The Scripps Translational Science Institute announced last week that it is joining forces with Navigenics, Affymetrix, and Microsoft on a 20-year study investigating whether arming individuals with their personal genomic information will motivate them to make preventative lifestyle changes or seek medical care.
The study aims to enroll 10,000 participants from within Scripps Health, a $2 billion nonprofit community health system based in San Diego, by offering genome scans to its employees, families, and friends.
As part of the project, study participants aged 18 and older “can receive a scan of their genome and a detailed analysis of their genetic risk for more than 20 health conditions that may be changed by lifestyle, including diabetes, obesity, heart attack and some forms of cancer,” STSI said in a statement.
Affy, Navigenics, and Microsoft will provide funding for the study, estimated to cost $20 million over the next few years. Meanwhile, Scripps holds the rights to conduct independent analysis of and publish the study data.
The study comes at a time when at least three companies, including 23andMe, Navigenics, and Decode, are peddling directly to consumers information about their genetic risk for certain diseases.
Some have lauded such DTC personal genomics services for their goal of empowering patients, while critics claim the resulting data can be harmful because the ability to accurately connect genetic information to disease is in its infancy.
And researchers have found that results from single-gene-based risk-assessment tests do not always motivate individuals to alter their lifestyle [see PGx Reporter 03-26-2008].
But unlike previous behavioral studies, Scripps’ study, which will rely on whole-genome scans, will follow a much larger population and for a longer period.
"Genome scans give people considerable information about their DNA and risk of disease, yet questions have been raised if these tests are ready for widespread public use," Eric Topol, director of STSI and principal investigator of the study, said in a statement.
As part of STSI’s study, Affymetrix will provide its SNP Array 6.0 to scan each participant's genome for 20 disease-risk genes. Navigenics will interpret the results and offer genetic counseling to study participants.
After receiving the genome scans, study participants will be asked to self-report their subsequent lifestyle changes at 3- and 12-month intervals through an online questionnaire. Researchers will continue administering surveys to study participants periodically for the next 20 years in order to monitor the long-term behavioral impact of genome scan data.
The Scripps Genomic Medicine program will ultimately assemble a database of this information. However, along the way participants in the study will be able to enter and store their genomic and lifestyle information in a secure HealthVault account provided by Microsoft.
Participants’ answers to self-reported health-assessment questionnaires will be anonymized, encoded, encrypted, and kept in what Scripps said will be a secure database. However, people partaking in the study will be able to give their doctors access to the information in their HealthVault account if they choose.
Topol, formerly the chief of academic and cardiovascular medicine at the Cleveland Clinic, discussed the details of STSI’s study with Pharmacogenomics Reporter this week.
Below is an edited transcript of the interview.
Some studies have found that people armed with genetic information conferring disease risk do not necessarily make lifestyle changes. And yet there are several personal genomics firms that have launched expensive direct-to-consumer testing services betting that genomics will motivate people to make better lifestyle choices. Going into this study, how do you think people use genomic information to make lifestyle decisions?
We are doing a pretty comprehensive sweep across the most common diseases. And the effect of knowing genomic data on people’s lifestyle, on their psychological profile, it has never been studied, yet. The only things that have been studied in the past are isolated genes, for example, the colon cancer gene and the BRCA1 breast cancer gene. But no one has ever studied the [behavioral impact] of a genome-wide scan. So, that’s a completely unknown territory.
The hypothesis is that people knowing their genomic data will lead to improvements in their lifestyle and appropriate medical screening and diagnosis, and without undue anxiety. We’re obviously testing it over a large population, over a long period of time, with continual updates of genomic information as it becomes available.
Those who say that DTC personal genomic services are not ready for broad use often argue the information will cause undue anxiety. Have you seen in your experience that those who learn their genomic risks experience more anxiety?
No, we haven’t seen that at all. But that’s what we’re going to validate with very rigorous study. At least in early going, there might be an occasional individual who is anxious temporarily until they understand the situation better, but we haven’t seen any durable problems with anxiety or depression or any adverse behavioral effect. We haven’t seen that, but obviously that needs to be studied.
There have been reports that depending on the services you use — Decode, 23andMe, or Navigenics — that your genetic risk results might be different. Why did you decide to go with Navigenics and how do you plan to address this issue of varying results?
Well, we’ve checked all three [companies’ services] and we’ve done comparative studies, and we haven’t seen any significant differences. Navigenics is most comprehensive in terms of reporting as many medical diagnosis as are out there, including Alzheimer’s. 23andMe doesn’t report on Alzheimer’s. But all three of them are actually are pretty darn close in most of the diseases that they do report on. We have not seen any disparities that are notable. So, that’s not a concern.
Any specific reason why you went with Affy’s genome scan platform?
Affy’s platform is the most comprehensive platform, [looking at] the 1.8 million SNPs and copy number variance. And Navigenics has been the one company most geared toward medical reporting of the data, with extensive evidence-based review of the SNP information. Going through the alternatives, this appeared to be the best shot.
When will the study start and how often do you plan to report results?
It has already started. We have well over 1,000 people enrolled in the first few days, and we hope to get 10,000 in the next several weeks and we will follow them for 20 years. The first reporting will be in three months after people get their genomic data in January. So, somewhere around May we should have our first report out on the three-month response to lifestyle, psychological profiling, and medical screening, testing, and diagnosis.
Do you thing that in recruiting participants for the study among Scripps employees and their friends and family you will be able to enroll a diverse cohort?
The Scripps Health system has a very diverse population, well-representative of Asian, African, Native American [groups.] So, we are a pretty darn diverse group. But it’s a health system base, so there is a skewing there. Also, people who get a genome-wide scan, that’s a particular group of people. That’s not everybody. Some people would shun this sort of thing. We recognize, as in any clinical study, the people who are enrolled are different than the real world. But, at least in so far as ancestry, it is very diverse and well represented.
What 20 diseases will you be looking at for genetic risk information?
The number of diseases we will scan for will be expanded, but it’s all on the Navigenics website. It’s going to be about 30 disease in a few weeks. So, the number of diseases will be markedly expanded by the time these first individuals get their first reports.
Some have noted that for many of the diseases for which genetic risk associations are available, there is nothing medically that can be done to prevent, treat, or cure the disease. When you picked these conditions, did you consider whether these diseases were medically actionable?
That’s the whole point. We’re going to find out what action is taken. People can talk all they want till the cows come home. But now, we’re going to find out what is medically actionable and what is not. It’s circular reasoning to say it’s not actionable until you study it.
Do you think that as it stands now DTC personalized genomics services are ready for prime time?
‘Prime time’ is kind of an odd term in the medical science world. I’ve had many patients who have had these tests, and for some of them, it has been very helpful. On a selective basis, these tests are certainly available and for certain individuals they really derive a lot of comfort or give them the feeling that they are the early adapters to a new information base. For the most part, for broad use, if it’s a study like this to help validate their utility, and that’s what this is all about. It’s early, it’s not even been a year since these [personal genomic services] were introduced, these are really research grade instruments. But over time, we will be able to determine if they are validated and ready for broad recommendation and acceptance.
Right now, it’s probably early on a wide [use] basis. On a limited [use] basis, there are certainly individuals getting these tests done and some of them appear to be benefiting in terms of taking better care of themselves and having diagnoses and screenings that they might not have otherwise pursued.