Is Myriad Genetics right to patent the BRCA genes? More importantly, what are the BRCA genes?

Can human genes be patented is the loaded question currently being debated in the U.S. Supreme Court. Specifically, the case in question is regarding a Utah-based company called Myriad which holds the patent for two genes called BRCA1 and BRCA2.

The outcome of this case is being touted as a potential game changer in the field of medical genetics because it concerns the question of whether human genes are eligible for patents. However, thousands of genes have been patented in the past decade, so why this brouhaha over the BRCA genes?

The basics

Except for our red blood cells, every cell in our body contains hereditary material called DNA. The set of all the DNA molecules present in each of our cells is called the genome.

Parts of the genome called genes direct the synthesis of different proteins in our body. Since every function performed in our body is mediated by proteins, a faulty gene often manifests itself in the form of disease.

All human beings are 99.9 per cent similar with respect to their genomes. This means that it is the 0.1 per cent (apart from environmental factors) that accounts for how different you and I look and behave, and our susceptibility to diseases like heart problems and cancers.

A group of people carrying one particular version of a gene may be more prone to a disease than those with another version of the same gene. Imagine the versions as two necklaces, each made of a thousand coloured beads. The difference in these ‘versions’ could be as small as one bead – but that’s all it takes for a faulty protein to be formed.

What medical geneticists try to do is identify such genetic variations that make some people more prone to, say, breast cancer than others. It’s not easy because most diseases are linked with hundreds of genes in our body. So, it is very rare that we bump into one specific gene that can be used to reliably predict whether we will be affected by a particular disease.

Enter BRCA

That is what makes the BRCA genes special. The BRCA1 and BRCA2 are two genes which have been found to be strongly linked to breast cancer (hence the acronym).

Both belong to a class of genes called tumour suppressor genes. That means they are responsible for a set of proteins that ensure that our cells do not grow uncontrollably, i.e. they suppress tumours.

However, some of us inherit a version of these genes that is not as capable at suppressing tumours. It was found out in the 1990s that women carrying one of these mutations are five times more likely to develop breast cancer and 10-30 times more likely to develop ovarian cancer.

The BRCA genes have since become an important medical tool. Women with a family history of breast cancer can get tested for the BRCA mutation, and depending on the result, take adequate steps to manage their risk.

People who know they are at risk are able to detect any abnormality at the earliest stage possible, and maximise their chances for recovery.

Things get complicated

The existence of a breast cancer gene on chromosome-17 (later named BRCA) was first detected by Dr. Mary-Claire King in 1990. Scientists understood that identifying and sequencing this gene would serve as a crucial clinical prognostic tool.

In 1994, a bunch of scientists formed a company called Myriad Genetics and managed to do just that. They identified risky mutations on the BRCA genes and promptly filed for a patent. By 1996, they launched BRACAnalysis, a genetic testing kit that can be used in clinics to detect these mutations.

Because of the patent, whoever wants to do the genetic test for BRCA must compulsorily use Myriad’s kit, costing thousands of dollars, though the actual cost to the company is only about US $200.

Aren’t the restrictions that come with a patent denying a large section of people the right to stay healthy, and hindering research?

The bigger question is whether gene patents are valid at all. A gene is after all a product of nature, like gold, or wood. Myriad argues that isolation of a gene alters its properties enough to qualify for a patent, an argument that is making many scoff, but is giving the judges a headache nonetheless.