The Human Genome: A User's Guide

Nine years after the successful decoding of the human genome, much of the public are still unsure about what to do with genetic information when those data become available, noted Margaret Anderson, executive director of FasterCures and moderator of a panel at last week's Milken Institute Global Conference. Anderson kicked off the discussion by asking panelists to outline key chapters, as if writing a user's guide to understanding the human genome.

George Fisher, an oncologist and director of cancer clinical trials at Stanford University, outlined the first chapter, calling it: User Beware. He said that the technology before us could be a powerful tool if it's well understood. He said that before patients and consumers get into the data, they need to understand why they bought the genetic screening test and what kind of information they wish to know and acknowledge that genetic information can be quite complicated.

Agreeing about the complexity and ubiquitous nature of genetic information, Caroline Lieber, genetics counselor at Sarah Lawrence College, said that the next chapter should focus on how information is disseminated from consumer to provider. "Consumers need a clear understanding of this information and should seek out genetic counselors to help translate the data, and offer their insights in a meaningful way," she said. She also noted that one of the best tools readily available to help understand genetic information is family history. Sometimes, she said, you can save more lives and prevent more diseases by asking for a detailed family history.

Gwen Darien, a patient advocate and member of the board of the Education Network to Advance Cancer Clinical Trials reminded the audience that it's critical to take a step back and assess the baseline level of a consumer's understanding. She proposed that the third chapter focus on educating consumers about the science of genetics. "Most people's knowledge about science stops the moment they stopped studying it in school," said Darien.

Chris Varma, president and CEO of Blueprint Medicines, said the last chapter of the User's Guide should focus on opportunities and challenges, noting that the cost of sequencing a genome is a "huge paradigm shift." In 2001, it cost $100 million to sequence a human genome, and today the Beijing Genome Institute can apply the same methodology for $1,000. He said that the challenge in front of us is to simplify this information and help clinicians understand the possibilities. And all this information presents us with tremendous opportunity to improve our understanding of disease to better manage it.

Fisher added that with the healthcare system we have, today's physician is neither positioned nor equipped to provide the counsel necessary to make genetic information meaningful. Panelists agreed that there's a lot of ambiguity. But as these tests become more available, providers and genetic counselors must step up to the task of managing this information to improve health outcomes and better predict disease probability.