Thursday, March 01, 2001

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British Medical Journal Safeguards for research using large scale DNA collections
"Declining confidence in the governance of clinical practice has serious implications for medical research. Recent studies looking at public opposition to genetically modified foods and the social psychology of risk have shown that the level of trust in the institutions governing a particular activity is the key factor affecting public perceptions of risk in that area.2 The loss of confidence in the Ministry of Agriculture, Fisheries, and Food and the agencies responsible for food safety following the uproar over bovine spongiform encephalopathy laid the foundation for widespread public scepticism about the safety of genetically modified foods. If there continues to be erosion of trust in the medical profession there is a real danger that controversial areas of research, such as genetics, will provoke increasing levels of public opposition. It is in this context that the proposals for the creation of a very large collection of DNA samples for genetic research should be examined."

British Medical Journal Safeguards for research using large scale DNA collections
"Current and emerging technologies will allow rapid identification of mutations causing well described single gene disorders, single nucleotide polymorphism profiling, and genomic sequencing. These powerful technologies may enable the identification of predispositions to common, multifactorial disorders and predict individuals' responses to conventional therapeutic interventions. On the basis of discussions with general practitioners and practice nurses, and the findings of a recent informal survey among general practitioners in South Wales about attitudes and knowledge of genetics (unpublished data), I think that few professionals in primary care would be confident in explaining the nature of these techniques and the importance and implications of the data that would be generated. This would seriously limit the ability of professionals in primary care to obtain informed consent and answer questions that arise over the years of the study. The long term nature of the proposals reinforces the view that education and training in genetics, and particularly in the basic science that underpins the subject, are a priority for medical, nursing, and associated professions at the basic, specialist, and continuing education stages. The success of the proposed study and future population genetic studies are dependent on this educational need being immediately and effectively addressed."

redux [02.17.01]
The Scientist Gene Pool Expeditions
[requires 'free' registration]
"A good gene pool, like love, is where you find it. Now genomics researchers have two new ones to swoon over: one from Estonia, a crossroads of Scandinavian cultures and the northernmost of the former Soviet Union's Baltic republics; and from Tonga, an island kingdom half a world away where a Polynesian people has lived in near-perfect isolation for close to 3,500 years. Tonga and Estonia laid final plans last November and December, respectively, for national gene pool exploration programs aimed at discovering disease-associated genes and developing therapies based on the discoveries.

They follow the trail blazed by Iceland,1 where for several years the gene pool of 275,000 Icelanders has been the fishing preserve of Reykjavik-based deCODE Genetics which is hunting for gene variants that affect serious, often chronic diseases by finding statistical links between Icelanders' genotypes and their inherited illnesses."

redux [06.15.00]
New England Journal Of Medicine Rules for Research on Human Genetic Variation -- Lessons from Iceland
"DNA molecules are entirely separate from medical records. In the future, however, the DNA molecule and the medical record are likely to merge into one when it becomes possible to sequence a person's entire genome and put that information on a computer chip or disk. This is not deCODE's current project, but we should not wait until this step is taken to explore its implications. The most important questions would then be who has the authority to make such a disk in the first place; who owns the disk; who controls the use of the disk; and whether the disk containing the genome should be treated as specially protected medical information, as is the case for psychiatric and drug-dependency records? In clinical settings, it seems reasonable to treat such a disk as containing particularly private and sensitive medical information. It also seems reasonable to permit patients to agree to have their entire genome scanned without detailing the tens of thousands of tests that would be run. This is akin to consent to a battery of tests during an annual physical examination.

On the other hand, in a research setting, or when a specific genetic disorder is suspected, the creation and use of an individual patient's genome disk should be subject to the informed consent of the patient. And since they can be both separated from the medical record and readily recreated, research subjects should retain the right to have the files containing their genetic information destroyed at any time.

Iceland's experience with deCODE provides a useful catalyst for formulating fair and ethical rules for research on genetic variation. The Icelandic experience demonstrates that people are concerned about how genetic research is done, that medical-records research and DNA-based research are not the same, that community consultation is necessary but not sufficient to justify DNA-based research ethically, that the probable benefits of such research should be spelled out as clearly as possible, and that international standards for consent to and withdrawal from research should apply directly to research on human genetic variation. Rules for such research will retain their relevance even after it becomes possible to transfer all the genetic-sequence information in a DNA molecule to a computer disk."

redux [02.13.00]
The Daily Davos Beyond the Genome
"By the spring of this year, the first draft of the human genome -- the sequence of all the genetic instructions needed to make up a human being -- will be published on the Web. But that is only the end of the beginning. Scientists still have very little idea of what most of the 100,000 or so human genes actually do, and finding out will take them into a very different area of research.

The raw material of the genome program has been anonymous samples of DNA, manipulated by complex laboratory machines that turn out information like a production line turns out widgets. But the new era of post-genome research involves analysing real people and their confidential medical records. The records are needed to match the genes that people carry with the diseases they may develop. Only then will gigabytes of genetic data into new treatments for cancer or heart disease. And that is why socialised healthcare is a vital part of post-genome research.

Countries such as the U.S., which provide healthcare through private enterprise, are useless for this sort of genetic inquiry. Only those countries which have organized the delivery of healthcare to their population in a way that is independent of the marketplace have built up the universal medical records necessary to make sense of the patterns of disease."