Topics:

Genomic sequencing--is it of value?

Tools

Genome sequencing and its value (or lack of) have been all over the news over the last week. In a study published in Science Translational Medicine, the researchers estimated the ability of whole genome sequencing to identify those people who might be at risk of 24 specific diseases, using data from twin studies. The results suggested that genome sequencing might tell some people that they have a predisposition to one disease, but will be negative for most people and most diseases.

So, does the latest study really rubbish the value of genes as markers of disease? Well, yes and no. According to a post on the Nature News Blog, this study does have limitations. It doesn't include any genome data and uses an unrealistic mathematical model without correcting for intrinsic flaws in twin studies. And while it points out that there are limits to genetic data, most biomarker and genetic researchers were already aware of these, because we are still in the early stages of understanding the impact of the vast amount of genetic data that we have generated, and are still generating. As Eric Topol, a cardiologist at Scripps Health in La Jolla, CA, and author of The Creative Destruction of Medicine: How The Digital Revolution Will Create Better Health Care, said to the Nature News Blog: "Let's fast-forward a year or two, when we've sequenced a million or two million people in whole-genome sequencing studies. Then let's see whether or not the predictive capacity is limited, or limited for certain conditions but not others."

And finally, the post points out that the heavy media coverage that the study has drawn could affect how the general public views genetic research, with headlines like Decoding Your DNA: Not as Useful as You'd Think and Gene tests: Your DNA blueprint may disappoint, scientists say potentially leading to a public backlash against genetic research personalized medicine.

Why is this important to us, over and above a review of scientific methods and media frenzy? Many of the recent biomarkers are genetic, and while genetic biomarker research is never going to be the "be all and end all" or the magic bullet of biopharma and medical research, it can point researchers in the right direction, and help build a picture of how a disease or a predisposition builds from a number of factors. So keep sequencing, and we'll keep reporting the results.--Suzanne Elvidge (email)