Nicholas Wade on $1K genome

Nicholas Wade has another piece on the $1000 genome.  Here are a couple snips, starting with an update on what a human genome costs, then and now:

"The first human genome decoding, completed by a public consortium of universities in 2003, cost more than $500 million. With the same technology, dependent on DNA sequencing machines made by Applied Biosystems, a human genome could probably now be decoded for $10 million to $15 million, experts say."

There seems to be a lot of fluctuation in the estimates of the price of the first human genome, typically ranging from $500M or $3B?  Can we nail this one down to within at least one order of magnitude?

David Bentley, Solexa’s chief scientist, takes an oddly conservative stance on personal genomics:

The demand for whole genome sequencing is a long way off, in Dr. Bentley’s view, but not so distant that it is too early to think about the consequences of generating such information. He advocates that two people should control access to a person’s genome sequence — the patient and the physician.

Why not the patient alone? Dr. Bentley said genomes would be so difficult to analyze correctly that interpretation should stay within the medical profession. Otherwise, freelance services will spring up, offering to predict whether a person will get heart disease or their age of death. This potential for misinformation “would have a huge adverse impact on the medical use of genetic information,” Dr. Bentley said.

What does it mean that genomic interpretation services should "stay within the medical profession"?  Does this mean that interpretation should be made by qualified genetics professionals?  In which case I agree.  If staying within the medical profession means making appointments, travel, waiting rooms, and all the rest, then forget it.  Why does the above paragraph pre-suppose that "freelance services" would be inferior?  Couldn’t these services be superior by employing trained genetic experts–of which there is real scarcity in the world, including in the medical profession?

Nicholas Wade. "The Quest for the $1,000 Human Genome" NYTimes, July 18, 2006.


4 Responses to “Nicholas Wade on $1K genome”

  1. jor on July 19th, 2006 2:51 pm

    Last part reads like a rant against med school :). I think it was meant more, should stay in the domain of some type of liscened professional. Doctors can already refer patients to others for genetic consults — usually those people aren’t medical doctors (I think they have a masters in something or the other). Similiar to referals to dietacians for people who need to be on a special diet.

  2. Jason Bobe on July 19th, 2006 8:09 pm

    Significant deficiencies do exist in the education and training of health care professional around genetics, which is really no secret and no surprise — its just an issue that will take time to work itself out. Fast forward to minute 53 of Atul Butte’s recent lecture. It seems 9 of 10 talks I see on genomics end in this fashion, this is all exciting but…there is a lack of training, education, etc.

    The National Coalition for Health Professional Education in Genetics (NCHPEG) is an example of one organization working to address the issue.

    Even with the best education and training, there are still very few genetic specialists. As you noted, physicians often refer patients out to board certified genetic specialists, known as genetic counselors. There are approximately 2200 of these in the United States. There are fewer board certified geneticists, approximately 1000 MDs and 500 PhDs.

    So, when I hear stay within the medical profession, my gut reaction is to wince a little I guess. The numbers don’t scale for an institutional setting. I imagine lots of people making appointments with their docs, then getting referred out to one of the few specialists, making another appointment, on and on — 6 months later they get the information they were seeking. There may be times this is the right thing for a person to do if they so choose, but there also must be alternative avenues to these services.

    I’m definitely not suggesting that a lack of specialists means we throw up our hands and fill the gaps with non-specialists. So keeping within the medical professional in terms of qualification and licensure, but also moving outside in terms of setting because institutional won’t scale. (Ten states have two or fewer board certified geneticists.)

    Looking back, I do agree with you that David Bentley’s concerns may be more about unqualified people stepping in to offer advice when they’re not qualified to do so. Heart disease is a funny example to choose to make this point though. I suspect the charlatans will be offering up much more imaginitive (and dubious) genetic advisory services in the realms of sex, intelligence, and success (all the same stuff in your spam filter).

    I hope this clarifies. My last paragraph does sound a little polemical, which may have detracted a bit from the point…

    One question for debate: Where do computers fit into the equation? Expert systems will be playing an increasingly important role in order to help us sift through our personal medical information. Are they inside or outside the medical profession? How are these lines drawn?

  3. Ron on July 20th, 2006 5:18 am

    I find it hard to imagine a world where patients don’t own their own genomic data so they can seek a second opinion when they don’t like the answer they get from their primary physician. I don’t see how the industry will put pandora back in the box. The Internet itself will be the expert system once the security and privacy issues are addressed many years into the future, hopefully in our lifetime.

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