By Jeffrey Kahn (Cross-posted:  Johns Hopkins Rising)


Last week, The New York Times reported that in the last four years the cost of sequencing a full human genome has dropped by a factor of 800 from just under $9 million in 2007 to just over $10,000 today with predictions that the elusive goal of a $1,000 genome is likely within a few years. What are the possibilities — and the implications — of having all that individual genomic data available?

 
There is great potential promise in sequencing the full genetic code for individual patients, all three billion base pairs, and storing it in electronic form so that it can be accessed for everything from determining the right drugs and the proper dosage to treat ailments to sophisticated assessment of the probability of susceptibility to cancer, diabetes and other diseases. But that potential will not be free or even cheap, not only in terms of money but in terms of some important risks that need to be considered, assessed, and hopefully addressed. Even at $1,000 per patient, full genome sequencing will introduce real costs in the short term, even if they may be recouped in more efficient and appropriate health care in the future. It is difficult to see how those costs can be absorbed at a time when cost containment is so high on the list of health policy goals. If the costs are to be borne by individual patients, then whatever benefits might be realized will be available only to those with the means to afford them and moving away from a system that creates access for all.

 

Genome sequences as part of clinical care means huge volumes of new data, stored along with or linked to traditional medical records. Traditional medical records represent the history of a patient’s care, with test results and information that offer a snapshot of an individual’s health at a given point in time and likely to change from one result to the next. But a genome sequence would be a one-time test of genetic makeup, whose results could be queried many times over the course of a patient’s lifetime. Who has access to the sequence and its test results, and for what purposes, must be considered — including whether patients have a right to perform genetic “tests” on themselves by querying their sequence for specific traits or mutations. More traditional concerns around privacy and security of personal information are also real, especially in light of incidental information with the potential to harm individuals and their families that might come from sequencing, such as misattributed paternity, refusal of life and disability insurance, and other foreseeable and unforeseeable outcomes. Security concerns can and should be addressed, using the same intensity of effort and creativity that brought sequencing within reach. That will go a long way toward addressing public reticence to sequencing as part of a standard panel of medical tests. The next step might be building on public confidence in ways that lead to access to collections of sequences from large parts of the population for research, leading to much better understanding of genetics in the context of the public’s health.

 

So what will keep us from realizing the benefits of ‘having our genomes done’? Among the answers is that the bottleneck will move from sequencing genomic information to storing and analyzing the staggering volume of data produced from increasingly wide sequencing efforts. As reported in the Times, it now costs more to analyze a human genome than to sequence one. But that just means that we’ve moved one step closer to predictions of a genetic future. Just as the cost of sequencing has plummeted, so too will the cost of storing and analyzing the data created. The only question is how soon, and that leaves us with little time for the pressing business of making sure we’re ready for what’s in store.

 


Jeffrey Kahn is Deputy Director for Policy and Administration at the Johns Hopkins University Berman Institute of Bioethics. Prior to joining the Johns Hopkins faculty in August 2011, he was director and professor in the Center for Bioethics at the University of Minnesota, positions he held from 1996-2011. He works in a variety of areas of bioethics, exploring the intersection of ethics and health/science policy, including research ethics, ethics and public health, and ethical issues in leading edge biomedical technologies.

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