Genomics

Why You’ll Sequence Your Genome More Than Once


I have gone through the sequencing process three times, to do my genotype, my exome and my microbiome. As technologies evolve and new nuances are gained by the new improvements, sometimes it becomes necessary to repeat the sequencing. This made me think about statements that I have heard in some discussions: “Sequence your genome at birth and there you have it for the rest of your live.” I do not believe this will be the case.

“Sequence your genome at birth and there you have it for the rest of your live.” I do not believe this will be the case.

cropped-agcta-background2.png

I think that given the market pressures to sell more tests and the improvements in the technology, that people will not be sequenced once, but many times.

Here is a detailed list of reasons why I think you will sequence your genome (or microbiome) more than once:

  1. Technology is evolving all the time and gaps or errors that are tolerable today will not be acceptable in years to come. Think about the human genome reference sequence map undergoing refinements and revisions (currently we are in version GRCh39). We will probably end up with integrated genome-based profiles that every time a new test is performed get updated. So will also be with the risks and susceptibilities calculated as a consequence of our genetic tests. For now think of the current limitations that exist with sequencing repetitive regions (e.g., telomeres, centromeres), having to align the genome to a reference sequence (as opposed to self assembled graph genomes) or simply errors that we know occur in current sequencing technologies. 
  2. You may develop a tumour or some kind of benign tissue for which you may want to know what the genetic cause of its growth is.
  3. You may want to analyse dynamic chemical modifications of your genome such as methylation, or chromatine conformation or simply understand the expression pattern of a particular tissue.
  4. You may want to perform single cell genome sequencing for some type of cells (e.g., sperm to identify reasons for infertility).
  5. You may want to perform microbiome sequencing of different parts of your skin or gut in time series, to understand how your symbiotic microbes interact with you depending on the diet or therapeutic treatment you are having.

I believe the sequencing of a person will not be just a once-in-a-lifetime event, but a process in which people will have to get new patches and upgrades, in the same way you update software in your computer.

bgi-exome-samples

Because of these reasons, I believe the sequencing of a person will not be just a once-in-a-lifetime event, but a process in which the patient will have to get new patches and upgrades, in the same way you update software in your computer. Apart from these, it will be key to consider other key measurements that will also come, such as MRI, your phenotypic changes (e.g. as you age) and analysis of your metabolome or proteome for a particular tissue. These additional measurements will add flavour and texture to your clinical genome data interpretation. The integration of all these measurements into a coherent ecosystem is what will enable the realisation of the promise that precision molecular medicine poses.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s