The American Society of Human Genetics convened for their 65th annual meeting last week in Baltimore. Over 6000 scientists and clinicians, joined by counselors, educators and patients, gathered to present, discuss and debate the latest developments in genetics research. We at Nature Genetics were fortunate enough to be in attendance and we wish to share some thoughts about this exciting and thought-provoking conference.
ASHG 2015 brought together a diverse group of multi-talented scientists whose research has direct impacts on our life and health. Genetics is an established field with a solid pedigree, but rapidly changing technologies are revolutionizing the ways that research is being done. The innovation and acceleration of the work is at an unprecedented scale. This, combined with the ingenuity and tenacity of geneticists, has resulted in exciting new avenues of research that increase our understanding of fundamental elements of biology, health and disease.
There were myriad examples of incredible, cutting-edge research being applied to different areas, including cancer genetics, precision medicine, genetic manipulation, complex trait analysis, bioinformatics and population studies, among other things. Although new technologies bring new challenges, we are very excited to witness such skillful application of modern techniques to problems both old and new.
Precision Medicine Initiative
A near-ubiquitous topic of this meeting was any permutation of precision medicine and how best to bring it to clinical fruition. Director Francis Collins outlined the National Institutes of Health Precision Medicine Initiative, detailing the goals and timelines for this large, ambitious project. Coordination of the collection and analysis of data, coupled with establishing solid protocols for patient consent and data usage, is shaping the way that 21st century health care is administered. From cancer treatment to disease susceptibility, unlocking individualized DNA sequences from many different people will advance not just personalized treatment, but also our understanding of the genetics of various populations on a larger scale.
The promises of personalized genomic medicine are far from realized. Sequencing technologies have allowed for the compilation of incredible amounts of data. However, it is the interpretation of those data that is the most important element in terms of how to be actionable when considering, for example, therapeutic options for cancer treatment. Optimal sequencing parameters, proper variant calling and correct identification of causative mutations all contribute to the “precision” of the medicine and present considerable challenges to clinicians and researchers. This meeting featured many examples of researchers tackling this problem of functional characterization of variants, whether by using predictive, high-throughput or in vivo methods, which will be crucial for the effective usage of clinical genomic data.
Emmanuelle Charpentier and Jennifer Doudna are by now scientific-household names. Their pioneering work on the CRISPR/Cas9 genome editing system has profoundly changed the landscape of biological, and particularly genetic, research. Together, they were honored at ASHG with the Gruber Genetics Prize award in recognition of their groundbreaking contributions to genetics research. As a story for how basic research can lead to unexpected and spectacular discoveries, the ingenious application of the bacterial CRISPR/Cas9 anti-viral machinery to precise genome editing in virtually any organism stands out as particularly elegant and practical.
The sheer number of presentations that utilized CRISPR/Cas9 technology in order to create exact mutations in different model organisms or cell lines for functional analysis underscores the widespread impact of this astonishing finding. The influence of genome editing on the field was additionally felt in the realm bioethics, where there were discussions about its responsible use and ethical application, especially as it applies to human genetics. CRISPR/Cas9 has fundamentally changed genetics research and has opened up entire new possibilities for the study and treatment of disease, so it is fitting that Dr. Charpentier and Dr. Doudna were recognized at ASHG.
From Old to New
This year marks the 150th anniversary of Mendelian genetics. In 1865 Gregor Mendel first made his report on heritable traits; ASHG recognized and celebrated this milestone throughout the conference. Remembering the modest, pea plant origins of the “science of heritability” while listening to reports on the most up-to-date advances in human genetics really highlighted how remarkable this research is and how far it has come. It makes us think about how the field has changed since 50, 10 or even 5 years ago and allows us to apply that metric to the future, and to dream about all the changes that could come in the years and decades ahead.
Sequencing technology, genome editing, gene therapy and personalized medicine are just some of the frontiers that are currently defining the latest genetic and genomic research. These advances in techniques are being accompanied by other changes as well. In his opening symposium address, ASHG president Neil Risch emphasized the society’s strong commitment to increasing its diversity and rewarding mentorship. Examining ways to foster the curiosity and creativity of all researchers will help lead to the next set of groundbreaking innovations that redefine the field.
See You in Vancouver
Based on what we saw at ASHG this year, we are heartened and inspired by all the extraordinary work that is being done and we are truly excited about future of genetics research. We already can’t wait for ASHG 2016!