Menu Close

The benefits of mapping genetic disease in the Human Variome Project

Mapping genetic diseases will reduce the unknown risks in family planning. flickr/Mrs Flinger

Thanks to the genetic revolution and the internet, we can now see a way to map genetic diseases and reduce the burden of inherited conditions.

Each year more than 3 million children born with a serious genetic defect will die; most of these deaths (90%) occur in developing countries. In the west, we have a 1% chance of having an inherited disease at birth.

Of the 20,000 or so genetic diseases that have been discovered, the most common are:

Cystic Fibrosis sufferers are likely to die of lung malfunction in their 20s and a similar fate awaits those affected with Duchenne Muscular Dystrophy.

In the past, we couldn’t do much to help, except treat the symptoms. But the genetic revolution has changed all that.

In 2003 the human genome sequence or blueprint was published. Now what we need to do is identify and understand all the causes of all genetic diseases. This is the mission of the Human Variome Project.

By discovering, collecting and sharing information on every possible mutation in the 20,000 genes that make up each human being, we can determine the impact of each of these variations on human health.

So, let’s go back a few steps to the cause of the problem. Why do we still have inherited diseases?

The problem all comes down to our DNA: a string of 3 billion units or bases of genetic information (the genome) which make us develop and grow normally via the proteins produced from each gene.

If a vital base is changed, called a mutation, we will develop an inherited disease.

Finding the fault which causes an inherited disease is like trying to find a needle in a haystack, unless you know where to look. Thus an error in the wrong place can give us inherited disease.

Our understanding of genetic mutations has been limited by the absence of a single, organised collection of the world’s genetic mutation data.

Twenty years ago when my colleagues and I first went looking, we found that many individuals, including giants in the field of genetics, were collecting data as an independent unpaid cottage industry. These efforts were fragmented, incomplete, and they were not being shared.

For example, if a Korean researcher found a mutation in a patient which caused inherited colon cancer, that information wasn’t available to an American patient with the same mutation.

This was often life saving information – but it wasn’t getting to all of the people who needed it.

Tens of thousands of diagnosticians, clinicians, and researchers were collecting information about genetic defects and mutations worldwide but not sharing it.

I decided to develop ways to share this information. We started long before the internet by creating a journal – Human Mutation. This helped in a big way to get data into databases.

Information at this time moved around the world more by paper and fax. It wasn’t enough.

Fortunately the internet came along, which has given us the means of immediate communication and cataloguing. It has allowed us to begin gathering and sorting a Mount Everest of scientific data and make it instantly and publicly available.

In 2006 I led a meeting that initiated the Human Variome Project.

We brought together the World Health Organisation, UNESCO, OECD, the European Commission with major databases, genetic organizations and representatives from 30 countries and persuaded them to sign up to our vision.

Today, the Human Variome Project is an international consortium with an elected Scientific Advisory Committee. It is facing and overcoming the challenges of operating across political borders: in countries with different religious and moral values, different approaches to medical ethics and different standards of scientific training.

Sharing information on genetic variation and its consequences will allow more accurate and quicker diagnosis and alleviate the burden of disease on the community.

The simple act of sharing will also allow existing treatments to be delivered more effectively to patients and new treatments and cures to be developed and trialled.

During the next decade we will map the top 7,000 diseases and I am sure many more mutations will be discovered and shared.

We’ll quickly see the difference. Families and communities will be able to plan for the future because they will have the tools to see into their possible futures.

In 10 to 20 years, as definition of our genetic sequences becomes cheaper and the technology slicker, we will all carry our genome code around with us. Some say it will be just another application on our very smart phones.

And when we meet, fall in love and our thoughts turn to having a family, we will compare our similarities and differences in this new and unique way, and have choices about how we manage family planning.

This is my passion: to reduce the scourge of genetic disease on humanity. And it is, I think, an idea worth sharing.

This is an adapted version of a speech given at the TEDx Sydney, 28 May 2011.

Want to write?

Write an article and join a growing community of more than 181,000 academics and researchers from 4,921 institutions.

Register now