Scripps Study: When It Comes to Genomics, Consumers Can Handle the Truth

By Kevin Davies  

 January 13, 2011 | An important new study on consumer reactions to comprehensive personal genomics testing suggests that vast majority of subjects receiving genome-wide results are comfortable with the experience.  

The report, from Scripps Genomic Medicine investigators Cinnamon Bloss, Nicholas Schork, and Eric Topol, was designed to study the clinical, psychological and behavioral consumer genomics testing. It is published in the latest issue of New England Journal of Medicine.  

“The negativism surrounding consumer genome-wide scans has been so profound, almost to the point of animus, against these tests, that it’s nice to see we have a large body of data to neutralize that negativism,” said Topol, who called it a “very ambitious study.”  

“The fact that Navigenics, partnering with Scripps, has a New England Journal publication over this is an incredibly important, groundbreaking step for the field,” said Navigenics CEO Vance Vanier. “[It] overcomes a lot of the mythology out there around potential consumer fear and anxiety.”  

[Navigenics provided the genotyping tests, which analyze 500,000 SNPs, for the study. Unlike 23andMe, Navigenics no longer offers its genotyping service directly to the consumer, but in concert with physicians or corporate wellness programs.]  

Beginning in October 2008, the Scripps study, which Bloss calls “Topol’s brainchild,” enrolled more than 2,000 subjects who received personal genomics genotyping results on 20 different diseases from Navigenics, and who also submitted follow-up data within about five months after receiving their data. It represents arguably the first study examining the psychological impact of genome-wide profiling, rather than assessing the behavioral effect of a specific gene test, such as the REVEAL study, published by Robert Green and colleagues in 2009.   

Fear and Genotyping  

“The findings were quite unexpected in some ways,” said Topol. “There was a lot of fear about genomic testing across 20 different diseases, and there was a concern that the subjects who participated were going to be in a fretful and highly anxious state.” That fear wasn’t just the angst expressed by certain voices in the bioethics and medical communities, but among some of the subjects themselves. As Bloss and colleagues reported last year, nearly 50% of the individuals approached to enroll in the study expressed some reservations about the prospect – although most went on to take the test.  

“It turned out they were fine,” said Topol. “There was no evidence whatsoever of psychological problems.” The figures showed that 90% respondents did not experience any anxiety or other forms of distress.   

More than one in four participants consulted their physicians about their genetic data, and according to Topol, “they did the best with respect to adopting healthier lifestyles.” In a number of cases, subjects learning they had an increased risk of colon cancer were prompted to undergo a colonoscopy.  

On the other hand, and somewhat more sobering, Bloss and colleagues didn’t observe any significant lifestyle changes for the better across the entire group within the first few months, such as dietary fat intake or exercise regimen. That could change over time, of course. “We may see significant changes in their lives after a year or so,” commented Schork.  

Vanier says he was particularly interested in the subjects who consulted their doctors, because “they’re the ones much more likely to undergo lifestyle changes in diet and behavior, which has been a holy grail for physicians . . . We’ve always felt that personal genomics is at its best when supported by some sort of healthcare professional or integrated with a wellness program. This group of participants gives us an early glimpse of the potential of that.”  

From Vanier’s standpoint, a disappointment was the low (10%) uptake for Navigenics’ complementary counseling service. “We felt that was much too low,” he said. Navigenics is now pursuing a more active outreach program, and is seeing an increase in the numbers of counseling sessions.  

A concern moving forward is that, according to Topol, “only 10% of physicians feel comfortable offering guidance with genomic data. So we have a mismatch. This is something we’ll have to deal with in the future.”   

Boston University/Harvard Medical School medical geneticist Robert Green, director of the REVEAL study, said the Scripps study is important in showing that participants “were not unduly anxious about the results.” Green was also pleased to see that participants did not “overtax the medical care system with unnecessary surveillance.” But he cautioned that the Scripps study participants are likely to be “health-conscious early adopters and these results may or may not hold as personal genomics spreads more fully into society."  

Green and colleagues will shortly embark on a National Human Genome Research Institute-funded study to examine the health effects and behavioral impact on consumers of personal genomics information from several companies. While the risk information on common disorders does not dramatically impact individual risk at present, he said, this could change as personal consumer genomics firms begin to disclose recessive mutations or rare, highly penetrant variants. 

“One thing I was struck by was how many op-ed pieces were out there with almost no data,” lead author Cinnamon Bloss told Bio-IT World a few months ago. As to her opinion of the merits of direct-to-consumer testing (as offered by 23andMe) versus the more structured approach favored by Navigenics, Bloss said: “I wouldn’t say I’m strongly on one side or the other – which is probably good because I’m the one doing the analysis!”  

It should be noted that Bloss’ analysis, as the REVEAL study before it, was published in the New England Journal of Medicine. Just three years ago, shortly after the introduction of commercial consumer genomics testing, the Journal’s editor, Jeffrey Drazen, along with David Hunter and Muin Khoury, penned a blunt editorial suggesting that consumers were better off joining a gym than shelling out for a spit kit.