Discovering Biology in a Digital World : The Personal Genome discussion

| April 25, 2008

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

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 2007 found 5 associations. In 2007 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.


Category: Genetics

Comments are closed.