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ESHG 2013: Do you want the good news or...

Lucas Smink
| Jun 08, 2013

Paris at nightI normally like getting the bad news first. Last night on the news it was reported that 1 in 2 of us will get cancer during our lifetime, a bit of a scary statistic. The good news was that more of us will live longer with cancer or be cured of cancer. The same news bulletin also had a story on detection of Down syndrome and how this could be done earlier, and with higher accuracy.

As I am travelling to this year's ESHG meeting in Paris, I am wondering what will be the main topics for discussiob during the next four days. Last year there were a lot of exome focus talks, will there be a shift towards more whole-genome and what about a shift towards clinical applications. Last year held some promise but will there be examples of clinical implementation this year? Judging by some of the session titles, I am sure we will hear more examples of clinical implementation.

No matter what, looking at the program it is clear that next-generation sequencing is a big focus, there are sessions on the current state of NGS, and what will be next. This years's meeting also  feaurest a session on the use of NGS in the clinic, an educational session to introduce NGS to clinical scientists, and one of the talks in this session also focuses on analysis. Data analysis is becoming a huge area of interest and there are a number of analysis tools sessions, a software vendor session, as as well as a poster session dedicated to bioinformatics. Analysis is clearly a very hot topic. It be interesting to see where the big bottlenecks are and also get a better picture of what is required by clinicians.

I mentioned that better and more accurate detection of Down syndrome was a topic on the TV news last night. Prenatal diagnosis and preimplantation screening is again a area of huge interest this year at ESHG, with a session on reproductive genetics and newborn screening.

No matter what though, cancer always seems to have a very big focus. Over the next four days there are a large number of sessions dedicated to cancer, as well as individual talks in other sessions, not surprising given our lifetime statistics of acquiring this disease. When we talk about cancer, we tend to lump it into a single disease, but is clearly many different diseases. Even individual cancers such as breast cancer seem in reality many different diseases. To ensure that more and more of are cured of cancer, sometimes referred to as a disease of the genome, we need to not only understand the cancer genome, but the transcriptome, and the epigenome. The cancer genetics session has talks covering all these as well as the exome.

I am really looking forward to all the interesting talks and posters of this year’s ESHG and I am also looking forward to sharing this.