Whole Genome Sequencing and Newborns

This post is written by Claritas Genomics, a sponsor of the Genes in Life whole genome sequencing campaign. 

Seems as though any panel I participate in recently asks the question – “When will each newborn baby have their genome sequenced?”….  In fact, it is beginning to happen now at very small scale.

When asked though I do ponder momentarily and wonder whether the individuals asking the question really understand that sequencing is only the start of what is needed to make the information useful for a new baby either immediately at birth or throughout their life time.

For our conversation today I am afraid I will ask many more questions than I can answer but perhaps it will help each of us begin to think a bit more about this question and how we can help each other in our quest for using genomic information to improve health for all.

Consider that genome sequencing is followed by the cataloging of more than 3 million variations or “differences” within the child’s DNA. These variants are identified as different from the current “reference genome,” which is a whole human genome assembled from many individuals. It is created to be a representative example or an “average” set of human genes– But this begs the question, what really is a good reference genome for a baby born in China? Portugal? Africa?

…and once you identify the variation, how do we interpret these variations as they relate to the baby’s health and wellness, or perhaps disease diagnosis?  How do we use this sequence and complexity of the interpretation to complement their medical care today, ten years from now and well into the future?  We are just now beginning to understand the power of this information.

Perhaps it’s a good time to reflect where we were a bit more than ten years ago – the year 2003 – to offer a glimpse as to how quickly new technologies emerge and with them new knowledge will also emerge. But also how quickly technologies wane as the years advance.  In 2003, there was but one prominent technology used for sequencing human genomes. This machine helped build the first human genome sequence…but costs were high and the expense prohibitive to imagine sequencing tens to hundreds of human genomes.  Yet a few years later in 2005, a new technology that could take small pieces of DNA and string them together as they were being sequenced ushered in a new era that we know today as “next-generation sequencing”.  And yet that initial sequencing machine which ushered in this new era -- is today no longer being sold, supplanted by new machines that can do things cheaper, faster and is now driving sequencing to a commodity available for fractions of the cost just over ten years ago.  A future with a $100 genome? …Quite probable.

Today we have millions of variants as a result of these machines – and we are beginning the arduous task of describing the impact of these variants for the individual.  Building ever increasing knowledge of these variants will ultimately become integral to the patients’ health record to better diagnose, monitor treatment and predict long term outcome for the individual.

And issues will always arise about who has access to your genome sequence – it’s your sequence and you should have the right to continually make decisions about who can access your data and for what purpose. Here Genetic Alliance is taking a leadership role.  These are big issues we as a society need to discuss, debate and lead in the years to come.

I always suggest that one need only imagine the future.

What was once a technological roadblock now becomes an information and interpretation challenge for us all.   By envisioning this future, much of what we predict will happen and often happen more quickly than one imagines.

I firmly believe it will be possible to sequence every newborn and I will continue to learn more about how this information will teach us about health and wellness tomorrow – these are the secrets waiting to be revealed for each of us. 

  Claritas Genomics is a CLIA-certified genetic diagnostic testing company that combines the power of genetic analysis technology with the clinical expertise of the world’s best pediatric specialists to inform and improve patient care. Visit www.claritasgenomics.com to learn more!