A Practical Genomics Revolution is rolling out, owing to the dropping cost of DNA sequencing technology, accelerated DNA research, and the benefits of applying genetic knowledge in everyday life.
Given the expense – even at only $1000 a genome, a million still costs $1 billion US dollars — it is only right to ask, “What will the impact be?”
Just as with the three billion dollar Human Genome Project, the primary purpose of these projects is to improve human health. Current priority areas are cancer, rare genetic diseases, welfare of US veterans, and improving quality of life into old age. Admirable goals, these projects will play a second role in history.
Society gets more science out of larger numbers of genomes, just as any one individual does. This is because we need to study the variation found among many genomes to understand the exact sequence of any one genome.
The lasting value of these grand projects will be the shift in people’s interest and willingness to participate. Many people are just starting to accept the notion that most of us might one day be sequenced – or at least, the next generation.
Some are backing into the corner, saying they will never be sequenced, and if it becomes necessary (i.e. for medical reasons), they will never share the information beyond a doctor or immediate family members. Others are weighing up options and eyeing the playing field. The pioneering few are racing to get sequenced and those at the bleeding-edge are sharing the results.
George Church submitted the first sample to his Personal Genome Project, an aggressively ‘open data’ project that has now gained currency not only in the US, but in Canada, the UK, and most recently, Austria.
The whole playing field changes with ‘more data’ – if we share it.
“What if we had a DNA registry of people willing to donate organs and matches could be located as soon as the need is identified?”
This is the obvious allure of Ancestry.com’s DNA Circles and surname projects like those from Family Tree. Not only do you get your generic human ancestry report, you might find new family as well. You can even become curator for your entire clan. Just like with any social technology, such as fax machines, mobile phones, or Facebook, the real benefits come once there is wide-spread adoption.
The benefits of ‘more’ are equally apparent in the field of forensics. DNA profiles are commonly used to identify bodies lost in natural and man-made disasters. If we had the DNA of everyone, the identity of remains could always be established.
Successful identification requires viable DNA. As in the recent death of students in Mexico, sometimes even DNA in bones and teeth can be destroyed by intense heat. The DNA must also be processed correctly. It is still difficult to process mixed samples from low quantities of tissue and contamination is always a possibility, as in the famous case of the female serial-killer that turned out to be a DNA contaminant found on the cotton-swabs used by investigators. It is also possible to leave no DNA behind, plant false evidence, or as New York artist, Heather Dewey-Hagbord, explores in “DNA-spoofing”, to leave ‘fake DNA’.
Likewise, perpetrators of crimes would be identifiable. Burglars, murderers, child abandoners and rapist would be exposed. The FBI’s DNA database, CODIS, now contains over 300k DNA profiles. In just one of many recent reports, Houston police found 850 DNA matches to existing DNA profiles while clearing their backlog of 6663 rape kits.
How might a universal DNA registry reshape society? In the case of Houston, it would have led to 100% of tests finding matches, instead of only 13%. Even if the costs appear prohibitive, the benefits are clear, if hurdles surrounding privacy and proper use of the data can be cleared.
What if we had a DNA registry of people willing to donate organs and matches could be located as soon as the need is identified?
What if babies born with rare genetic diseases could be sequenced at birth by willing families and compared to a global database? At best, the identification of such cohorts might lead to the development of cures. At a minimum it might shed light onto a bewildering illness and bring some context and comfort to a difficult situation. A diagnosis is better than helplessly watching a child suffer with no idea what is causing the problem.
Some in genomic research object to super-sized studies saying funding should go to smaller cohort studies. The power of this approach is clear. Genetics company, 23andMe, recently earned $55m from selling existing data, largely because it includes a Parkinson’s disease cohort. Such cohort studies provide an essential way to elucidate the workings of genes and pathways, but large-scale studies also open the doors to the possibility of answering questions we don’t know to ask.
The value of building a collective pool of shared genomes is still going up fast because so much is remains unknown about the workings of our DNA and the distribution of the biologically significant variation that makes us all unique. The value proposition of the collection increases with size, but to a limit. We don’t need to sequence endlessly to answer certain questions, only if we want to answer all questions that can be best addressed using DNA.
Certainly, one very special cohort of individuals is arising – those who believe in the benefits of pooling data, the ‘genomic sharers’.
Featured image credit: DNA. Public domain via Pixabay.