World Science Fest 2010: Our Genomes, Ourselves

The World Science Festival brought three leaders in the field of genetic medicine together on June 10th for an event that provided the packed auditorium with the feeling of just having sat in on an intimate discussion between friends like George Church, Francis Collins and Robert C. Green. Richard Besser moderated the conversation, "Our Genomes, Ourselves," which, dug into the key themes, questions, opportunities and barriers surrounding the promise of Genetic Medicine.

So, while Francis Collins, the current Director of the National Institutes of Health, cracked up the audience and his fellow panelists, and we learned that all three panelists can sing (singing along with Adam Cole’s live performance of his A Biologist’s Mother’s Day Song), we also found out that very little of the genetics that is known today will provide any yes or no answers about our health in the future. And, to be informed health consumers and to make use of our own genetic information, we better learn statistics.

The state of genomics today

The experts set the stage by defining the genome as each person’s genetic make-up. As Francis Collins put it: the genome is the “instruction book for you.”

He noted that this month marks the 10th anniversary of the publication of the rough draft of the genome. A great deal has been discovered since then, and the pace of research means that today’s genetic analysis might be out of date tomorrow. When reviewing your genome, keep in mind that there is a great deal of variability in how genetic data is interpreted. Physicians and Direct-to-Consumer (DTC) companies on the frontlines of providing personal genetic analysis use different algorithms to process and interpret genetic data.

While a lot is known, our knowledge is still incomplete. Genetic information is not yet affecting most medical or health decisions. But check back in a few years, as breakthroughs are expected.

Learn statistics

Because there are so many genetic variants and so many ways genes can affect our health very little of what is known today gives a clear answer about our future health. Because of the complexities genetics can be thought of as “risk genetics.” It’s about probabilities. So, before you have your genetic profile analyzed – learn statistics.

Technology

George Church’s research is contributing to the pace of technologic advances reducing the costs to decode a genome so the $50,000 of four years ago is now “as little as $10,000.” [I don’t know about you, but that’s an awful lot to me!]  

So, the consensus is that a less expensive genome is coming, but then what? It’s not all about the code, but also about decoding the code! Trying to figure out the meaning of 6 billion base pairs is so labor intensive that Robert Green explained that we might be in a situation where we have the “$100 genome but a $1 million interpretation.”

What’s actionable (and what does “actionable” mean anyway?)

The promise of the genome is that someday we’ll be able to interpret the information in a way that will save lives and improve quality of life. This means that genetic information has to be “actionable.” To the medical establishment, actionable typically translates as prevention. But, if your genetic profile shows a risk for a disease and there is no treatment, why should anyone bother to tell you? There is a debate going on about what information is actionable, and what is safe to tell people. And how about activism, fundraising, and planning for the future... aren’t these also valuable actions?

Is genetic info reliable?

A huge concern to everyone is to make sure that the information health consumers do receive is accurate. DTC companies are providing tests for common variants that cause increased risk of certain diseases like cancer. But, when it comes to serious mutations, it turns out that DTC companies typically only run tests for the most common—not all—mutations. All the panelists agreed that there is a concern people might be falsely reassured by a “negative” report.  Their suggestion: if you buy an analysis from a DTC company and receive a negative result, get a second opinion. These companies are apparently more reliably reporting positive results.

Participatory science

George Church’s Personal Genome Project is about exploring the connections between genes, environment and traits. Would you make your genome public? George Church has. Controversial? Yes. Visionary? Yes. He and the 10 research subjects are pioneering participants in personal genomics.

But is it right for everyone? Not everyone is comfortable sharing personal info in the public domain. This is certainly pushing the boundaries of public disclosure. I’d share my genome. Would you?

If it’s not “actionable” what are people doing?

Robert Green’s research suggests that people can cope well with learning that they are at risk for dire diseases without any known treatment. One reason for this is that they may not pay attention to risk information that an expert tells them. He described a recently published paper entitled, “I know what you told me, but this is what I think.”

What’s needed to get more answers?

People. Research. Funding. To figure out the causes behind our health and medical problems is going to take lots of people willing to share their genome, their medical history, and information about their environment. Finding connections between genes, environments and traits is where we might expect future breakthroughs to occur.

Also, learn statistics. Not just you and me, but the entire health professional community better learn too. And since most of them are woefully ill-equipped to respond to queries about genetic medicine, they have a lot of catching up to do.

Larisa Bomlitz holds an M.P.H. and an M.A. in International Affairs and currently lives and works in New York city, NY.