What Is the Cost of Private Genome Sequencing for Your Own Body?
Folklore holds that each snowflake is unique among its billions of neighbors. Whatever may be the more subtle truth behind the legend, there is vast scope for variations in personal biological makeups. Complex genetic, epigenetic and environmental factors determine how well many pharmaceuticals and treatments will work for specific individuals. Analyses of purely genetic information have their limitations, but frantic research is pushing the frontiers of comprehension ever outward.
Highly customized medicine seems likely to arrive in a big way for the masses over the next one to two decades. A number of doctors are already using genome sequencing on a limited scale in clinical treatment of patients for whom standard diagnostic techniques have failed. A few notable successes have been reported; still, genome analysis is in its infancy. It is all very well to know the exact genetic makeup of an individual, but knowing how to interpret that makeup is a different matter. The programming language of the body is deeply interwoven, and controversy swirls around the early claims of some researchers.
The most immediately useful applications of genome sequencing appear to be in the prevention and treatment of cancer, many forms of which are strongly linked to genetic flaws. Medical researchers have particularly targeted lung, prostate, breast and skin cancers for closer scrutiny of small but critical genetic variations shared by otherwise heterogeneous patients.
Capillary sequencing, the first successful approach to nearly full sequencing, is quickly being displaced by less expensive technologies. The National Human Genome Research Institute has been tracking an astonishing fall in the cost of sequencing an entire human genome. Nearly $10 million in the summer of 2007, the cost collapsed to approximately $10,000 by late 2011. Nanopore sequencing, a rising star in the field, promises to eventually produce complete genome sequences in hours or minutes at a cost of under $1,000. Other researchers have been focusing on alternatives such as SMRT (single-molecule, real-time) sequencing and pyrosequencing, which may or may not prove economically viable for personal genomics.
Regardless of uncertainties and ambiguities, the idea of knowing thyself at a deep genetic level will only grow in popularity. Having your personal genome sequenced may seem almost like a science-fictional scenario from the 1997 Hollywood film “Gattaca,” but rapidly advancing progress has brought this service within the means of private individuals, many of whom may simply be curious about the mysterious doings of the little machines that tick away in their innermost bodies. Fees can vary considerably, depending on the company, the desired analysis and any ancillary services, but a basic analysis with potentially useful information may be remarkably affordable.
Illumina offers what it calls “preventive care” full-genome sequencing for $7,500 to $9,500, depending on need; several other biotechnology companies charge similar fees for equivalent services. A less complete “exome” sequencing, which selects only those portions of an entire genome likely to be of clinical interest, can cost $1,000 and up. These companies likely will require multiple visits to a doctor for collection of tissue samples and subsequent discussion of the results.
For more budget-conscious consumers interested primarily in anticipating a range of common diseases, several companies provide more limited “genotyping” at much lower cost. The company will send you a kit; you will be asked to spit into a special container or to rub a swab on the inside of your cheek, then to return the tissue sample to the company in a prepaid envelope. Typically, the company will report back in six to eight weeks. One such company, 23andMe, charges $99 plus a mandatory year’s subscription at $9 per month. The increasing availability of inexpensive DNA chips is certain to greatly expand competitive offerings and sharply drive down costs.
Knowing that you’re at increased risk of developing Alzheimer’s disease, certain cancers or other frightening diseases linked to genetic flaws can be deeply unsettling. Some people prefer to preserve a fragile peace of mind by remaining ignorant of such possibilities. Refraining from biting deep into the bitter fruit of knowledge is a philosophical decision that individuals must make for themselves.
In any case, a compelling reason to wait on personal genome sequencing is crashing prices and rapidly improving analysis techniques. If there is no urgency, then waiting another two to three years may mean better accuracy and a more detailed analysis at less than half the previous cost.
As perturbing as it may be to suddenly find yourself grimly staring down fate, it can also be liberating. Instead of timidly waiting for the outrageous slings and arrows of seemingly random genetic fortune to spring from the shadows, actively confronting potential outcomes can give you a sense of control over your own life. You can draw up contingency plans for long-term care if the worst comes to the worst and otherwise refuse to be bullied by casual chance. You can keep abreast of developments in treating or forestalling a disease; you can take prophylactic medications likely to slow the progress of the disease if it develops, giving medical science time to race ahead of your impending death or disability. More prosaically, a genetic predisposition to less drastic conditions such as heart disease may be met with ameliorative medications, vigorous dietary changes and regular, health-saving exercise.
As heavyweights including IBM bring to bear intense development on a variety of emerging technologies, it is almost certain that the costs for whole-genome sequencing will continue to drop dramatically. Within a decade, hospitalizations or first visits to physicians’ offices for serious medical conditions might include routinely sequencing entire personal genomes for sophisticated analyses leading to customized medicines and treatments tailored to individual quirks. Large improvements in public health and reductions in suffering could result, and the cost savings from a significant decline in serious complications from adverse drug reactions could be enormous.