New advances in personal genomics

Image representing 23andMe as depicted in Crun...

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There has been some interesting advances in personal genomics recently which is great news, but will the rise of cheap personal genome scanning result in improvement in our health?

Price is one limiting factor for lack of adoption of personal genome scanning and its potential to lead to better health treatments (pharmagenomics). Just a few months ago the standard price for the current generation of a personal genome scan (examining 500,000 to a 1,000,000 SNPs) was $ 999, but now one of the companies 23andMe has dropped their price to $ 399. This price range makes the technology available to a larger audience (but like any consumer electronic device if you can hold off another 6 months to a year things will even be cheaper – or you will get more for the same price). This story was covered by PIMM and thinkgene.

What is also interesting is Sergey Brin (co-founder of Google) has started his own blog and discusses his personal genomic scan results (his wife is the co-founder of 23andMe) (further covered by thinkgene,

Additionally, there are reports of further potential advances in the speed and price of DNA scanning. Pacific Biosciences is suggesting that they will be able to read the entire human genome in 15 minutes at the doctor’s office (see story here, thank BZ for the tip). Video of the technology (will be of interest to the molecular biologist reading this).

So either now, or in the near future more and more of us will have access, and own (hopefully), the data of their personal genome. With this we are promised as a society great advances in coming up with new treatments for various diseases and also the personalization of treatment (pharmagenomics). However, there are people such as Dr. David Goldstein who in this NY times piece argues things are not that simple (additional coverage by thinkgene). Dr. Goldstein says:

“There is absolutely no question,” he said, “that for the whole hope of personalized medicine, the news has been just about as bleak as it could be.”…“After doing comprehensive studies for common diseases, we can explain only a few percent of the genetic component of most of these traits,” he said. “For schizophrenia and bipolar disorder, we get almost nothing; for Type 2 diabetes, 20 variants, but they explain only 2 to 3 percent of familial clustering, and so on.”

The reason he gives for the failure of these large genome scans to find useful gene variants to account for various diseases is:

that natural selection has been far more efficient than many researchers expected at screening out disease-causing variants. The common disease/common variant idea is largely wrong. What has happened is that a multitude of rare variants lie at the root of most common diseases, being rigorously pruned away as soon as any starts to become widespread.

Then he goes on to talk about his own disbelief in the lack of results that researchers have come up with so far.

It takes large, expensive trials with hundreds of patients in different countries to find even common variants behind a disease. Rare variants lie beyond present reach. “It’s an astounding thing,” Dr. Goldstein said, “that we have cracked open the human genome and can look at the entire complement of common genetic variants, and what do we find? Almost nothing. That is absolutely beyond belief.

He adds:

If rare variants account for most of the genetic burden of disease, then the idea of decoding everyone’s genome to see to what diseases they are vulnerable to will not work, at least not in the form envisaged.

Of course his fellow scientist disagree with him (that personal genomics will lead to great advances in the treatment of diseases) — and we will have to wait and see which two competeing thoughts are closer to the truth.

What do you think?

2 comments for “New advances in personal genomics

  1. Jigen
    October 3, 2008 at 6:40 pm

    Interesting. Do you know if the scientists that disagree with Dr. Goldstein may have some ties to some of these sequencing companies?

  2. Ward
    October 4, 2008 at 11:25 am


    thanks for the comment. Sure it is possible some of the scientist that disagree with Dr. Goldstein might have commercial ties, but I also think that many scientist without ties would also disagree. One personal genomics is one of the next great hope in health care, but also there is usually two sides to a story. I guess we will find out which ones is the closest to the truth.