Let’s Talk About Direct-To-Consumer Genetic Testing

Let’s Talk About Direct-To-Consumer Genetic Testing

by Dr. Hsien-Hsien Lei
Posted April 15, 2008 in DNA Testing

help signCall for opinions on direct-to-consumer (DTC) genetic testing! I know there’s no shortage around these here parts.

Students from a molecular biology class in South Carolina have been asked to discuss DTC genetic testing in a Web 2.0 setting. The venue is right here at Eye on DNA in the comments section of the following post:

Direct-To-Consumer Genetic Tests – Good or Evil?

The discussion is already off to a great start. If you have a few minutes, please come join us!

Thank you!!



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Comment by Ashton Haney

DTC genetic tests provide its consumers with a variety of different types of tests that are offered, such as ones testing for complex traits (i.e., cancer diabetes), full genome sequencing, specific conditions (i.e., athletic performance), specific diseases, paternity and family relationship, provide produces, or even offer recommendations for aesthetic concerns (Offit, 2008). Consumers are now capable of knowing almost all there is to know about their personal genome or specific aspects of their genes, which will allow them to uncover the questions of what lies beneath the surface of the skin, particularly on the genetic level. With less regulation of this new spin on genomic information and personalized medicine, those interested in taking the genetic tests can do so almost effortlessly and without the interference of a third party (i.e. a doctor, insurance company). If there were increased regulating requirements for the access to and administration of DTC genetic tests would inevitably lead to more parties getting involved with an individual’s private affairs and that of one’s genes is definitely considered a personal matter. For example, individuals seeking testing may not want their results to end up in the hands of insurance companies because as genetic testing becomes more prevalent, it may become harder to find insurance that will cover individuals who at a young age discover they carry the gene for Huntington’s Disease or Breast Cancer. Also, the more people involved with genetic testing decreases the assurance of confidentiality in regards to test results and may prevent affected individuals from being treated as equals in the work place, school, or even at home.

Comment by Dr John Michael Nahay

In my Molecular Genetics class on Monday April 21
at Burlington County College in New Jersey,
a student reported some piece of news that supposedly this direct-to-consumer genetic testing
will be brought down to $100. I do not know when that is supposed to be.

I can assert with 100% confidence: this news story
is false. Genetic testing will never cost a consumer only $100.
Proof: comparatively extremely simple blood tests
for only one or two enzymes today from Lab Corp
cost a minimum of $181. My prostate biopsy results
cost $2700 from Quest Diagnostics this year.

And costs absolutely never go down – on anything,
any more. Inflation makes everything more expensive
with time.

The only exception to this rule was the short-lived
computer craze of the 1980s and 1990s when prices
dropped on computer-related items – dvd players,
digital camcorders, computers. The only reason
these prices dropped was due to actual, objective advances in technology. Those fundamental advances
in software and hardware technology ended by 2000.

In all other fields of human endeavor, there have been no fundamental important breakthroughs in technology. I am glad I am studying molecular genetics after most of the human genome project (HGP) has been completed. One might be tempted to count the HGP as a “fundamental advance”. But it’s not. It is certainly crucial, necessary, laborious, expensive. But, it is not “revolutionary”. It is thousands of scientists and technicians latching onto the few past revolutionary ideas and laboratory methods
and running with them to fully classify the genome
of one species – humans – and perhaps a few other model organisms (Drosophila melanogaster, Gallus gallus, etc.)

A “fundamental breakthrough” to me means
1) deriving a new, observable, and scientifically falsifiable physical law out of deep
complicated mathematics, rather than simply using
math to play “catch up” modelling new physical laws.

Example: mathematics predicting the existence of
some subatomic particle. Then scientists prove
the existence of said particle in the lab.

2) figuring out how to get around conservation
laws of mass-energy and entropy. Not violate.
By “get around”, I mean, “find a new additional
term or generalization to existing laws which is the key to us doing useful things”

3) figuring out conscious, (nearly) determined control of matter, instead of just relying upon the probability of enzymes and genes to do the work
of placing atoms where we want them to be.

4) making use of some law of physics which has been not been utilized before. Or, making use of some particle of physics – others than electrons and atomic nuclei – or force of physics – other than the electromagnetic force. There’s a whole “particle zoo” – as physicists call it – to put to use.


Dear Dr. Nahay, Thank you for your comment.

FYI, you may be interested in the following article in Technology Review:

The $100 Genome

Forget the $1,000 genome. Some companies are looking far past that goal to create a really inexpensive sequencing technology.

Comment by Kelsey Frank Subscribed to comments via email

To expand on Ashton Haney’s comment, not only does the issue of confidentiality of the DTC tests come into play with the hype surrounding these firms, but also there is a lack of accountability for the reports they are generating and giving to the consumers. By not actually addressing the correlation of the results to the clinical effectiveness or meaning of the test results, these companies are presenting the consumers with an unclear picture of what personalized medicine can really be.

Eventually, I think that the hype for these tests will wear off, and the firms who are actually developing the expertise, technology, and clinical support for their products will be the ones who are left standing. To name a few, Empire Genomics and Genoptix are firms that have been taking action to facilitate the development of the personalized medicine market, but doing this in a responsible manner.

There is so much more progress to be made in the area of personalized medicine. I just hope the companies offering these DTC tests aren’t in fact hindering the progress.


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