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What would happen if genetic and medical records were freely available to anyone who wanted them?
George Church, a geneticist at Harvard Medical School in Boston, was one of the pioneers in the Human Genome Project. Now he's hatching a new genomic enterprise -- the Personal Genome Project (PGP). Church and collaborators plan to build a database that will integrate individual genomes, medical histories, and other information about each project participant, enabling scientists to do more comprehensive genetic research -- and help advance the field of personalized medicine.
While true personalized medicine is still just a goal -- scientists need to develop cheaper, faster sequencing technologies before individual genome sequences even become widely available -- Church hopes the project will help create that future.
And by using real medical and genomic data from specific people, the project could also create test cases for the legal and ethical issues surrounding the availability of personal and genomic records. This would give ethicists, legislators, and scientists concrete examples to study.
Technology Review: What is the Personal Genome Project?
George Church: This is a way of making personal genomics accessible for research. Some well-informed candidates will give full permission for a highly integrated set of medical resources [such as medical records] to be made publicly available.
TR: How is this different from the human genome project?
GC: The human genome was about the DNA of a single, anonymous person. The PGP is about the whole person, including their genomic information. It's hard to do genetics with just genes. You need to connect facts about the person with the facts about DNA. You can think of it as the next step of the project.
TR: What information do you plan to collect?
GC: Conventional electronic medical records, the usual 'omics, including RNA, proteomes, and metabolite measures, as well as imaging data, such as magnetic resonance imaging. This will give a rich phenotype, the same type of information you might want for any model organism.
TR: You have said that you hope this project will spur new technologies, biological research, and ethical guidelines. Can you elaborate?
GC: The technological goal is cheaper, faster sequencing. The biological goal is to provide a shared set of resources that academics and companies can use to do later medical analysis. The social aspect is to try to be proactive in dealing with one of the biggest problems with genomic medical research -- the anonymity [of genomic data].
TR: How will the PGP spur new technologies, such as sequencing?
GC: Sequencing costs are already being brought down rapidly by alternatives to conventional sequencing. We want to get the cost of sequencing down to the point where many people can afford it, or at least break even in terms of possible medical advantages.
These technologies will also spur the PGP, and the PGP will allow technology to be applied to an interesting human sample. The PGP will provide DNA and other resources freely to anyone who wants them, such as companies developing high-throughput sequencing. And then PGP will get back the data to add to the database.
Guest (Steve)
If it is part of your medical record, any cop any time can just waltz in and ask for a copy.
This needs to be personally controllable.
There needs to be severe punishments for researcher that lose control of the data.
Guest (Aaron Brill)
Very important. Good approach. Good luck. Vanderbilt is launching a DNA database project with anonymyzation and linking to medical records within the institution. It will be interesting to see how different approaches merge.
Guest (Owen N. Martinez-Sandin)
Possible volunteers: Me and who else?
I am fully health-insured through Medicare and Humana. Being comparatively healthy, although 77, there are no difficulties in having my genome become public, if it con contribute to humanity.
There may be a large number of others, similarly available. Let us know how we can help. Sincerely, Owen
Re: Possible volunteers: Me and who else?
My only change is that I am enrolled in Blue Cross / Blue Shield. I was treated for prostate cancer in 1995 and have seen no sign of its return. I have made my phone number available nationwide through medical patient publications as a reference for patients diagnosed with prostate cancer as a patient advocate. I can be reached at 703-280-5765 and would look forward to being selected to participate in the personal genome project as a volunteer. Howard Bubel
Guest (Pete)
Dr. Church's recent paper (Science. 2005 309:1728-32)is a technical coup de grace. But a personal human genome sequence based solely on this technology will most likely not be sufficiently accurate. In light of recent studies showing very high frequencies of copy number length polymorphisms (see Jan. '06 Nat Genet.) that will confound the sequencing and fundamental genome assembly and annotation errors (Cytogenet Genome Res. 2006;112:1-5), any attempt to directly relate the sequence(s) from an individual to their pathogenicity would be medically irresponsible. A combination of technologies will be needed.
Guest (George Gallman )
I have a number of health related problems that make it difficult for me to find reasonably priced insurance. One problem is height. I much too short for my weight. It seems if a person is already on the short end of the insurance program it may well be of an advantage to find some positive markers that may indicate that they are a better risk than current screening tools. Furthermore, some indicators may allow early treatment of problems that could increase life expectancy and decrease cost of treatment if such treatment were delayed, thereby increasing insure-ability.
I am willing to be one early ones.
Http://www.ggallman.com
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Guest (Chris Miller)
Insurance discrimination
Why is insurance discrimination such a big deal? If I sell insurance, I want to identify the good risks and avoid the poor ones (or offer them an increased rate to cover the increased risk). At present, health or life insurers ask prospects about the health of their parents - this is a (crude) form of genetic 'discrimination'. If genetic information is available to the insured but not the insurer, there's a danger that all the poor risks will rush to take out life or health insurance and companies will be forced to increase their rates accordingly.
Reply
Guest (Steve)
RE:Insurance Discrimmination
So, if I tell the agent that I
am adopted, I may get a better
rate than if I own up to having
cancerous parents?
Can I just disown and disavow any
knowledge of my parents for the
discount?
Reply
Guest (Chris Miller)
RE: Insurance discrimination
You can fib as much as you wish - but the insurer may decide not to pay a claim if they can prove that you were fibbing!
Reply
Sandman157
1 Comment
Re: RE: Insurance discrimination
I don't think you guys get it - the insurance company isn't going to ask you any questions, except maybe "Roght or left arm?" as they sample your blood. It doesn't matter how many fibs you tell - if you have the gene, then you have it. Now, what actions they can take on the basis of this knowledge - that's what the debate is about. But the point that defeective persons will quickly take out insurance is well made. Women who had themselves tested for breast cancer risk genes and got a positive result (i.e. - they had the cancer gene) were very likely to go quickly and take out large life insurance policies - from companies who were not informed of the recent test results. It may sound like a little guy getting the jump on a big corporation, but it will bring down the whole apple cart if it's allowed to continue.
Sandman
Reply
Guest (Pete)
Personal Genome Project
Dr. Church's recent paper (Science. 2005 309:1728-32)is a technical coup de grace. But a personal human genome sequence based solely on this technology will most likely not be sufficiently accurate. In light of recent studies showing very high frequencies of copy number length polymorphisms (see Jan. '06 Nat Genet.) that will confound the sequencing and fundamental genome assembly and annotation errors (Cytogenet Genome Res. 2006;112:1-5), any attempt to directly relate the sequence(s) from an individual to their pathogenicity would be medically irresponsible. A combination of technologies will be needed.
Reply