PGP original volunteer + Harvard Med. School CIO has CMT

[Guest guest]

The Personal Genome Project Has a Growth Spurt

13,000 people will divulge their genetic and medical histories online.

Monday, May 18, 2009 By Singer

http://www.technologyreview.com/blog/editors/23546/

The ten intrepid volunteers who signed up for Church's personal genome

project (PGP), will soon have a lot of company. According to a report from

Northwestern University, 13,000 people are in the process of enrolling in the

project, which involves having the coding region of your genome sequenced, and

then sharing it, along with medical records and other information, in an

open-access database for analysis by geneticists and others around the world.

Here's a brief description of the project from a piece I wrote last October.

Headed by Harvard University genomics pioneer Church, the project aims to

capitalize on rapid improvements in gene-sequencing technologies to better

understand human health and disease. The PGP will serve as both a technological

and an ethical test bed, assessing new methods of reading, sorting, and

analyzing DNA, and highlighting societal issues that could spring up in the era

of personal genomics--most notably, the privacy of genetic information.

Over the past year, the first 10 volunteers, including the linguist

Pinker, the entrepreneur Esther Dyson, and Church himself, have surrendered

blood and skin samples, subjected themselves to medical examinations, and filled

out extensive personal and medical questionnaires. Scientists have since gone to

work sequencing their DNA, and an initial analysis of a portion of their genomes

will be released today.

The data will be deposited into a database that Church and his collaborators

hope will serve as a public resource for personal-genomics research, allowing

other scientists to search for specific genetic variations linked to diseases

and other traits. The researchers aim to grow the database rapidly and are now

enrolling the next wave of volunteers, possibly as many as 100,000 participants.

They are also creating cell lines from participants' tissue samples, which they

will make available for research.

Volunteers have to pass an online test to make sure they understand exactly what

participation entails--such as finding out you are at risk for a genetic

disease.

For more on the PGP, check out a feature I wrote earlier this year on the

challenges of interpreting the huge amount of genomic information made possible

by new sequencing technologies.

The first set of data--released to participants in October--hints at both the

promise of sequencing and the current limitations of genetic analysis.

Halamka, CIO of Harvard Medical School and another one of the 10 original

volunteers, learned that he carries a mutation for Charcot Marie-Tooth disease,

an inherited neurological disorder. This rare variation would not have been

found with existing SNP arrays. But since Halamka survived childhood unscathed,

and only three other people in the world have been shown to carry that

particular mutation, it's hard to know what impact, if any, it has had on his

health. Perhaps many people carry the variation with no ill effect, and the link

between the disease and the mutation has been overstated. Or perhaps the gene

has a broader impact than expected, raising the risk of other neurological

diseases. (Or, as Church notes, the finding may simply be an error.)

The greater the number of entries in the database, the easier it will be to

understand a finding like Halamka's. And in April 2008, Church's team received

approval from Harvard to expand the project from 10 to 100,000 participants.

(Church plans to scale up slowly, multiplying the number of subjects by 10 each

year.) This next phase will seriously test both the technology used to sequence

the genomes and the strategies used to interpret the resulting data. As of

November, about a year into the project, PGP scientists had gotten only about a

fifth of the way through sequencing the coding regions of the original

volunteers' genomes. (Church plans to expand the PGP to the entire genome once

sequencing becomes cheap enough.) If they're to sequence thousands more genomes,

sequencing technology will need to become as fast and robust as Church believes

it can be.

[Guest guest]

Has anyone here volunteered for this yet?

>

> The Personal Genome Project Has a Growth Spurt

>

> 13,000 people will divulge their genetic and medical histories online.

>

> Monday, May 18, 2009 By Singer

>

> http://www.technologyreview.com/blog/editors/23546/

>

> The ten intrepid volunteers who signed up for Church's personal genome

project (PGP), will soon have a lot of company. According to a report from

Northwestern University, 13,000 people are in the process of enrolling in the

project, which involves having the coding region of your genome sequenced, and

then sharing it, along with medical records and other information, in an

open-access database for analysis by geneticists and others around the world.

>

> Here's a brief description of the project from a piece I wrote last October.

>

> Headed by Harvard University genomics pioneer Church, the project aims

to capitalize on rapid improvements in gene-sequencing technologies to better

understand human health and disease. The PGP will serve as both a technological

and an ethical test bed, assessing new methods of reading, sorting, and

analyzing DNA, and highlighting societal issues that could spring up in the era

of personal genomics--most notably, the privacy of genetic information.

>

> Over the past year, the first 10 volunteers, including the linguist

Pinker, the entrepreneur Esther Dyson, and Church himself, have surrendered

blood and skin samples, subjected themselves to medical examinations, and filled

out extensive personal and medical questionnaires. Scientists have since gone to

work sequencing their DNA, and an initial analysis of a portion of their genomes

will be released today.

>

> The data will be deposited into a database that Church and his collaborators

hope will serve as a public resource for personal-genomics research, allowing

other scientists to search for specific genetic variations linked to diseases

and other traits. The researchers aim to grow the database rapidly and are now

enrolling the next wave of volunteers, possibly as many as 100,000 participants.

They are also creating cell lines from participants' tissue samples, which they

will make available for research.

>

> Volunteers have to pass an online test to make sure they understand exactly

what participation entails--such as finding out you are at risk for a genetic

disease.

>

> For more on the PGP, check out a feature I wrote earlier this year on the

challenges of interpreting the huge amount of genomic information made possible

by new sequencing technologies.

>

> The first set of data--released to participants in October--hints at both the

promise of sequencing and the current limitations of genetic analysis.

Halamka, CIO of Harvard Medical School and another one of the 10 original

volunteers, learned that he carries a mutation for Charcot Marie-Tooth disease,

an inherited neurological disorder. This rare variation would not have been

found with existing SNP arrays. But since Halamka survived childhood unscathed,

and only three other people in the world have been shown to carry that

particular mutation, it's hard to know what impact, if any, it has had on his

health. Perhaps many people carry the variation with no ill effect, and the link

between the disease and the mutation has been overstated. Or perhaps the gene

has a broader impact than expected, raising the risk of other neurological

diseases. (Or, as Church notes, the finding may simply be an error.)

>

> The greater the number of entries in the database, the easier it will be to

understand a finding like Halamka's. And in April 2008, Church's team received

approval from Harvard to expand the project from 10 to 100,000 participants.

(Church plans to scale up slowly, multiplying the number of subjects by 10 each

year.) This next phase will seriously test both the technology used to sequence

the genomes and the strategies used to interpret the resulting data. As of

November, about a year into the project, PGP scientists had gotten only about a

fifth of the way through sequencing the coding regions of the original

volunteers' genomes. (Church plans to expand the PGP to the entire genome once

sequencing becomes cheap enough.) If they're to sequence thousands more genomes,

sequencing technology will need to become as fast and robust as Church believes

it can be.

>