Leroy Hood on the Future

Leroy Hood, tireless generator of good quotes (among other things):

My prediction is that within 10 years, we will have a predictive medicine that will have two separate components.

No. 1, it will have the ability to sequence every human’s genome for
less than $1,000. We will be able to make predictive health histories for each individual from the varying genes that come from that

Perhaps a better term than predictive health histories is
health futures.  Is it me, or does having health sandwiched between predictive and history feel claustrophobic?

No. 2, we will have a little hand-held nanotechnology device that
will prick your finger and make a thousand measurements and by
wireless, send that to a server. It will analyze all your past records.

It will say, "Nothing’s changed. You’re fine. Do it again in six
months." Or it will say, "Go see your oncologist or go see your
rheumatologist" or whoever might be appropriate.  Your physician would get an e-mail, too.

There’s more from Leroy:

Take into account that your genome and mine differ by 6 million

We have to treat you differently than we treat me and everybody
else. How we create an era of highly personalized medicine will depend
entirely on new diagnostic, therapeutic and ultimately, these
preventive techniques.

What we’ll do is feed your genome sequence into a grid network of
computers that will do many different kinds of analyses simultaneously.
You’ll get a summary sheet that says here are the things and here are
the probabilities that you’ll likely have to worry about in the future…

Oh yeah, and this is good too..

It takes five years for people to get anything. The first few times
they hear it, they can think of a thousand reasons why it’s wrong.
Then, after they’ve heard it a few more times, it starts to sound more

If you’re a missionary, you’ve got to be patient with your
congregation. We are at the very beginning stages of thinking about

Read the whole piece in the SeattlePI.

Event: Future of PHI Liquidity

How do we improve personal health information liquidity?  An upcoming event hosted by Esther Dyson will explore this and related topics.

PHI liquidity is a good term, in the conference description it is defined as:

"the ability of that information to move around, relatively friction-free, to where it is most useful and relevant"

A really exciting topic.  Much of medical progress depends on our ability to aggregate and plumb health information.  The possibilities that are available when this information is all hooked together becomes really interesting…and not just for scientists, epidemiologists, drug-makers, physicians, (oh yeah and insurers), but also for regular information consumers.

We’ve got access to general population level statistics now, much of it is irrelevant, outdated, or just impossible to use.  Information is always more interesting when it is about you.  This remains true at a population level too.  Imagine being able to view real-time, population-level health information filtered by your personal health record, including such things as age, pharamaceutical regimen, location, genotype, medical history, family history, weight, diet, etc. 

How do ensure privacy is maintained?  How do ensure people have an incentive to share their information (other than not giving them a choice)?

Genetic Screening and Life Insurance

Quest Diagnostics recently acquired LabOne, which puts them in the position to get involved in genetic screening of life insurance applicants.  A recent quote from the CFO of Quest (via Medscape):

"Gene-based testing allows you to do predisposition testing, and I don’t know that there’s a lot of that done today on the life insurance side, but certainly that’s an opportunity as we go forward because it gives you a better profile of the individual’s risk," said company Chief Financial Officer Robert Hagemann.

What does this mean for life insurance and those seeking it?  I don’t have the answers to this question at the moment, but the best source of information that I’m aware of on this subject is a recent book edited by Mark Rothstein (who also edited a collection of papers on genetics and privacy).

Mark Rothstein (editor). Genetics and Life Insurance : Medical Underwriting and Social Policy. MIT Press, 2004.

PLOS Genetics: Volume 1, Issue 1

The library of open-access PLoS journals is growing.  The inaugural issue of PLoS Genetics is now online

For more on Open Access, see Peter Suber’s extensive blog.  Another good open access resource is the Open Access Webliography

NHGRI Issues $32 million in grants toward personal genomics

Today the National Human Genome Research Institute (NHGRI) awarded $32 million toward innovative genome sequencing technologies that promise to bring down the cost of a human genome sequence to $1000.  In October of last year, the NHGRI awarded $40 million in grants for sequencing innovations that promise to bring down the cost of a human genome to $100,000 in the near-term. 

Cost Comparison for 1 Human Genome

Nicholas Wade from the NYT chimes in on the cost of genome sequencing…

A price tag of even $20,000 or so, which now seems attainable in the
next few years, would bring whole genome sequencing within the same
range as other medical procedures…

The first human genome to be completed, by the Human Genome Project in
2003, probably cost about $800 million. Doing a second human genome by
the traditional methods would now cost around $20 million. The two new
methods promise to be much cheaper. Dr. Rothberg says a human genome
could be resequenced now by his method for $1 million. Dr. Church
estimates that he can do a human genome for $2 million now and for
$20,000 in the future.

The two methods differ significantly in the price of equipment.

The DNA sequencing machine now being sold by 454 Life Sciences costs
$500,000. Jonathan M. Rothberg, chairman of the board, says a single
machine does the job of a $50 million sequencing center.

The Harvard machine is even cheaper…The most expensive element is a $140,000, computer-controlled digital
microscope…For labs that already possess such a
microscope, as many do, the equipment costs would be small. All they
need do is follow the free recipe provided by Dr. Church.

Nicholas Wade, 2 New Methods to Sequence DNA Promise Vastly Lower Costs, NYTimes, August 9, 2005.

Consumers: Cost of Health Care?

Medical consumerism fact of the day:

While consumers can guess the price of a new Honda Accord within $300,
those surveyed were off by $8,100 in their price estimations for a
four-day hospital stay.

Just exactly how much does it cost for a day in the hospital?

Read more

$2 million per human genome

Not to be outdone by the recent article published in Nature by scientists at 454 Life Sciences, the polony folks at Harvard toss the following salvo:

The theoretical price of having one’s personal genome sequenced just
fell from the prohibitive $20 million dollars to about $2.2 million,
and the goal is to reduce the amount further–to about $1,000–to make individualized prevention and treatment realistic.

The sharp drop is due to a new DNA sequencing technology developed
by Harvard Medical School (HMS) researchers Jay Shendure, Gregory
Porreca, George Church, and their colleagues, reported on August 4 in
the online edition of Science. The team sequenced the E. coli
bacterial genome at a fraction of the cost of conventional sequencing
using off-the-shelf instruments and chemical reagents. Their technology
appears to be even more accurate and less costly than a commercial DNA
decoding technology reported earlier this week.

Press Release. "A step toward the $1,000 personal genome using readily available lab equipment." EurekaAlert. Aug 4, 2005.

Shendure et al., Accurate Multiplex Polony Sequencing of an Evolved Bacterial Genome,  Science 2005

George Church’s site

FYI: The best discussion of sequencing costs that I am aware is a 2004 paper by Shendure and friends:

Shendure J, Mitra R, Varma C, Church GM (2004) Advanced Sequencing Technologies: Methods and Goals. Nature Reviews of Genetics May;5(5):335-44.


454 Life Sciences: Record Setting 6.25 MPH (Million bases Per Hour)

The proliferation of large-scale DNA-sequencing projects in recent years has driven a search for alternative methods to reduce time and cost. Here we describe a scalable, highly parallel sequencing system with raw throughput significantly greater than that of state-of-the-art capillary electrophoresis instruments. The apparatus uses a novel fibre-optic slide of individual wells and is able to sequence 25 million bases, at 99% or better accuracy, in one four-hour runan approximately 100-fold increase in throughput over current Sanger sequencing technology

This from the paper’s abstract.

Marcel Margulies et al. "Genome sequencing in microfabricated high-density picolitre reactors" Nature (online). July 31 2005. (subscription only)

Nick Wade. "DNA machine may advance genetic sequencing for patients" NYTimes. August 1, 2005.

Kevin Davies, "Fantastic 454" Bio-IT World. August 1, 2005.