Andrea Downing Beyond Awareness, BRCA, Data Sharing, ePatient

We need a BRCA Commons.

There was a time not so long ago when the best minds in the world were debating over whether the whole human genome could be patented by one company.  And I’m not talking about the 2013 Supreme Court Case.

Here’s the story…

Once upon a time back in the nineties, geneticist Craig Venter worked on the Human Genome Project, which was the first ever attempt to understand and map the human genome.  Craig was frustrated with the progress and cost of the publicly funded project to sequence the human genome – and so he started Celera Corporation with backing from private investors.  Not only did Celera end up winning the race to sequence the human genome before the Human Genome Project — they did so with a fraction of the cost.  That’s when things got interesting and complicated.  Celera Corporation’s business model was originally to license their database of genomic sequence information – including any mutations they found – to pharmaceutical companies and researchers for a cost.  They wanted the entire human genome to be Celera’s trade secret.

This thoroughly freaked out everyone who had been working on the slower, but more expensive Human Genome Project.  Tensions between the public and private corporate interests of the genetics world continued for months until the government stepped in and proposed they sort through all of the confusion.  The solution?  The government sent all of the scientists involved from around the world to Bermuda to sit on the beach for 48 hours to hash out an agreement.

The result was the  The Bermuda Principles.  The Bermuda Principles were basically an international “treaty” between public and private interests in genetics.  In those 48 hours on the beach in Bermuda, these scientists hashed out three key principles that basically said (and I’m quoting Wikipedia here):

1.  Automatic release of sequence assemblies larger than 1 kb (preferably within 24 hours).
2.  Immediate publication of finished annotated sequences.
3.  Aim to make the entire sequence freely available in the public domain for both research and development in order to maximise benefits to society.

Anyone interested in reading more about it should check out this book (which I just started reading!).

Fast forward to today.  There is a coming tsunami of gene sequencing technology, and it’s both exhilarating and terrifying as we think about the implications for those of us who carry hereditary disease risks in our families.  Case in point, the $1000 genome is finally here.  This doesn’t mean that we can all go out and interpret our genomes for the price of a macbook, but it’s a good frame of reference to compare how much less it costs to analyze and interpret a patient’s genetic information.

Can we learn our lessons from the past?

 

I certainly hope we can learn from the past!  For the moment, we are facing that same tension between public and private interests, and we seem to be repeating history.  With this in mind, I’m wondering how we can think back to the early days of the Human Genome Project and figure out how to protect individuals who want to help move cancer research forward, while learning how to share big data ethically.  This is where we are today….

Our community’s genetic data is a still trade secret.  We have been particularly abused and exploited a private company who turned our genetic variant data into a commodity.  This is a big problem, even after last year’s landmark Supreme Court decision that made human DNA ineligible for patent, and almost two decades after the Bermuda Principles were established.  Legal fights over who owns the right to use the BRCA community’s genetic data still linger – only now the stakes are much higher.   Why is this still such a struggle?

Companies are seizing opportunities to ‘disrupt’ this space, and my hope is that those companies contribute information back to a BRCA Commons in return….because the BRCA community is more than just another market to be cornered.  Our lives and futures are at stake. 

How do we get there?

The idea of a legal commons is nothing new.  Not sure what it means to have a commons? Think about how Wikipedia works – and how you use it as a resource to search for information.  Imagine what your world would be like if we couldn’t easily search on the information in Wikipedia, and instead we had to pay to use such a resource.  Building a legal commons means that anything that touches the community is shared, and no one claims dibs on the right to charge others for the information.

The commons already exists in genetics.  We have a responsibility to make sure information is in the commons because for our community, this data is more than an abstraction.  The goal is saving lives by finding smarter ways to screen for, treat, and prevent hereditary breast and ovarian cancer.

By the way, it’s worth mentioning, there are already commons resources our there for genetics and BRCA.  Here are three resources in the US, but there are many others worldwide:

These resources have an immense amount of potential to create better options for the BRCA community. The challenge with these resources are getting researchers and diagnostic testing companies like Myriad to contribute patients’ genetic variants. In 2005, Myriad deliberately adopted a policy to stop contributing variants to these public domain research databases. And they have been in violation of the Bermuda Principle ever since.

Why do we need to remember the Bermuda principles, and build up the existing commons?

A BRCA Commons lowers the cost of healthcare.  If our genetic variants were in the commons, biotech companies would focus on better, faster, more affordable and efficient diagnostic tests for BRCA. One way for us to end this data hoarding is to appeal to insurance companies to only cover diagnostic testing where data is shared ethically.  This could be done through legislation (less preferable), or by showing insurance payers who cover the costs of our test that they can adopt policies to contributing to a BRCA commons and in turn lower the cost of testing.  Case in point, CMS and Medicare are already proposing to lower the amount they will reimburse for the test.  They did this because they realize that genetic data testing companies who hoard the data are ratcheting up the price for the test.

A BRCA commons will accelerate innovation.  If you think I’m talking like a crazy data hippie, take a look at the concept of Startup Commons Silicon Valley, the world of Music and Film, and even Fashion.  Many entrepreneurs in technology understand that they are part of an ecosystem where they must contribute to a commons in order for that ecosystem to flourish.  Please don’t think that contributing to a commons in biotech equates to philanthropy.  Rather, it’s the recognition that we all belong to a community that requires a balance between all things public and private.

A BRCA Commons can save lives.  But you don’t have to take this from me.  Take it from my friend and fellow BRCActivist Kathleen Maxian, whose family had a clinical variant with known significance that needed to be shared in a Commons, and included in the genetic test that her sister took.  Here is her story.  She has advanced stage ovarian cancer that could have been prevented.

A BRCA Commons will help patients make better, more informed decisions.  Women who find out that they carry a genetic predisposition to breast and ovarian cancer are just the tip of the iceberg in personalized medicine.  When looking at they ways in which gene sequencing technology will help to improve personalized medicine, it’s important to remember that genetic risk is all based on data from a wide distribution of people.  If we aren’t sharing data from different labs who are studying BRCA, we don’t have an accurate picture of our risk.  We just have part of the picture…and we’re left to make difficult decisions based on less-than-perfect information.

The BRCA community learned the hard way how intellectual property can harm patients.   This is why I have started to believe more and more that anything touching our community should be part of a legal commons.  But don’t confuse this with philanthropy.  A nonprofit model doesn’t always bring us the innovation needed to provide sustainable options to screen for, treat, and prevent cancer.  We need a commons so that we are accelerating innovation in technology, and the industry is expected to contribute back to our community.  Something feels broken in the current system – and maybe the solution is somewhere in between.  This starts by putting patients – and our access to our data – at the center of medicine in a way that protects the individual.
Our community doesn’t need the outside world to save us from ourselves – we want to tell the story of how the BRCA community can be empowered from within by understanding the data that flows back to us.  We need to honor the individual patient who contributes to research, and we need to set a precedent for ethical data sharing practices.  I want for companies and nonprofits to realize that they are embedded in a bigger picture, and it’s important for us to keep from repeating the mistakes of the past.