by Carol A. Westbrook
On November 12, 2013, I placed a package containing a small sample of my blood into a UPS drop box. It is a fait accompli. I'm going to get my Genome Sequenced! I was thrilled!
No doubt you are wondering why I wanted to do this. The short answer — because I can.
When I started my research career in the early 1980's, scientists such as myself understood how valuable the human DNA sequence would be to medical research, but it seemed an unattainable dream. Yet in 1988 the Human Genome Program was begun, proposing obtain this sequence within 20 years. I was hooked. I was active in the Program, on advisory panels, on grant reviews, and on my own research, mapping cancer genes. Obtaining DNA sequence was painstakingly difficult, while interpreting and searching the resulting sequence was almost beyond the capability of the computers of the time. Nonetheless, in 2003, a composite DNA sequence of the human genome was completed, 5 years ahead of schedule. Shortly thereafter, two of the leading genome researchers, J. Craig Venter and James Watson, volunteered to have their own genome sequenced in their research labs, and Steve Jobs purportedly had his sequenced for $100,000.
I never imagined that in 2013, only 10 years later, sequencing and computational technology would improve so much so that an individual's genome could be sequenced quickly and (relatively) affordably. I could have my own genome sequenced! For a genomic scientist like myself, this was the equivalent of going to the moon.
I found a company, Illumina, which offered whole genome sequencing for medical diagnosis. I wrote to Illumina, “I have had over 25 years of experience in the Human Genome Program, and at this time would like to truly explore what I contributed to, these many years. I think the time is right to do this. I am able to interpret the results based on my previous experience in this field, and am comfortable with any results that might be found. So is my family. Realistically, I am 63 years old and healthy, so my risk of discovering a dangerous genetic condition is minimal.”