I am happy to give a brief summary of most presentations that formed part of the program of the ‘Genomic Medicine Conference 2017 Cambridge’, just being held on September 26-27th at the Murray Edwards College in Cambridge, UK. It was organised by Biotexcel. It was one of those events in which I was able to learn a lot and feel really inspired. Great place for networking and meeting colleagues both from industry and academia. Below I present some important points to take home and some pictures I took while at the conference.
Professor Eamonn Maher presented his findings in the study of multiple primary tumours in a large cohort (>400) of patients with two primary tumours aged <60 or 3 tumours aged <70 years who tested negative on standard NHS testing. Application of whole genome sequencing identified pathogenic/likely pathogenic mutations in a cancer predisposition gene in up to 15% of cases.
Prof David Van Heel from East London Genes and Health presented Human (adult) knockouts. A couple of sister projects came out in the past year in Science and Nature on Pakistani populations, one base in the US and the other one in the UK (see picture below). This research makes use of inbred families to study genomic mutations in humans.
Prof Sharon Peacock presented the study in the East of England to sequence the surfaces and environments of likely drug-resistant infection in 29 livestock farms, retain meat and wastewater from 20 municipal treatment plants. Isolates were genetically compared with those associated with bloodstream infection in patients at the Cambridge University Hospitals.
Dr Gemma Chandratillake from the east of England Genomic Medicine Centre presented the results of a training assessment of needs in the East of England, with responses from >1000 NHS staff, from 40 hospital trusts and 2 primary care groups across the region. Awareness of the high-profile 100,000 Genomes project stood at 50% among all interviewed NHS staff with the appetite for training in genetics being high. Dr Chandratillake also presented a very compelling figure presenting the matrix relationships between Genomics England, the Department of Health, the NHS, Genomics Education, industry and beyond. This figure shows the essence of the current transformation of health in the UK.
Dr David Bentley, VP and CSO for Illumina presented current progress on Genomics England delivery of 30,000 genomes to date and technology development, PCR-free whole genome sequencing to support complex gremlin variants. Interestingly, Dr Bentley said in a panel discussion on ‘would you sequence your genome’ that he has not sequenced his in order to remain objective in his view of sequencing.
Prof Stephan Beck presented the Personal Genome Project, a citizen science project with the objective of advancement of personal and medical genomics. He paid special attention to open consent and access policies, genome donations and reporting of incidental epigenetic variants.
Professor Sadaf Farooqi from the University of Cambridge taught us many lessons about obesity. Studying a cohort of individuals with severe early obesity onset, leading to identification of mutations in the gene encoding for the hormone leptin. This led to a better understanding of how this hormone is involved in the regulation of eating behaviour. The recruitment of extremely the people for another study also demonstrated that most of them when studied proceed from families where thinness is common. All in all Prof Farooqi gave a very illuminating talk on the genetic basis of obesity.
Dr Serena Nik-Zainal from the Sanger Institute provided a revealing presentation on the mutational landscape of cancer genomes. It was very interesting to see that each cancer patient has a different set of driver mutations, regardless.
Dr James Hadfield, from CRUK presented technologies in genomics, including single-cell and nanowire sequencing and their challenges when applied to detection of low allele frequencies in heterogeneous cancer studies.
Professor Carlos Caldas also from CRUK presented, saying that ‘cancer is a misnomer, that is, it is not one disease, but many.
Dr Erin Elhaik from Sheffield University presented his views on what constitutes according to him a major reason for failure in clinical trials. He states that by looking at genotypes to establish the right demographic stratification of trials would improve failure rates, determining whether the drug has therapeutic benefits for specific groups. Further, he presented his studies tracing ancient origins and evaluation of ancestry hypotheses. The picture below shows some of the predicted migrations of populations such as the Ashkenazi Jews or the British.
All in all, I feel it was a very positive experience. The conference wasn’t too big and I had the chance to access and talk with speakers easily. The food was also very good. I’m definitely up for it next year!