Did journalists overstate the promise of the human genome project?

 Note that in the Nature Network Boston report on Tuesday’s panel on the human genome project, Broad Institute chief Eric Lander says that journalists naively reported that the genome map would rapidly lead to cures for many diseases.  

 Lander said that expectations for the impact of the research were  “fabulously naïve. Journalists wrote about how we were going to have drugs for all these disease in the next decade. Somebody was smoking something. This was just nuts.”

They say journalism is the art of verification. So we went back to try to find some of these stoner reporters and their overblown claims by reviewing reporting in The New York Times and USA Today. 

Although the paper on the research was published in 2001, the results were announced in the summer of 2000 at a White House press conference. A June 27  NYTimes package entitled ”READING THE BOOK OF LIFE: A Historic Quest; Double Landmarks for Watson: Helix and Genome” seemed pretty measured: 

The human genome project may be the gateway to the biology and medicine of the 21st century…

Identifying the genetic variations that predispose people to diseases like cancer, diabetes and schizophrenia was a major purpose of the Human Genome Project…

Even incomplete, the databases of DNA sequences are a treasure trove for researchers, providing answers in a few minutes at a computer terminal rather than after months of laborious, expensive laboratory experiments. For pharmaceutical companies, that speeds the development of new drugs with several promising compounds already undergoing human clinical trials.

For university researchers, that opens up areas of inquiry that would previously not have been worth the time and effort.

More than a year later, on December 25, 2001, a Times update read:

With the Human Genome Project — the effort to work out the sequence of the three billion chemical letters that embody human heredity — nearly complete, biologists are facing a daunting transition.

They must move from their traditional pursuit of understanding one gene at a time to the challenge of figuring out how tens of thousands of genes work in concert in the human cell.

Should they succeed, in 20 years it may be possible to compute the behavior of a cell, perhaps of a living organism, and to calculate how changing one unit of DNA may affect human health or performance.

 Now, here’s a little hyperbole, but from a scientist, not a journalist. Granted, the reporter chooses who to quote.

…Dr. Richard Lifton of Yale predicted that in 20 years researchers would be ”able to identify the genes and pathways predisposing to every human disease.” A panel of biologists led by Dr. Michael Snyder, also of Yale, said that in two decades they would like to know the effects on the organism of the smallest possible change in the genetic programming, the switch of a single unit of DNA.

Here’s how USA Today reported on the genome map on June 23, 2000:

Generations of scientists will spend most of the next century interpreting the code’s meaning and learning to play it on computers in increasingly complex ways that they believe will lead to treatments for most, if not all, human diseases.

 The genetic code also will launch a mammoth growth industry and marry the new darlings of Wall Street: computer technology and biotechnology. Scientists from the public and private projects predict that the information contained in the genetic code will allow them for the first time to study the interactions of many different genes involved in
complex diseases such as cancer and heart disease and to develop drugs that target these diseases at their most fundamental root levels.

Were they generating this hype or just reporting it? And, is there any difference? Here’s more from that story:

(Francis) Collins, the U.S. leader of the international Human Genome Project, are expected to announce the completion of their projects at news conferences Monday in Washington….

“Achieving this milestone is an exhilarating moment in history, and a credit to the ingenuity and dedication of some of the brightest scientists of the current generation,” Collins told USA TODAY. “Even more importantly, it brings us a major step closer to understanding and better treating a host of diseases for which genomics offers the best hope of prevention and cure.”…

Some predict the expected health benefits will beginto appear with regularity in about 10 years.

“We will see an increasing proportion of gene-based medicines coming to the market that are targeted to the disease process,” says Paul Herrling, director of global research at Novartis Pharmaceutical Corp. in Basel, Switzerland. “Many traditional therapies address the end stages of disease. These new therapies will address the disease process, so if a person has Alzheimer’s disease or diabetes, we will develop medicines that stop or slow down the disease process.
Having the human sequence is just the beginning.”

 And, do note that Lander was the first author in the  actual paper on the findings, which was, published ten years ago in Nature, concluding:

The scientific work will have profound long-term consequences for medicine, leading to the elucidation of the underlying molecular mechanisms of disease and thereby facilitating the design in many cases of rational diagnostics and therapeutics targeted at those mechanisms.

Finally, Lander made a bold prediction of his own at Tuesday’s panel:

He cited ” an explosion of work that will culminate, I think in the next five years, in a pretty comprehensive list of all the target that lead to different kinds of cancers and give us a kind of roadmap for finding the Achilles heel of cancers for therapeutics and diagnostics.”

 

BHN report: Hackers, health and the Boston Code-a-thon

Sometimes,  hackers have to work on meaningless problems in windowless cubicles. But on Saturday, a group of number crunchers and tech enthusiasts gathered at Microsoft’s sun-soaked Cambridge offices to find new ways to use health data.

Last week’s “code-a-thon” was the latest “Developer Challenge” hosted by a Health 2.0, a group that organizes conferences around the rich possibilities at the intersection of data, technology and health.

Here’s how Health 2.0 puts it on their website:

Healthcare has big challenges. And technology might not solve them all. But we believe in progress one app at a time. Have a technical problem that needs working out? An app you wish existed? Data that’s sitting on the shelves getting dusty that could be made more useful?

In other words, hospitals, insurers and policy makers have been capturing huge amounts of health data and mining it for years. This effort aims to use that information — much of it in public data sets– for more than claims analysis, and utilization review. With the rise of mobile communication, do-it-yourself science and the quantified self, it’s time to let the hackers at it.

So, with the sponsorship of DIY magazine “Make,” the event attracted about a 100 people, including programmers, web designers and wired epidemiologists. Sitting with his laptop open in an airy space overlooking the Zakim Bridge, Jason Morrison said he is a big fan of gatherings like this one. A web developer for a Boston company called thoughtbot,  he finds it satisfying to work on health problems.

“It is a very ripe field for people to come in and use all this data and then turn it into information and knowledge people can use,” Morrison said. Ideally, the event would produce “actionable” tools that people can use to change their behavior or find information on treatments they might be interested in, he said.

At the end of the day, coders were expected to regroup and present their ideas. Click here for a link to Health 2.0 news site to find out who won.

In this video report, Morrison (in the black jacket) and others talk about what brought them to the meeting.  Postdoc Rumi Chunara of the Children’s Hospital Boston made a presentation on using HealthMap for real time epidemic surveillance.  Psych resident Daniel Karlin wants to track prescribing trends and Bio-hacker Mac Cowell, of DYI Bio Boston, talks about inventing a home PCR kit for those interested in DIYgenotyping.

Neuroscience, music and a Boston symphony of health care workers

Nature Network Boston reports on this weekend’s Saturday’s meeting: “Crossing the Corpus Callosum II: Neuroscience, Healing & Music.”

The Longwood Symphony Orchestra is named for the Boston medical mecca that is second home to most of its musicians. Doctors and other health care workers from Longwood Avenue hospitals and clinics are interested in the symphony not just as musicians, but as scientists.So, in addition to offering concerts, the organization sponsors medical meetings. More here.

BHN Reports: Gawande on reform — “All health care is local.”

The notion that “all health care is local” may sound odd coming from someone who has been deeply involved in health reform at the national level.

But Boston surgeon and New Yorker writer Atul Gawande made the case for locally driven reform this morning at a health care quality colloquium at Harvard.  Communities, he said, need to find ways to create working systems out of the complex, fragmented elements of medicine.  

 “Our deepest struggle in medicine in this wake of health reform –we can imagine that it is money or the rules and regulations that exist or yet to come down,” he said. “But if you watch the day to day experience of what it is to take care of people, you realize that the deepest root of our struggle is the complexity of what we are trying to pull off. “

Health care workers are surrounded by tests of their ability to handle the complexity that comes in the form of 13,600 diagnoses, 6,000 drugs and 4,000 procedures.  And, he said, they are trying to do it within a system that was built for a world that had fewer, simpler solutions.

The system evolved in another era when medicine was “small, fragmented and artisanal in nature,” he said. “But the volume and complexity of our discoveries has now reached  a point where it has exceeded our ability as individual artisans to deliver optimal care reliably, safely and without the waste of resources.”

He used the advent of penicillin to make his point. Penicillin seemed like a miracle, he said. It could cure diseases that seemed incurable.

“It was so simple,” he said. “It was just an injection. And it made us imagine that this would be the future of medicine. We were fooled. It made us think that discovery was the hard part and execution would be easy.”

He compared the current execution to a poorly built machine with great parts. The fee for service system has “made us almost giddy in our use of high tech services” at the expense of low profit services like geriatrics, mental health and preventive health.

But, Gawande said that he sees solutions in his reporting on cost and practice pattern variations. The highest costs systems don’t always provide the best care, he said.

“That means there is hope,” he said. “It means that there is something to be learned from what we are doing to make quality and safety better in ways that actually reduce costs.”

 Gwande spoke at the National Quality Colloquium,  which is being sponsored by the Jefferson School of Population Health at  Thomas Jefferson University in Phildelphia.

BHN Report: Massachusetts health costs hearings

The Commonwealth is getting serious about health care costs. Increases are unrelenting and over the top.

In Massachusetts, health costs are rising at three times the rate of wages, according to testimony below. Rising prices are eating away at company profits, family savings, worker’s wages and public health programs.  

Studies, bills, hearings. Will we get action?

See the Globe’s reporting on the ongoing hearings on health costs and the push toward global payments. Instead of paying per procedure, global payments cover costs per patient. The idea is to encourage quality instead of overtreatment.

The testimony continues on Thursday and Friday. The state is streaming the hearings live and posting copies of speaker statements.

BHN caught the end of Monday’s testimony, which came from Harvard Professor Nancy Turnbull and a panel of consumer groups. Below find some unedited audio from the panel, which was called “Consumer Experiences with Health Care Cost Trends.”

Nancy Turnbull, Senior Lecturer on Health Policy and Associate Dean for Educational Programs, Harvard School of Public Health.

“In Massachusetts, health insurance premiums are increasing faster than income, which is creating a crisais of affordaility for individual and families.”

• Audio
• Written testimony

Cheri Andes, Lead Organizer, Greater Boston Interfaith Organization

“GBIO believes that this trend of out-of-control health care costs is a moral issue as well as an economic one.”

•  Audio
• Written testimony

Robert Restuccia, Executive Director, Community Catalyst, Inc.

• Audio
• Written testimony

Matt Selig, Executive Director, Health Law Advocates

“In our work with individual clients we find that consumers still consistently face the burden of out-of-pocket health care costs aside from premiums, deductibles and copayments.”

• Audio
• Written testimony

Deborah Banda, Massachusetts State Director, AARP

Written testimony

Finally, the March Madness review of the Health Wonk Review is up. I live with a couple of Tar Heel fans. So, with the the boys’ team out,  our motto here is — Go Big Red!  The Yankee half of the family has Cornell links.