In late February, on Marco Island off the Florida Coast, the 11th annual Advances in Genome Biology and Technology (AGBT) meeting showcased the latest and most innovative new approaches in sequencing and genomics technologies. While the scientific sessions highlighted the expanding capabilities of next-generation sequencing systems—along with the emergence of robust single-molecule systems—the astonishing rise in sequencing capacity in recent years has created both opportunities and challenges within the research community.
A recurring theme at this year's conference was the use of next-generation sequencing to analyze large numbers of clinical samples, signifying a move toward the era of personalized genomics and medicine. Recent developments, especially in the area of targeted recapture of subsets of the human genome, have enabled researchers to look at large regions of the human exome in thousands of patient samples. The clinical application of targeted recapture has provided rapid follow-up to genome-wide association studies, and has the potential to identify common genetic variants in the human population as well as those rare genetic variants that could play a critical role in human disease.
Such techniques will undoubtedly be a welcome addition to any researcher's genetic analysis toolkit. These tools could be used by clinicians to determine treatment efficacy: for example, doctors could analyze genetic composition in a specific genomic region to determine whether a particular cancer therapeutic will work for a particular patient. But these advances and applications are creating new data that must be handled with care, and proper management will depend on the education of both doctors and the general public in modern genetics and genomics. Understanding this new influx of information—which will impact patients and healthy individuals alike—will be a challenge for many decades to come.
In 2005, George Church initiated the Personal Genome Project (PGP). Initially consisting of 10 individuals and now moving towards 10,000, the PGP 's goal is to generate not only genome sequences, but to also obtain related medical histories and personal information. The idea is that this “cocktail” of genomic and personal data will enable researchers to look for deeper connections that could uncover the genetic basis of disease. The PGP is a model for future genomic research efforts, since participants must establish informed consent through testing and counseling prior to enrollment in the project, so that they can make educated decisions with regards to their genetic information. And although the field of genome sequencing has grown furiously since the PGP effort began, the education portion, woefully, has not risen to the same level throughout the genomics community.
A good starting point is establishing better channels of communication with the public. Scientists need to be more active in engaging and explaining to non-scientists the enormous research and therapeutic potential of these large-scale sequencing efforts when it comes to identifying those rare genetic variants that could be the cause of human disease. But it is equally critical to address the various privacy and personal health questions that will arise with the knowledge of individuals' genetic makeups, and how this information could affect not only their own lives, but the lives of their children.
As we enter this burgeoning era of genomic medicine, scientists and the general public must work together to initiate and establish new advances in basic and clinical research. For this to happen, communication will be as key to the effort as any genome sequence. As always, post your thoughts and comments at our Molecular Biology Forums under “To the Editor” (http://molecularbiology.forums.biotechniques.com) or send an email directly to the editors (bioeditor@biotechniques.com).
