By John Russell
September 28, 2010 | The Russell Transcript | As explored throughout this issue of Bio•IT World, the pace of next-generation DNA sequencing technologies’ advance is nothing short of breathtaking. To a considerable degree the new rate-limiting steps are data management and data analysis, yet these too are being steadily conquered. There are even new companies—Convey Computer is one example—springing up to help reduce the hardware burden while simultaneously speeding throughput.
Clearly, affordable deep sequencing will increasingly inform drug discovery, clinical trials, and health care management. Payers, pardon the pun, are already chomping at the bit(s): “I hope that 5-10 years from now my doctor will pull up my genetic profile before prescribing a drug for me. I think the dynamics of the market will change drastically: patients and pharmacies, together with the physician, will be the key decision makers regarding drug therapy,” noted Felix Frueh, VP, Medco Health Solutions, in a 2009 interview.
Governed by technology alone, the road to Frueh’s hopeful vision would be swift—most observers expect the magic $1,000/person price-point for sequencing to be reached within 3-to-5 years and given next-gen’s astonishing track record, there is every reason to believe the forecast.
Yet at least one broad speed bump looms and it involves answering important and often messy questions about the handling data itself. For example:
* Who will own the data and where will it be stored?
* What safeguards will be required? Would FDA have a role?
* Does the Genetic Information Nondiscrimination Act (GINA) of 2008 provide enough protection to win needed patient consent?
* Who will drive needed IT infrastructure and data handling technical standards?
Today, most DNA sequencing and genomic profiling are done in conjunction with a specific study and the institution conducting the study typically owns the data and oversees its storage. In the future when sequencing is done a truly massive scale, many patients, perhaps most, will want to own their genomic data and control its use, perhaps extracting a fee anytime an organization wants to access it, say for a clinical trial.
Government might step in and establish a repository, say at the National Center for Biotechnology Information (NCBI) for instance. Patient advocacy groups might offer themselves information brokers, or private companies could jump in and act as data warehouses and broker its use, sending check to patients when their information was used. One can imagine receiving an email inquiry from your data holder/broker inquiring about your willingness to participate in a study and detailing what you’d be paid for the use of your genomic information.
Some sort of brokered, for-profit activity seems likely, although, at a meeting I attended one speaker said, “What if I would like to donate my genome to science and make it available. That’s what I’d like to advocate: a massive health storage of data from anyone who has made the decision to make his or her genome public. The incentives are that when some high school kid in China discovers a cure for whatever ails you, that you’re notified.”
Data Sharing Challenges
No doubt a number of folks will wish to opt out of DNA sequencing altogether, preferring not to be sequenced or at least not wishing their information to be held by any third party; the caveat for them is that in 10-20 years it may not be possible to obtain the standard of care for most treatments without providing access to your sequence information.
Moving all of the genomic data around will be also a huge IT challenge. Currently, both technical (exchange standards and IT infrastructure) and cultural (investigators may resist sharing data) obstacles can impede data sharing. Moving forward, the sheer volume of patient genomic data will be staggering. Technology companies, by their involvement in standards groups and HIE development efforts could play a role here. Perhaps a major PHR system such as Microsoft’s HealthVault would incorporate the ability for individual who wish to securely and confidentially store their genomic data.
The point is we are awfully close to the time then the acceptable cost of doing deep sequencing on basically everyone will be reached, yet basic questions around genomic data ownership, how the data will be stored, and what the rules are for secondary use of the data stored remain unanswered. There will be exciting opportunities for enterprising companies and organizations to provide solutions to these questions.
This article also appeared in the September-October 2010 issue of Bio-IT World Magazine. Subscriptions are free for qualifying individuals. Apply today.