It is very difficult to predict the future, yet I will give it a try: Your (grand)-children will not believe you dared to live without knowing your genome sequence.

During the last decade, DNA sequencing and analysis technology has developed at an incredible speed. At the time when I studied biology, sequencing of a complete human genome was beyond comprehension, pure science fiction. Now we apply genome sequencing on a daily basis.

In a medical setting, genome sequencing is applied in clinical genetics, trying to diagnose the cause of genetic disease. A NIPT test, a simple sequence based analysis of a blood sample, is offered to every pregnant female. Cancer treatment develops in the direction where the tumor is analysed by sequencing DNA and RNA to determine deregulated pathways to guide treatment. Soon, for standard hospital visits, before treatment starts, genome sequence will be offered to support the diagnosis and to prevent adverse drug effects. In addition, bio-molecular measurements (RNAseq, metabolomics, proteomics, etc.) will be used to follow the efficacy of the treatment received.

What’s currently missing is genome sequencing for prevention. Our DNA, our building plan, contains valuable information regarding our genetic talents and health risks. Why not determine your DNA sequence and use it to plan ahead and reduce health risks. The first obvious outcome is how your body metabolizes medicine, your pharmacogenetic profile. What lies ahead,  next to your genome sequence, are regular health checks based on blood-derived RNA sequencing to determine abnormal gene expression profiles pointing to developing health problems.

So the future?, …sequencing!

Speaker: Johan T. den Dunnen,
Human Genetics, Leiden University Medical Center, Leiden, Nederland