Saturday, October 11, 2008

DNA Train & Bill Gates


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Arthur Caplan, Ph.D.,a bioethicist at Harvard (2005) espoused a

theoretical scenario regarding Bill Gates.image

"Who needs Bill Gates? No, I don’t mean who needs a gazillionaire corporate titan, a man whose company, Microsoft, took in billions of dollars last year by controlling nearly all the software used to run nearly every computer on the planet.

No, I mean,  literally, who needs him?  If you could go back in time and stop the birth of the world’s most famous nerd, would you?

You probably answered my question with a "no.".......he is the father of a computer revolution that has brought much good to many people throughout the world. Add to that achievement his current generous philanthropic activities supporting some very worthy causes, such as vaccine research and a center for autism research in Seattle, and the case for having Bill with us becomes pretty persuasive.  What if I told you it’s possible that Gates has a medical condition that accounts, in part, for both his tremendous achievements and for his "nerdiness?" Gates is widely reported to display many personality traits characteristic of a condition known as Asperger’s syndromeimage Asperger’s is a mild version of autism, a more serious condition that renders many children unable to talk, be touched, communicate or socialize. While I certainly do not know if Gates has Asperger’s, his difficulties in social settings are nearly as legendary as his genius, so it's possible.  That said, if you had been Gates' potential mom or dad 50 years ago, what would you have done if you knew about his abilities and flaws before he was born?

Asperger’s is the least disabling form of autism and research is beginning to show that it may also account for the presence of some special capabilities in areas like mathematics, computer science and engineering. But the same genes may also create a person who is socially awkward, easily distracted, very introspective and in many ways withdrawn and solitary.

The reason I ask these questions is that there is a good chance we will soon have a genetic test for detecting the risk of autism in an embryo or fetus. The development of such a screening tool raises the possibility that parents might one day have the option of preventing the birth of a child with even a mild case of the disorder.


DNA. or desoxynucleic acid was postulated and proven over forty years ago. At that time it was heralded as the next penicillin of health care.

Millions, and perhaps billions of dollars (now worth much less) have been invested in learning more about the molecules of our primordial basis for reproduction.

Recently several high profile biomedical companies have begun to promote wide screening of individuals who appear to be healthy as a predictor for degenerative and/or chronic diseases. Is this technology ready for 'prime time'? Several question have arisen.  The state of California with a recent "cease and desist order"  decided it is not ready, under the present format proposed by the three companies who stand to make a fortune if this idea catches on with the public. (Affymetrix, Navigenics). image image Microsoft seeing a chance to capitalize offers "HealthVault" to store the data for future use by patients and health care providers in this prospective study. 

Will this testing be cost effective, and where is the evidence based "medicine" ??  Will health insurance companies reimburse for this lab test?

"The cost of genetic testing can range from under $100 to more than $2,000, depending on the nature and complexity of the test"

Genetic testing has proven it's worth in predictive pre-natal testing for hereditary chromosomal abnormalities such as trisomy 21, trisomy 18, cystic fibrosis, and other tests not related directly to genetic analysis have predictive value. (Tay-Sachs disease, neural tube defects)


A consortium of health care, technology and research leaders have joined forces in a first-of-its-kind research study to assess the behavioral impact of personal genetic testing on people who choose to receive such screenings to identify their potential
risk for developing certain diseases.

    Sponsored by Scripps Translational Science Institute (STSI), and the National Institutes of Health, ie, image image our tax dollars,  the study aims to find out if participating in personal genomic testing will improve health by motivating people to make positive lifestyle changes, such as exercising, eating healthy and quitting smoking, as well as decisions to seek further medical evaluation and preventive strategies. The study will offer genetic scans to up to 10,000  imageemployees, family members and friends of the nonprofit Scripps Health system in San Diego and will assess changes in participants' behaviors over a 20-year period.

    Co-sponsors of the study include Navigenics Inc. of Redwood Shores, Calif.; Affymetrix of Santa Clara, Calif.; and Microsoft Corp. of Redmond, Wash. Study participants age 18 and older can receive a scan of their genome and a detailed analysis of their genetic risk for more than 20 health conditions that may be changed by lifestyle, including diabetes, obesity, heart attack and some forms of cancer. Other companies such as 23andme will offer the range of tests (using a small sample of saliva) for $399.00 through  the internet ( secure)

"Genome scans give people considerable information about their DNA and risk of disease, yet questions have been raised if these tests are ready for widespread public use," said Eric J. Topol, M.D., director of STSI and principal investigator of the study. "Our study will prospectively evaluate the effect that state-of-the-art gene scans have on people's lifestyles, behaviors, diets and psyches."

    Affymetrix will scan each participant's genome and Navigenics(TM) will interpret the scan results and offer personalized guidance on steps to lessen the chances of negative health impact. This information will be available to participants on Navigenics' secure Web site. Each participant will be able to enter and store clinical and lifestyle information in an individual image Microsoft HealthVault(TM) image account, allowing the participant to manage his or her personal health information in one location and share it,
as desired, with health care providers or others they trust to help make more informed health care decisions. (ref: PR Newswire)

It's a brave new world out there!!!

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