NGS Expert Blog

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…