Archive for February, 2008

Home DNA tests on the up, ’safer’ clinic DNA tests on the down

 

It is universally accepted that genetic testing is here to stay and will play a major role in health management.  Common sense dictates that it is good health management to understand what diseases an individual is susceptible to, so that steps can be taken, by that individual, if they so wish, to minimize the chance of developing a particular disease or diseases.  Genetic testing, although in its infancy, will eventually be robust enough to provide those answers.

DNA testing best practice requires test results to be clearly explained to patients by a suitably qualified specialist, more often than not a genetic counselor.  If a patient is at risk of a particular disease then best practice dictates that the individual should be offered a health screening program to detect any abnormalities early…. early detection improves survival.

A recent survey by The National Human Genome Research Institute observed that the number of Americans taking advantage of precautionary DNA testing appears to be going down, and the reason is thought to be fear of genetic discrimination from health insurers and employers.

Some health experts are so concerned that they have called for new legislation to protect US citizens from being discriminated against should their DNA test reveal health risks.

A bill which was passed by the House of Representatives last year and is yet to reach the Senate, the Genetic Information Nondiscrimination Act, would prohibit insurers from denying benefits or raising premiums as a results of genetic information, and it would prohibit employers from collecting or making use of genetic information for hiring, firing or compensation decisions.

Another trend that could be fuelling this concern is the rising use of home test kits for DNA. You send a DNA sample to a private service that sends the results directly to you, without your doctor or anyone else knowing about it.

There are advantages and disadvantages to this. On the one hand, it gives people increasing control over their own medical data, but on the other hand, if people want help, but are frightened of the consequences, it could develop into a public health crisis with people denying themselves prompt care and not revealing conditions until symptoms have progressed.

In a recent article, commenting on these latest findings, The New York Times reports experts saying that the benefits of the increasingly personalized approach to health care are being lost because Americans are too afraid of the potential consequences to take advantage of it. Doctors say people can make better informed decisions about their health if they know what risk factors they may have inherited, for instance breast cancer or colon cancer, but this advantage is lost if they fear the consequences will leave them worse off financially.

Whether discrimination actually occurs or not is not the issue, say some health experts, because the anxiety is what needs to be addressed and the sooner the legislation is put in place to protect citizens the better. Dr Kenneth Offit, chief of the clinical genetics service at the Memorial Sloan-Kettering Cancer Center in New York, said fear of genetic discrimination was the main reason people were cancelling appointments to find out if they had cancer risks:

It’s a tragedy that people are being scared off by this,”said Offit, “we are dealing with potential lifesaving interventions”.

Elaine Warburton  www.geneticsandhealth.com

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Computer diagnoses Alzheimer’s more accurately than blood tests

 

A Wellcome Trust study published in the journal Brain reports that a computer algorithm designed to diagnose Alzheimer’s from brain scans proved more accurate than the current standard — blood tests, family interviews, and clinicians looking at the brain scan themselves. The experiments were conducted by scientists at the Wellcome Trust Centre for Neuro-imaging at University College London. 

Automated bio-imaging correctly diagnosed Alzheimer’s in 96% cases compared with 85% for standard testing.

The method involves teaching a standard computer the difference between brain scans from patients with proven Alzheimer’s disease (a condition caused by the build-up of plaques and tangles of tissue in the brain) and people with no signs of the disease at all.

The two conditions can be distinguished with a high degree of accuracy on a single clinical MRI scan without the need for time consuming follow-up tests, say the scientists.

They think the technique will be particularly useful for reassuring elderly people with mild memory loss that they are not suffering from Alzheimer’s disease.

For further information, click on:

http://www.wellcome.ac.uk/doc%5Fwtx043343.html

Elaine Warburton  www.geneticsandhealth.com

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Getting inside the head of Leon Kass, George W Bush’s bioethics advisor

 

Leon Kass served as chairman of the bioethics council charged with advising US President George W. Bush on many “hot” bioscience issues such as stem cell research and cloning.

Noted for his frankness and pretty much misogynistic ideals, once you cut through all this, his arguments do make some sense.  For example:

“There’s a large cultural bias toward progress, a belief that innovation is good innovation. …  I’m inclined to a more classically tragic view in the sense that all the good comes with some bad.”

AND

In the biomedical area, the people who are bringing you all the novelties occupy the moral high ground. They are human­itarians. They are interested in curing disease, ending suffering, extending life. If anybody says, “Let’s go slow here,” it looks like the imposition of a narrow religious view on what is a pluralistic society, and the response is “Get your morals off my science.”"

He was recently interviewed by Discover magazine and it makes for a thought-provoking read:

http://discovermagazine.com/2008/feb/20-a-chat-with-george-w-bush.s-conscience

Elaine Warburton  www.geneticsandhealth.com

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‘Out of Africa’ - 3 studies trace human global migration

 

Papers published in Nature and Science this week support the previously held theory that humans originated in East Africa, migrating outward until they reached all parts of the globe. But the genetic work from these studies brings a new level of precision to human migration studies, with each group finding subtle and intriguing details that shed light on different aspects of human genetic variation and ancestry.

Study 1 - University of Michigan:This study was based on the analysis of more than 500,000 SNPs and nearly 400 copy number variants — sections of DNA that are repeated or duplicated in the genome — for 485 individuals. These samples, representing individuals from 29 different populations around the world, were obtained as part of the Human Genome Diversity Project.

The results suggest East Africans are the most genetically diverse, while Native American genomes exhibit the lowest genetic diversity. Middle Eastern, Asian, and European populations, on the other hand, fall somewhere in between.  By following this decline in diversity, the Michigan team was able to retrace global human migration patterns. Consistent with previous archaeological date, language studies, and smaller genetic studies of mitochondrial DNA or autosomal or sex chromosomes, the research suggests humans originated in Africa, migrating first to the Middle East, then to Europe, Asia, the Pacific Islands, and — eventually — the Americas.

Study 2 - Cornell University: This study used comparative genomics to analyze 39,440 autosomal SNPs in 10,150 sequences from 15 African-Americans and 20 European-Americans.  Using the PolyPhen computer algorithm, they also assessed how many of the nucleic acid changes in each population were likely to produce amino acid changes that were “possibly” or “probably” damaging.

The researchers observed that the overall genetic diversity was higher in those of African descent, they found that those of European descent had more genetic variations that were predicted to be damaging. The authors attribute this to differences in population age and suggest European populations may have undergone a more recent population bottleneck — a decrease in population that leads to the selection of certain genetic traits — than their African ancestors.

Study 3 - Stanford Human Genome Center: This large study assessed 642,690 SNPs from 938 individuals from 51 populations and measured the genetic variation at each of the loci  and provided valuable information into human genetic variation both on a global scale as well as within relatively small geographic areas.

Specifically, the study found evidence for decreasing haplotype heterozygosity in populations as they moved further and further away from Addis Ababa, Ethiopia.  The study also found genetic evidence for differences in ancestry within populations. For instance, some individuals from the Middle East, such as Palestinians, Druze, and Bedouins, had ancestors from the Middle East as well as Europe and parts of South and Central Asia.

The results of these studies, while intriguing from a human ancestry perspective, may also provide insights into interpreting the genetics of some diseases, since they provide a framework for understanding genetic variation.

Elaine Warburton  www.geneticsandhealth.com
 

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“My Aspartame Experiment” by Victoria Inness-Brown

Molecular structure of Aspartame 

I recently wrote an article on my first hand research experience on the potential carcinogenicity of Aspartame - the artificial sweetener used in thousands of everyday products, particularly diet products. It was titled “Aspartame is safe … really!”

One of www.geneticsandhealth.com readers  author Carol Guilford sent me the following interesting link to a piece of research on aspartame carried out by scientist Victoria Inness-Brown.  I cannot comment on the science behind Victoria’s study as I have not investigated it.  However, the results are quite thought provoking.

Here is the quoted introduction to Victoria’s research by Carol, followed by the link to Victoria’s results:

“In any such study of even a few hundred test animals, it takes no more than a dozen or so of them to exhibit a particular lesion… to associate with the test agent, i.e., aspartame or its related chemicals.”

Dr. Adrian Gross, FDA toxicologist in a letter to Senator Howard Metzenbaum, Oct.  30, 1986.

When Victoria Inness-Brown contacted me about  “explosive information” concerning aspartame (Equal, NutraSweet) the controversial, artificial, chemical sweetener, I didn’t know what to expect.  Despite overwhelming scientific evidence of aspartame’s danger to human health (tires have been recalled for less) it remains in 6,000 food, drink and medicinal products.      

Who could imagine a private citizen would do  an aspartame experiment  with 108 rats for 2 years and 8 months? 

The late Dr. Adrian Gross  explained that rodent experiments are the means to find out what a particular substance will do to human beings. 

Look at Victoria’s pictures of her animals that ingested the equivalent amount of aspartame (in human terms) of less than one diet coke a day, until their spontaneous death.  Importantly, the control groups, those fed no aspartame  were free from visible effects.

The artificial sweetener, Aspartame, was approved  by the FDA, in 1981.  By the 1990’s, the FDA had a list of 92 symptoms reported to them by 10,000 consumers, a list revealed to the public under the  Freedom of Information Act.

Personally, I have read thousands of cases from aspartame victims, many who post on Yahoo’s Aspartame Victim Support Group list, but Victoria’s photographs, the first ever to be released from any study, give meaning to the hypothesis,  “A picture is worth a thousand words.”    

Following is Victoria’s gutsy account of why she did her experiment, the protocol she used to conduct it and the remarkable pictures of the rats.

http://myaspartameexperiment.com/

Elaine Warburton  www.geneticsandhealth.com

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