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Bill Gates, Eric Lander, Maynard Olson, Leena Peltonen, and George Church fielded questions last night at a fascinating panel discussion on personal genomics at the University of Washington.

We were fortunate to be in the audience. I’ll share some of the questions and answers, in some cases shortened and paraphrased.


The room in Kane Hall at the UW was already warm when we arrived last night (yes, I do go to evening seminars). A student handed us cards and cute little pencils for writing our questions and we sat down. We fought the impulse to write “What’s the air speed velocity of a coconut-carrying swallow?” and instead tried to concentrate on good questions. Up on stage, Eric Lander walked back and forth, intently discussing something with one of the AV crew while the local luminaries from the genome science department casually strolled in.

Right.

Some days sequencing a genome does seem easier than getting your slides to work in a different auditorium.

The room filled up and the show finally began.

Beware the flood!!
Eric Lander started the night by bringing everyone up to speed on the state of genomics. I’m going to paraphrase his introduction here:

Eric pointed out that even after the region containing the cystic fibrosis gene had been found, it still took 5 years to clone and sequence it and figure out the most frequent mutation. Many biologists agreed that was too long a time and too much money.

The Human Genome Project changed all that. Biology has been industrialized.

Before the Human Genome project, only 70 simple Mendelian disease genes had been found, we know of 2600 genes that code for rare, unusual diseases.

But what about things that lots of people get? Multigenic disorders? How do we find those?

To find those, we need to look at genetic variation. We know now that there are about 12 million common variants in the entire population. We also know that many of these are found in blocks and we’ve mapped many of them through the HapMap project.
By looking at genetic variation we’ve been able to find more genetic information about common diseases. We can use microarrays and new sequencing technologies to look at lots of information and do genome wide studies where we see how often certain genetic changes appear and whether or not their presence is tied to disease, and the rate of the discovery is increasing rapidly.

In 2001, we found 1. This was the same for 2002 and 2004. In 2005 found 5 associations. In 2006 we found 8 (I think). And, in 2007, we found 160 associations between genetic variants and common diseases. The rate of discovery is phenomenal.

He said the key lessons from these studies were:

  • Need large samples, 1000′s of samples and stringent thresholds for reproducible results
  • Only looked at some types of variants for certain diseases
  • Many variants only increase risk by small effects 10-30% higher
  • These genes are important for understanding the biology of the disease
  • The genes have small implications for risk prediction -
  • Beware the flood!!
  • Watch out for small dubious studies

And he pointed out that it seems easier to sequence a human genome than it is to get legislation to protect people from having their genetic information against them. [Congress votes on GINA today, it will be interesting to see what happens.]

Questions from the audience

Naturally, the panelists were asked if they had had their genomes sequenced. Only George Church answered yes. It was interesting though, even though Leena Peltonen and Eric Lander said that they weren’t interested in having this done, both of them said they had been tested for certain genetic diseases, Eric, for Tay Sachs, and Leena for 40 diseases common in Finns. Bill Gates said that if the top 20 infectious diseases were to be cured, he would be happy to have his genome sequenced and make it public.

If you could test 1000 genetic traits, what boxes would you check?
Bill Gates said the most important box would be to avoid being born in a poor country.

Should people be given information about genes that are related to diseases if there’s nothing that can be done?
Eric Lander: People should have the information if they want it. Our greatest challenge is to provide them the education to make an informed choice.

George Church: You can always do something. Lorenzo’s oil is a movie about taking action. It shows what people can do.

The idea of education returned later in the talk. George Church suggested that the personal genomics companies may be the most effective at education, since they get people directly involved with their genomes.

What are options for the personal genome to benefit third world populations?
Bill – whenever you divert $1000 away from spending on poor, you lose lives, but if you define the genome as making information free for scientists to gather and use, then the benefit could be much greater.

How will personal genomics affect privacy?
George: We can’t be complacent, but we can’t be overconfident. There may be people who voluntarily decide to give up some of their privacy.
Maynard – if we set the bar for informed consent too high, we will only sequence the genomes of geneticists.
George – Two genomes have been sequenced from Africans and one Chinese person.
Bill: Are relatives asked to sign informed consent forms?
George – they did exclude some people because of relatives.

Then, Eric Lander playfully asked the other panelists if they thought presidential candidates disclose their genomes. He reminded us that we had a president with Alzheimer’s disease and we would have found that potential if we had tested him. In the future, will we ask the older candidates to get tested for Alzheimer’s?

Are we going to make designer babies?
All the panelists agreed this would be too risky, even though they could imagine people wanting better options for their children.

George Church pointed out that people can be proactive now and use preimplantation diagnosis and in vitro fertilization to prevent having children with some kinds of serious genetic diseases. Eric and Maynard countered that they felt it likely that sex would remain the most popular method for creating babies.

There were more questions and answers last night than I was able to capture. Let the conversation continue.

Comments

  1. #1 Blaine
    April 24, 2008

    Great post, thank you for noting and sharing some of this discussion with us. Seems like it was very interesting.

    There are very few of these types of seminars/panels in Upstate New York, so it’s great to learn more about them from afar!

  2. #2 Sigmund
    April 24, 2008

    Eric Lander gave his talk about current genome analysis about two weeks ago here in Stockholm and it was indeed impressive to hear of the progress being made. I’m pondering getting my SNPs done but wonder whether it might be worthwhile waiting a couple of years and then getting the full sequence done instead. I’m a genomics geek so I could spend hours at a time just going through the sequence, like a book. So long as a medical insurance company can’t do the same, it sounds fine to me.

  3. #3 Neuro-conservative
    April 25, 2008

    Sounds like Bill Gates is almost anti-genetics. Am I reading that right?

  4. #4 Sandra Porter
    April 25, 2008

    Bill Gates, anti-genetics? Oh no, far from it. He just isn’t interested in having his genome sequenced.

    He mentioned often that he thought genome sequences were an important key to learning how to cure disease.

  5. #5 Beyond Lab
    April 25, 2008

    Nice post. Quite interesting to read. I wish there were some video somewhere.

    To Sigmund, it may be a good idea to wait for several years.

  6. #7 Lee Watkins
    April 25, 2008

    I have to admit that this is the first time I ever read anything quoting Bill Gates where I felt an upwelling of admiration. Really, when he says things like “if the top 20 infectious diseases were to be cured, he would be happy to have his genome sequenced and make it public” and “if you define the genome as making information free for scientists to gather and use, then the benefit could be much greater,” I wonder can this possibly be the same world-dominating megalomaniac (and opponent of open-source anything) that we love to hate??

  7. #8 JSinger
    April 30, 2008

    I have to admit that this is the first time I ever read anything quoting Bill Gates where I felt an upwelling of admiration…I wonder can this possibly be the same world-dominating megalomaniac (and opponent of open-source anything) that we love to hate??

    Lee, my colleagues are able to develop drugs for tropical diseases because Bill Gates is able and willing to pony up the millions of dollars for clinical trials for which there’s no profitable business model. If you want to kick in a few million instead of loving to hate, we’ll get there that much faster.

  8. #9 TomJoe
    May 2, 2008

    George Church pointed out that people can be proactive now and use preimplantation diagnosis and in vitro fertilization to prevent having children with some kinds of serious genetic diseases.

    I wonder what he means by “serious genetic disease”, and how will that be enforceable? This is eugenics, plain and simple, and carries with it huge ethical implications. As an example: perhaps China will use this and consider gender to be a genetic impairment … and their male to female ration becomes even worse.

  9. #10 Lisel Koepl
    May 19, 2008

    A “serious genetic disease” is usually characterized as a severe disease without an effective treatment available and an early age-of-onset. However, it does seem like this definition is subject to change if we continue to allow industries to regulate genetic and reproductive technologies like preimplantation genetic diagnosis (PGD). As a “gateway technology” that could give rise to new eugenics implications for society, PGD should require regulatory oversight through the establishment of ethical guidelines and US policies for responsible regulation. We can learn from countries like the UK which already have a review process in place for determining future applications of PGD technology.

    Here in the US we have already departed from medical-based uses for PGD with sex selection for non-medical purposes such as family balancing. Although PGD gender selection seems to be roughly even in the US, countries with strong cultural preferences such as China and India would likely suffer major sex ratio imbalances if this technology were implemented without any regulations put in place.

    To develop policies for PGD use, more public discussion and stakeholder engagement is needed before we can start to build consensus around a set of national regulations.

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