Pathologists and medical laboratory managers will want to stay informed about how genome sequencing data is being translated into clinical applications
There is a vigorous debate unfolding about the ability of personal genome sequencing to reliably predict disease. That is not news to pathologists and clinical laboratory managers. What is a novel twist in the arguments by both sides is whether media coverage has the potential to undermine public support for genomics and personalized medicine.
For example, one media story on a study of the power of personal genome sequencing to predict disease drew fire from some genomics experts on two counts. First, they questioned the validity of the study. Second, they fear that such coverage by the media could weaken public support for genomics and personalized medicine.
Public Perception of the Value of Genetic Testing
During 2012, The New York Times published a story on a study by Johns Hopkins University that sought to determine whether genetic testing can predict future disease. According to the results of this particular study, it cannot.
Some noted genomics experts took the Times—and the study—to task. One is Ronald W. Davis, Ph.D., Professor of Biochemistry and Genetics at Stanford University School of Medicine. Davis is Director of the Stanford Genome Technology Center.
In a commentary published online at Forbes.com, Davis claimed the study was flawed. He expressed concerns that the results are potentially misleading with regard to the value of genetic testing and personalized medicine.
“The biggest problem with that much-criticized study was that most experts in the field, myself included, never…imagined that DNA alone could reliably predict the development of most diseases,” stated Davis. “But the emerging consensus in our field is that if combined with information about a person’s lifestyle, diet, environment, and medical history, genomics will enable doctors to treat disease much more effectively and in some cases even prevent it.”
Critics Say Gene Sequencing Study Rehashes Old News
It was last spring when a group at Johns Hopkins published a paper online in the journal Science Translational Medicine. In their study, the researchers used a mathematical model to analyze data from 53,666 identical twins within the context of data on 24 diseases. They looked at how often one twin, both, or neither got a disease. Their results showed that genetics are not predictive of future disease.
In a blog post at Nature.com, science writer Erika Check Hayden made several criticisms of the study. She noted that the study failed to include any genome data, produced results that are already known, and used an unrealistic mathematical model. Furthermore, she pointed out that media coverage of this study could weaken support for genetic research.
“The problem with this approach, statistical geneticists say, is that it uses flawed data to test unrealistic assumptions,” Hayden blogged. Moreover, she noted that “the new study has received more press coverage than your run-of-the-mill statistical genetics paper, and geneticists are concerned that the coverage has overblown the study’s conclusions in ways that could harm public support for science.”
In the Forbes story, Davis suggested that the Times article and the study try to “downplay the opportunity in genomics and personalized medicine.”
Davis is not alone in his concern. “I worry about the message being distorted to mean that genes have no value, or that genetic research is not worthwhile,” stated Leonid Kruglyak, Ph.D., a geneticist at Princeton University, in the Nature blog.
“Let’s fast-forward a year or two, when we’ve sequenced a million or two million people in whole-genome sequencing studies,” challenged Eric J. Topol, M.D., a cardiologist and Chief Academic Officer at Scripps Health. “Then let’s see whether or not the predictive capacity is limited, or limited for certain conditions but not others.” Dr. Topol is also Director of the Scripps Translational Science Institute and heads Scripps’ genomic medicine research. His quote also appeared in the Nature blog.
Benefits of DNA Sequencing
According to David Altshuler, M.D., Ph.D., Professor of Genetics and Medicine at Harvard Medical School, the real benefit of studying the human genome is to understand how diseases occur so better therapies can be developed, the Times reported. “Even if you know everything about genetics, prediction will remain probabilistic and not deterministic,” Altshuler stated. “We want to use genetics to pry open the black box of how disease works.”
Do pathologists have an interest in this debate? The answer is probably “no” on the question as to whether media coverage of newly published human genome sequencing studies has the potential to shape public opinion. The answer is probably “yes” on the potential of human genome sequencing data—in association with other information about the patient—to be a useful tool in both diagnosis and the selection of appropriate therapies.
—Pamela Scherer McLeod
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