The Human Variome Project

Genes are like shoes, we each have a pair. Or in some instances (Homage to Imelda Marcos) several pair. As is the case with copy number variation(CNV). Let me explain, sometimes we have more than one pair of the same gene. It is a tough concept to get, primarily thanks to our "friend" The Monk. This is even more important than the idea of single nucleotide polymorphisms (SNPs). Simply put, with SNPs we differed approximately .1% millions of base pairs. Still there had to be more to the variation in humankind, and that's where CNVs come into play. This may lead to dosage effects of a certain protein or two. But how many copies does the average person have of each gene? Perhaps this will be discovered in the variome. The Wha?

The lead article in Nature Genetics this month describes the Human Variome Project. Much like the Human Genome Project, it will be a collaborative work. Much like the HGP, it will be another jumping off point for disease discovery and prevention. The project describes itself as " A global initiative that will catalogue all human gene variations – and will make that information freely available to researchers, clinicians and patients everywhere. "

I am excited about what this means. I have often been plagued by the dreaded Variant of Uncertain Significance. What that means in lay terms is "You're not quite normal, but you're not quite ill........Yet." It is one of the toughest things to counsel patients about and I hope the HVP will remedy that.