Tag Archives: genetic testing

A Documentary on the Use of Sequencing Technologies in Medicine

A documentary titled “Cracking Your Genetic Code” was recently released, and it offers a glimpse on how genomics is transforming medicine. Prominent scientists are featured, including Francis Collins from the National Institute of Health and Eric Lander from the Massachusetts Institute of Technology. In the documentary we are introduced to technologies for sequencing the entire genome; Illumina is being mentioned as one of the companies with such technology. We hear real-life stories where genome sequencing and genotyping led to diagnoses and successful treatments that would not happen otherwise.

The documentary does not only present the promises that personalized medicine is bringing, it also raises important questions concerning the readiness of the society in adopting this new form of medicine. There are always pros and cons with introducing new technologies to our daily lives. It is a matter of engaging and educating the public so the society as a whole can make some informed decisions during this healthcare revolution. Cracking your Genetic Code is a great introduction to the new role of sequencing in medicine, and I hope you will share it with your colleagues and friends!

Human Genome Project – Experience Report

John Lauerman, reporter with Bloomberg News got his genome sequenced. He is part of the Human Genome Project of the harvard medical school, where 10 genomes have been sequenced and analysed so far (Bloomberg).

After receiving his result he was first relieved to find no hint to have the APOE4 gene variant that raises the risk of Alzheimer’s disease. But what he learned then is that “No news wasn’t always good news; it just wasn’t bad news”. (Bloomberg) The researchs told him that the sequencing simply didn’t reveal information about APOE4. A study update however revealed later that the APOE4 gene variant indeed is present in his genome. This variant means an approx. 3 percent increased risk of developing the disease by age 80. But what does that mean in any single individual’s genome? At least Lauerman was less worried being his parents in the late 70s and 80s and having not developed Alzheimer’s disease.

But the researches have found in addition the rare JAK2 variant in Lauerman’s genome that is linked to a cancer-like blood disorder.  Knowing the risk, he now has the chance with increased vigilance to evaluate a potential disease early and to react accordingly.

And in that context Lauerman pointed out an even more important point: as a reporter working on a story about genomics, he had access to experts and genetic counselors that many people wouldn’t. What will happen as more people get results from broad genome sequencing? (Bloomberg) The question is if people can even handle the reports.

So as a personal conclusion I suppose I would be worried to hell when I would get to know my genome disorders. But it might be also a good thing, like in John Lauerman’s case. You would have the chance to detect a potential disease in an very early stage. You never know…


German Scientists Concerned About Some Gene Diagnostics Companies

In an interview published in the online version of Germany’s well-known weekly news magazine Der Spiegel, the medical ethicist and philosopher Prof. Urban Wiesing describes the concern of German scientists’ about some companies that offer analysis of private genome data via the internet.

As today’s gene diagnostics provide in most cases only information about increasing or decreasing risk of developing multifactorial diseases like lung cancer, diabetes or Alzheimer’s disease, he states that these results are in most cases only of limited informative value. Body weight, eating habits as well as physical activities often do tell much more about the risk of developing e.g. diabetes type II.
Nevertheless Prof. Wiesing thinks that such tests will be worth consideration once the predictive value gets better in the future. Today he compares the informational value of such tests with an oracle.

The researchers are most worried about the fact that customers of such companies receive critical results without any face to face consultancy from medical experts. They share our opinion that it is absolutely necessary to explain these complex results and the implications they MAY have for the life of the patients (and their families) in an appropriate way. It is not without reason that such internet companies are forbidden in Germany.

What is your opinion? Would you like to know that e.g. your risk for developing diabetes type II is 30% higher than on average? Do you think you really would change your lifestyle in that case?

Genomics is More Than Research

During my routine scan through the news on GenomeWeb I encountered an interesting article from Christie Rizk Knowledge of Genome Can Both Simplify and Complicate Knowledge of Self. This article is about the book My Beautiful Genome from Lone Frank who is a scientific journalist with Ph.D. in neurobiology.

On the homepage of Lone Frank you can find a sneak peek and these 6 pages contain already so many insights into human thinking and facts about the genome, that you really start thinking about your genome. Would you really like to know, if you had a hereditary disease? On the other hand it might be an extremely happy moment in your life when you learn that you don’t have a specific gene variant that is present in one of your parent’s genome.

I totally agree that we need research on the genome, since we need to know more about genes and their impact on our lives. In your private life your personal genome can provide information whether there is increased risk for a selection of hereditary diseases. Despite that it is still your decision and responsibility whether and to what extent you like to work with your personal data, isn’t it?

Knowing one’s genome may however also a fatal decision. What, if you find out a predisposition for a disease that cannot be treated?  This may even cause severe psychological problems .  In this context it is frightening that  some companies try to make money with dubious tests that have no scientific justification. What do you think?

How Far Shall we go With Genetic Testing?

Map myGeneRecently I saw this sign on a house in the China Town of Singapore, advertising for “Genetic Testings for Health and Innate Talents”. Having a look on their homepage > I could find that they have two main objectives:

  1. Discovery of genetic variations that contribute to disease risk. (Disease Susceptibility Genetic Test or Genetic Predisposition Test)
  2. Discovery of genetic variations that contribute to intelligence, personality characteristics, superior athletic performance, vocal ability, dancing ability, and other areas where humans can excel. (Innate Talents & Traits Genetic Test)

Obviously a lab in the US is testing some SNPs on Affymetrix Arrays > for them. It is not clear what they are testing, especially in terms of “Innate talents”. They have some testimonials > that do not really say much. With or without knowing a genetic disposition it makes sense to take care on ones diet and exercise the body. If an inherited disease is known in the family, it is wise to be careful and observe the body. Many genetic markers are only linked to a disease at a low percentage of penetration, but there is no guarantee that the carrier develops the disease later. Often this is a severe psychological burdon and requires genetic and psychological consulting.

Even more suspicious is the testing for “Innate Talents”. What is really known about it and how far shall we go?