Day 2 of the of the FOGM conference showcased some truly fascinating breakthrough talks, particularly related to how we diagnose and treat cancer.

Dr. Todd Golub of the Broad Institute gave a phenomenal talk on the need for better pre-clinical models in order to get drugs to market faster. He and his team utilized a high-throughput screening method called PRISM (Profiling Relative Inhibition Simultaneously in Mixtures), which relies on 24 nucleotide long biological barcodes that are stably integrated into genetically distinct tumor cell lines that allows screening drug candidates against a large number of cancer cell lines.

Hillary Theakston of the Clearity Foundation spoke about the importance of helping patients and families to ‘live in the future of genomic medicine’. Her foundation focuses on helping women suffering from ovarian cancer, which really lags behind in terms of survival compared to to other cancers. It’s mostly diagnosed in stage 3 or 4, and only 30% of women make it past 10 years. Clearity helps these women by spending hours of individual counseling on their unique case, including performing genetic testing of their tumor and trying to get them into drug trials that may be beneficial for their specific type of cancer–in fact, 27% of Clearity patients end up in a clinical trial. I found this talk particularly moving–while the science at the conference was incredible, it’s so important that we not forget about the patients in the process.

Dr. Mickey Kertesz, the CEO of Karius, spoke about the importance of effective clinical diagnoses. While most of the FOGM talks were cancer-related, Dr. Kertesz spoke about how we can use genomic testing to inform infectious disease diagnostics and treatments. Infectious diseases are the cause of ⅔ of the deaths of all children under 5 years old, so getting the proper treatment in a timely manner is absolutely crucial. Currently, even after 8 days in a clinical setting, only 38% of patients are diagnosed. Karius aims to improve that with their end-to-end sample processing that is able to detect circulating microbe DNA samples in the patient blood and check it for over 1,000 pathogens (possibly using 16S or metagenomic sequencing), leading to 50% of patients diagnosed in just ONE day–an enormous improvement.

Dr. C. Jimmy Lin of Natera spoke about his company’s new personalized liquid biopsy, Signatera. Signatera aims to increase the speed at which we detect cancer relapses by determining the unique clonal mutations in each patients tumor. They can then look for circulating cell-free DNA in the blood and sequence it deeply only on those specific genes (i.e., custom amplicon sequencing), looking for those same clonal mutations in the blood. Using this pipeline, they are able to detect relapses up to 100 days before they can be clinically diagnosed. The next step will be show that this can improve clinical outcomes. I wish them the best of luck with this–this could be a game-changer for diagnostics.

Dr. Kate Rubins is the first person to sequence DNA in space! It’s hard to describe how amazing this is. There are a lot of technical challenges to overcome when working in a vacuum, but Kate was able to successfully pull this off. Be able to sequence samples during space flight will certainly prove to be useful when we eventually take our first long-term mission and want to be able to sequence the samples we find ASAP!

That’s it for the Future of Genomic Medicine conference! Of course, all of the talks were fantastic and I didn’t have the space to summarize them all here. Check out the course overview here for more details.