SMOKINCHOICES (and other musings)

July 18, 2013

M.O. Genetic Tests

Pediatric Research

Mail-order genetic tests are not for everyone


Dr. John Barnard

Last week I succumbed to curiosity and ordered a DNA Spit Kit from 23andMe to have my genome analyzed.

Admittedly, I also found the new, low price of $99 irresistible.

The name Spit Kit belies the cascade of sophisticated genetic technology that will ensue when my sample vial arrives at 23andMe. To be sure, it colorfully shows just how easy it is to get the ball rolling. Just spit and ship.

  • Back when 23andMe started in 2006, the testing cost $999.

As with many other technologies, the price quickly plummeted. The company has been highly visible in its marketing of using advanced genomics technology to empower health consumers.

The company’s name is a play on the fact that humans have 23 chromosome pairs that harbor our genetic information.

Genomic testing strives to give information about all of one’s genetic material. The result is a comprehensive glimpse of our health — or potential health — across the billions of data points that make up our genome.

23andMe uses what the company calls BeadChips to test for approximately 1 million genetic variants called single nucleotide polymorphisms, or SNPs. These basically are markers of genetic variation that correlate with disease risk.

Although a SNP analysis is a detailed test, it is not nearly as comprehensive as genomic sequencing, which is still too expensive for most direct-to-consumer applications.

As health professionals and as a society, we need to gain a clearer understanding of all the personal, medical, ethical and economic implications of genomic testing. In fact, some medical schools have designed entire classes in which students get their genomes analyzed as a focal point for instruction.

Molecular-level introspection — what a great way for physicians to learn.

In a few years, we will likely perform detailed genomic testing on all infants before, or soon after, birth. This information will become part of the permanent medical record and inform medical decisions and health care behaviors for decades to come. Health care will be revolutionized.

So why am I checking out my personal genome? The choice is less a decision to embark on the “personal journey of genetic discovery” promised on the company’s website than it is an interest in understanding the private considerations and perceived individual health value of doing a deep dive into one’s DNA.

In a later column, I will share some of my personal genomic results and the sentiments that go along with learning them.

  • I expect to hear objections from some of my scientist co-workers who feel genomic technology is not ready for prime time. They feel that commercialism has gotten too far ahead of our ability to provide a clinically meaningful interpretation of SNPs or terabytes of complex data that come from a single genome sequencing analysis.

To this, I say it is too late — the horse is out of the barn.

Dr. John Barnard is president of the Research Institute at Nationwide Children’s Hospital. john.barnard@

(My Comment:

Bravo Dr. Barnard!   Gutsy man, for all the right reasons.   This isn’t something I’d want to do, but I support his effort and the creative effort which has gone into all this science.

Don’t happen to think that most of us are actually capable of utilizing this information in the best possible manner, fraught with fear and dread as so many of us are when we believe that life scatters illness out amongst us randomly. Nor do I wish to sound as if I had all the answers, to be sure, but it seems to me that our chances  would be better served if we made conscious effort to determine the presence of harmful or toxic substances which we are forced to deal with in our everyday lives.  Like food choices (going for the purest and organic) and also to  opt out of allowing toxins into our body, no matter how high the authority which is recommending them.  Just living in our increasingly polluted world is  job enough without adding to our organic burden.   Just sayin’.   .     .     .   Jan)


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