One meeting to shape the world, one concept to bind us all - human genomics
Do you ever wonder what paramount events might be taking place behind the scenes that will shape your life and yet you never even know about it? One such event took place in Vancouver city not that long ago. And I'm not talking about some secret elitist meeting (because then I wouldn't be writing this), but rather, one of the biggest scientific conferences on one of the most prescient topics of importance to you or me, and yet it took place without much public notice or awareness. Nearly 8000 scientists, experts, and industry leaders from 66 countries gathered to share and discuss the latest developments and future directions of human genome sequencing. And if you think this will not impact you, you are wrong!
Looking at some of the attendees, smartly dressed, sharp, handsome, yes, these are the leaders of tomorrow! Others, disheveled, rushed, not same attention payed to their appearance, the iconic scientists, I wouldn't blame you if you didn't think that they should have much impact on your life. But it's precisely their dedication to profound scientific research that contributes to that look and to the fact that your life will be influenced one way or another by their collective efforts. Think of that phone in your pocket and what it took for it to get there. In the 80s, cell phones were rare and for only the super elite. Just ten years after their introduction they became commonplace. Genome sequencing is on that precipice where it is bursting into the mainstream and becoming commonplace, just like the cell phone. Ironically, that same phone could now house the analysis of your most precious biological information, your genome! It took thousands of individuals to bring that phone radiation dangerously close to some of your most precious body parts, and it took thousands of individuals to make your genome information accessible, and then more individuals to allow your genome to share the confines of your pocket along with that phone!
The conference, the largest of its kind, organized annually by the American Society of Human Genetics (ASHG), aptly chose to describe its purpose with following tag line: "Sharing discoveries. Shaping our future." And you can bet that everyone's future will be affected by the technologies behind human genome sequencing. Millions of individuals already have been. The onslaught of latest achievements in this arena was so vast, that it would take a small dedicated army of editors to cover all the content revealed. I asked the conference program chair, Dr. Anthony Anthonellis, if he could think of a phrase that could best describe it in a more familiar way, and he suggested it's like a Lollapalooza festival of science! So many events were going on concurrently, you could only hope you picked the right stage at a right time, otherwise you had a nagging feeling of jealousy that everyone else was enjoying a show somewhere else! I really wondered how best describe such event! I asked the ASHG communications manager, Nalini Padmanabhan, about her view of the conference impact. She eloquently stated: “ASHG's mission is to advance human genetics in science, health, and society through excellence in research, education, and advocacy. Our meeting touches on all of those goals: we provide a forum for the genetics and genomics community to share their latest research, educate themselves and each other about what's next in this field, and advocate for the beneficial and responsible use of scientific advances in the clinic and in society.” Well then, as a dedicated genetics geek who was excited about absolutely every presentation, here are my views of how our futures shall be changed.
So how will you be affected by genomic sequencing? Your health will be affected! Your genome contains the code that determines how your health can be impacted through your interactions with the surrounding environment. If you are born with certain mutations in the code, your biology will be impacted by these mutations. If certain mutations arise in your body throughout your life, your biology will be impacted. Some of these alterations can be tiny, affecting no more than a single nucleotide base at a time (and you have more than 6 billion of these bases in your entire genome with more of your own unique alterations than you have hair on your head, and some genomes are a lot more hairy than others). Other changes are so gross and grand in scale, that an entire chromosome can be duplicated or removed! Some of these changes can be detrimental to your health, some beneficial, and some will outright kill you. So you can screen for this information by genomic sequencing, whether in sickness, or in health, and that might inform you of what you could do to benefit yourself, or your child.
As you can imagine, the genomics conference had a multitude of presentations of various diseases and conditions. So many, in fact, it is impossible to cover them without producing some form of a thesis. Thousands of different diseases are now genetically confirmed, and thousands more are suspected. Just one timely example, was the discussion around the genes that might affect or regulate the development of Autism Spectrum Disorder. A giant international effort, in which Canada played a huge role, studied how novel mutations contribute to the development of this disorder.
Discussions took place of novel discoveries and interpretations of how the entire genome works, how it is regulated, which biological paths are influenced, what it could possibly mean for our ability to manipulate such pathways if they are disregulated, pinpointing where new drugs could be developed, or biologics administered. Yes, we are inching continuously closer to being able to manipulate our biology ever so smarter to our own desire The words "precision medicine" were being tossed around like confetti at the end of American Ninja Warrior. And indeed, our knowledge is getting ever more precise. We shall see how “precise” it really gets with time. It is fun to fantasize about super precise medicine, but reality of nature complexity might confound these efforts in ways that is unlikely to be anyone’s fantasy.
Noninvasive prenatal tests were a hot topic. With millions of woman having already been tested, plenty of summary data was presented. Yes, millions of women! From the efficacy of the test, to what else can be discovered with such a procedure, and how these methods are being continuously improved. Another topic du jour was the study of cancer through the interpretation of genomic alterations. Basically, testing the tumor for the genetic information that lurks inside can help to determine the best treatment approach for a given patient. One topic devoted to life, one topic devoted to events that can end it. Both expanding our possibilities of improving the quality of human health.
A big contingent from the genomic tests industry was present, showing off their latest accomplishments. Sweat, tears, and plenty of other bodily fluids (for DNA isolation of course!) from many individuals poured into hopes and ideals to transform our world for the better, while stacking good coin along the ride. The business impact of some of these companies could already be evident by their lavish presence, and a team of ridiculously young and ridiculously intelligent pros, ready to answer any challenging question you could ever attempt to throw at them. The technological moves forward are both awe inspiring but also intimidating. It's like seeing your badass grandpa in a swim suit, where part of you might have wished not to see the sight, but part of you was impressed by the rough tattoo that was inked by another inmate in the prisoner of war camp. Ok, let's hope that's not your grandpa story, but my grandpa escaped death so many times in his youth during WWII that if I crossed the street blindfolded for the rest of my life I probably still would have better chance of survival! You just know that after such experience, you better pay attention to what your grandpa says. And now that genomics is the modern challenge of our generation instead, it's worth listening to these industry leaders, their accomplishments also did not come cheaply.
But you are probably wondering: can we only detect genetic errors, or can we actually fix them. The answer to the second question is yes! The technology exists to alter the genome, almost seemingly at will! The technology is still years away from being precise enough for clinical applications, but rapid advances are being made in that scientific arena as well. That means we can willfully affect the course of evolution, and willfully we are testing the potential of genome editing to understand more function behind genomics.
If that scares you, you will be glad to know that a large section of the conference was dedicated to laws and ethics surrounding the emerging genomic technologies. Many meetings took place in a great effort to develop applicable universal policy standards and regulations, not only for science generation, but with a great emphasis on patient and consumer protection. The world of genomics is vast and complex, and very exciting in its promise, especially now as the hopes behind decoding the first human genome are finally materializing in big ways. Scientists work for all inhabitants of this earth, so end user protection is always a large part of scientific agendas.
It seems like sky is the limit! It is as if you always wondered about the stars and suddenly you were told that space travel was readily available. Would you step into that portal? I know I want to, especially if such a conference can be a true glimpse of what is yet to come. The future looks bright, even if we are challenged by the enormity of how rapidly we are unravelling the mysteries of our collective genomes that until recently were confined to interpretation by only our tiny cells. That's a big leap and as a consequence humanity will not be unaffected. It already is!
If you enjoy this work, let me know one way or another, pass it along, or just talk with others about this topic. It is always a profound conversation starter! At Merogenomics Inc. we offer consulting services to those who might be interested in accessing the powerful information genome sequencing provides.
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