breast cancer. Ido Amit also uses a transcription-based approach, massively parallel single-cell RNA-Seq (MARS-Seq) as powerful marker-free approach to classify heterogeneous cell populations.

The final speaker in the session was Holger Sueltmann, who discussed the recent progress in prostate cancer genome sequencing. Holger focuses on early onset prostate cancer, defined as those patients who get prostate cancer at age 50 or earlier, which only accounts for 1-2% of all cases. As part of the study, 200 tumour/normal pairs were studied using whole-genome sequencing, mate pair sequencing, RNA-Seq, and Methyl-Seq. One key observation is that epigenetically regulated miRNAs affect key pathways in prostate cancer.

The Reproductive and Genetic Health session was introduced by Richard Shippy, Director for Product Marketing. Rich highlighted the new VeriSeq PGS Kit, which allows accurate screening of all 24 chromosomes for aneuploidy in a single test on the MiSeq, and visualized using the BlueFuse software.

Dagan Wells discussed that 1-5% of all births in industrialised countries are actually made possible through IVF; in contrast though only 30% of the IVF cycles actually produce a pregnancy. Current methods of embryo selection are based on morphology and the current methods are subjective, and 85% of the embryos that are transferred do not implant. Genetic abnormalities are very common and explain most of the implantation failures and miscarriages, Dagan discussed the use of NGS to accurately select only the euploid embryos.  

All in all, a very interesting and enriching two days, it is always inspiring to see how our customers are using Illumina technology. Until next year, na shledanou from Prague.