Current trends in genomics

This October, the Festival of Genomics was held in Boston just down the street from our Kerafast office. Scientific researchers, clinicians, pharmaceutical company representatives and other stakeholders gathered to discuss the current state of genomics, which is the study of genes and their functions.

Topics discussed included the basic science of genomics, its translation to drug development, and the various ethical, financial and societal implications of the rapidly changing field. Below, we highlight some of our key takeaways from the conference.

The rise of single-cell genomics

Technology has now progressed to the point where researchers are able to study genomics at the single-cell level. To date, researchers have been limited to looking at genomics on the organ or tissue level. For example, the Genotype-Tissue Expression Project (GTEx) has been looking at genes and gene expression variation across many different tissue types, with the aims of cataloguing tissue-specific genes and using this information for drug target discovery and evaluation.

Now, however, researchers are looking at gene expression within individual cells. Last year, an international, collaborative team began work on the Human Cell Atlas, a project to create an open-access comprehensive reference map of all human cells. The idea, researchers at the conference said, is to do for cells what the Human Genome Project did for genes.

Currently, the number of cell types within the human body is unknown. Researchers hope the Human Cell Atlas will characterize all cell types and their properties, providing critical insights about cell development and interaction. Scientific teams are also exploring epigenetic regulation on a single-cell level, as well as techniques to map out the spatial organization of individual cells. End goals include using this information to better understand, diagnose and treat human disease.

 Impact on drug development

 A panel of pharmaceutical industry representatives discussed how genomic research insights are helping to develop new medicines. The panel agreed that genomics is slowly helping to decrease drug discovery attrition rates, a major problem in the pharmaceutical industry; currently, the majority of drugs with preclinical promise fail during clinical trials.

Genomics is helping pharmaceutical companies select highly validated drug targets with higher probabilities of success. In addition, studying the genetics of a particular drug target can lead companies to stop development programs on that target earlier in the process, saving time, resources and money.

 Moving beyond the science

 The Festival of Genomics also looks beyond the science of genomics, with a variety of talks on the different societal implications of the genomic field. For example, discussions were held on how to best keep personal genetic information private and the various ethical implications of gene editing, in particular using CRISPR for embryo editing. (For more on the CRISPR gene editing technique, check out our recent CRISPR 101 blog post.)

Another area explored was the financial sustainability of genomic medicines. Genomic medicine is evolving rapidly, with new diagnostic tests continually becoming available. Health insurance companies are therefore struggling to gauge which tests and treatments to reimburse; their traditional modes of evaluation are not moving fast enough to keep up with the pace of discovery.

Finally, another interesting panel covered how the public is interacting with and learning from their genomes. Moderated by journalist Carl Zimmer, whose “Game of Genomes” article series outlined his quest to understand his full genome sequence, the panelists discussed the rise in consumer genetic products, both for recreational and medical purposes. There are certainly benefits to more people having their genomes sequenced; for example, with more and more aggregated sequencing data available, scientists can use that information for new discoveries. However, with direct-to-consumer genomic products increasingly available, there is a need to make sure people understand the information they are receiving and are ready to handle any negative results.

In conclusion, the Festival of Genomics conference provided an interesting look at many different angles of genomics. If you’re a researcher working in this field, be sure to check out our reagents for studying gene expression, developed by academic investigators worldwide and made easily available to help advance scientific progress.