Have your family's genome sequenced; the Wests did it

It would have been an inconceivable venture only a decade ago, before even the first full human genome had been published. But now a family of four has paid close to $US200,000 to sequencing company, Illumina, have their full genomes sequenced.

This makes the family the first to be publicly named to have its entire genome sequenced for other than medical reasons.

The family includes John West, former CEO of sequencing technology company, Solexa, which was acquired by Illumina in 2007, his wife Judy, 17 year old daughter, Anne, and 14 year old son, Paul.

After being approached by the family, Illumina consulted an ethics advisory board and personal physicians, before going ahead with the sequencing for the underage children.

The genomes of John and Judy have been submitted to the National Center for Biotechnology Information (NCBI) database, while those of Anne and Paul will remain private until they reach the age of 21, when they can decide if they wish to submit their genomes to the NCBI.

The sequencing was performed using Illumina's Genome Analyzer technology as a part of the company's Every Genome service, through which it offers genotyping and full genome sequencing to the general public.

Mr West is a strong believer in genome sequencing as a method of gaining forward visibility into potential health risks.

"Sequencing individuals provides fantastic visibility into our genetic makeup,” he said in a statement.

“By sequencing a family of at least four we can go a step further to interpret compound heterozygote variations in genes – those cases where multiple variations in a single gene, but on opposing chromosome copies, combine as a virtual homozygote.

"I expect that these are much more prevalent, and the source of much more phenotypic variability, than previously understood. Working with medical geneticists, we look forward to exploring this new visibility into factors influencing our future health."

With the dramatic reduction in the cost of full genome sequencing, it's possible that the service will be available to and affordable by a great many more people in the coming years.

Some see ethical concerns with such genome sequencing, particularly for children. Genome sequencing can reveal the possibilities of developing disorders like Alzheimer's or other genetic conditions, or it can reveal different paternity - information that some individuals may not wish to know.

Others see inexpensive genome sequencing as the beginning of the personalised medicine revolution, where treatments can be targeted at preventing diseases before they occur, or can be targeted at very specific causes rather than providing blanket treatments until something works.

"This represents an important step forward for genetic research as sequencing moves from single individuals to full families," said Jay Flatley, president and CEO of Illumina.

"More comprehensive information about a family’s genetic makeup will lead to greater understanding of the human genome and help physicians make better healthcare decisions for their patients in the future."