The final human genome sequence is a watershed event in human and medical history. The next pivotal event will be to correlate this information to specific diseases. Perhaps the most significant revelation that has so far emerged from modern genomic studies is that we are all descendants of a remarkably small family group that emerged perhaps less than 100,000 years ago. Although we are closely related, sharing 99.9% of mankind's genetic make-up, the remaining 0.1% of genetic variation accounts for many of the diseases which afflict man, and for the different ways humans respond to medications. Individualized medicine will revolve around the newly-achieved understanding of the clinical implications stemming from this 0.1% of variation. These variations are called single nucleotide polymorphisms SNPs (pronounced SNIPs). These SNPs occur in one out of every thousand base pairs that make up the three to four billion units of the human genome. The challenge of future genomics will be to correlate these tiny variations with disease.
To this end, in April of 1999, the SNP consortium was formed by a group of pharmaceutical firms, research institutes, and the Wellcome trust. The SNP consortium is founded upon a database of information garnered from the genetic screening of 300,000 individuals. SNP maps would allow for genetic clustering studies to be quickly performed which could then be compared against individual genetic profiles, using inexpensive means such as gene chips.
A recently announced new consortium in the UK backed by the Medical Research Council (MRC) and Wellcome Trust will greatly outstrip the SNP consortium in terms of its mandate. Drawing on the organized resources of the centralized British healthcare system, the UK plans to enlist 500,000 physician-recommended individuals in order to form a national database. The British medical system has health records on the enlisted patients and their families extending back more than fifty years. Combining the health records with the SNP information will allow vast amounts of information to be harnessed and correlated with individuals who bear similar genetic markers. The database is going to be directed at individuals aged 40-70 years, and will concentrate on "late-onset diseases, developing and targeting new treatments and assessing an individual's risk so that preventive measures can be taken."
- Scientific American. June 2000.