Imagine you are sick. For many, this is not a difficult task. Now imagine you are sick and none of your doctors know why. Your symptoms suggest that you have a rare genetic disease, and you’ve been tested for a mutation in the gene responsible, but the results are inconclusive. The laboratory found a change in your genetic sequence, but is unable to definitively state that it’s what’s causing your symptoms. And with no definitive result from the test, your doctor—and your insurance company—are unwilling to prescribe the expensive course of drugs needed to control your symptoms.

While many people might be willing to dismiss the chances of this happening to them, when you start to look at the facts, things start to get a little frightening. There are over 6,000 diseases that can be caused by a mutation in a single gene and it is estimated that 1 child in every 200 born will suffer from one of these diseases. Add to that the number of cancers that have an inherited genetic component and the chances of you, or someone you know being in this position is quite high.

Now imagine that the information the laboratory and your doctor needed to make an accurate diagnosis was out there, but it wasn’t accessible to them: it was hidden away in an obscure academic paper, or in some researcher’s forgotten notes.

Unfortunately, this is the situation that is currently facing thousands of people across the globe who are suffering the devastating effects of genetic illnesses.

The role that our genes play in our health and well-being is well known. The genetic makeup of an individual can cause a host of genetic disorders that can manifest from early childhood (cystic fibrosis, Prader-Willi Syndrome, Fragile X Syndrome) to adulthood (Alzheimer’s disease, polycystic kidney disease, Huntington’s disease) as well as significantly increase the risk of contracting more common diseases such as schizophrenia, diabetes, depression and cancer.

The world is rapidly moving towards an era where it is both economically and scientifically feasible to sequence the genome of every patient presenting with a chronic condition; already in the past decade the cost of a whole-genome sequence has dropped from several billion dollars to a few thousand.

But being able to sequence the genome of a patient cheaply and easily will be useless if we are unable to determine if the variations present in a sequence have an effect on human health. We are suffering from a critical lack of information about the consequences of the vast majority of the mutations possible within the human genome. And, even more concerning, is the fact that even when that information exists, it is not being shared and captured by the global medical research community in a manner that guarantees widespread dissemination and long-term preservation.

The Human Variome Project is trying to change this. We strongly believe in the free and open sharing of information on genetic variation and its consequences and are dedicated to developing and maintaining the standards, systems and infrastructure that will embed information sharing into routine clinical practice. We envision a world where the availability of, and access to, genetic variation information is not an impediment to diagnosis and treatment; where the burden of genetic disease on the human population is significantly decreased; where never again will a doctor have to look at a genetic sequence and ask, “What does this change mean for my patient?”

The Human Variome Project is motivated by the knowledge that by working together, we will be able to significantly reduce the needless physical, psychological, emotional and economic suffering of millions of people.