In offering to genotype people for free as part of a large-scale research study on personalized medicine, the Coriell Institute for Medical Research could pose stiff competition for commercial firms charging a fee for similar services.
When 23andMe lowered the price for its personal genotyping service last month from $999 to $399, citing a desire to “democratize personal genetics” driven by advances in its genotyping technology, industry observers noted another possible reason for the price drop: pricing pressure from the freely available Coriell Personalized Medicine Collaborative.
However, the CPMC’s research project, which aims to study as many as 100,000 people to improve the understanding of genome-informed medicine, is different from commercial firms in more ways than price.
For instance, unlike 23andMe, DecodeMe, and Navigenics, which maintain that their personal genotyping services are just for education and not for medical decision making, the CPMC only reports genomic information that is medically actionable to study participants. For this reason, participants are not given their raw genetic data, and for the time being, interested participants may only participate after coming to an information session at Coriell’s Camden, NJ, facility.
The CPMC is not engaging in direct-to-consumer marketing campaigns or throwing lavish “spit parties.” Instead, the institute is reaching out to potential participants for its study through informational sessions at teaching hospitals, hospital partners, and minority community programs in the Delaware Valley.
Although enrollment has proceeded at a faster rate than expected, in order to reach its target of 100,000 patients, the CPMC will eventually have to move to a sample mail-in option, admits Courtney Sill, director of communications at the Coriell Institute for Medical Research.
Sill spoke to Pharmacogenomics Reporter about this personalized medicine project, and how the institute plans to advance and bring to the people genomic medicine. Below is an edited transcript of the interview.
What is the aim of the research project?
It’s a research study that employs an evidence-based approach to determine the utility of using personal genome information in health management and in clinical decision making. The project also aims to build a cohort with rich genotypic and phenotypic data, with which we can discover genetic variants that may affect drug toxicity and efficacy. Also, the research aims to discover unknown genes that elevate a person’s risk of cancer and other complex diseases.
The CPMC is really a forward-looking collaborative effort. It involves a variety of people, including ethicists, physicians, scientists, genetic counselors, information technology experts, and of course volunteer study participants. Overall, we want to better understand the impact that personalized, or genome-informed medicine will have, and we want to guide that kind of ethical, legal, and responsible implementation of it.
The CPMC will enroll 10,000 individuals by the end of 2009. And our ultimate goal will be 100,000 participants.
Do you have an estimate of how long it might take you to enroll 100,000 participants?
I think it’s going to be faster than we realize. We already have 3,000 individuals in the study. We imagined having may be 1,000 by this time. So, we are well ahead of enrollment. Right now, to participate the individual comes to the institute. We also do sessions at some of our hospital partners. To reach the 100,000 mark I believe we’ll have to implement a mail option for the study. … We officially launched the project on Dec. 4, 2007. It was early this year, when we really started hosting information sessions about personalized medicine, about our project, and also enrolling people into the study.
What platforms are you using in your study to genotype people? And if you are using these platforms to look at certain genetic variants, how do you decide which SNPs are sufficiently validated?
We’ve established a multi-million-dollar genotyping and microarray center that is a facility that will perform the genome analysis for CPMC. This laboratory uses Affymetrix GenomeWide Human SNP Array 6.0. That Affy array was really designed to provide broad coverage of SNPs across the entire genome through genotyping 900,000 SNPs. But through that design, SNPs known to have an association with a particular phenotype might not be on the chip. So, we are also going to use custom-designed SNP panels to include disease-relevant SNPs that might not be on the 6.0 gene chip. So, those panels will be analyzed on the Illumina BeadExpress platform.
With regard to the particular SNPs used in this study, we have an external advisory board, called the Informed Cohort Oversight Board. The purpose of the ICOB is to evaluate the medical actionability of health conditions and the evidence of a genetic risk variant’s potential medical acitionability with regard to whatever health condition we’re speaking about. This group is comprised of highly esteemed scientists, healthcare professionals, ethicists, and a community pastor. So, there is a broad range of individuals that sit on this board. They review the medical and scientific literature to identify which candidate gene variants are validated, and thus, what all of us as study participants will receive about our genome.
There are a bunch of these factors to be included. The ICOB will review reports on these variants, they will approve, disapprove, or they will request more information about the variants and conditions. They will review recommendations by the US Food and Drug Administration, Centers for Disease Control and Prevention, National Institutes for Health, National Association for Medical Subspecialties, and other government advisory bodies. Another consideration is the number, size, and quality of studies demonstrating the statistically significant association of a gene variant with a condition. Meta-analyses are reviewed when available. Of course, the seriousness of the disease, the condition, or potential adverse drug response, the magnitude of the effect of the particular genetic variant, and the risks and benefits of clinical or lifestyle interventions to minimize or reduce the risk will be considered. Finally, another thing to be considered would be data elements to then measure outcomes.
We’re really an evidence-based research study. We really want to figure out what information is useful.
The ICOB meets at least twice a year. So, they will approve new variants at each meeting. And that will be added to the web portal, to the list of results individuals will receive. … So, if an ICOB approves a variant, you can read about that and read why they made that decision. But if the ICOB disapproves a variant, you can also read [about] the reasons for that. The point is that the actions of the ICOB and their decisions will be completely transparent.
CPMC doesn’t provide study participants the raw genetic data from their tests. Some of the commercial firms have focused on this point to suggest that through Coriell’s program, participants won’t have access to their own genetic information and will be too reliant on this board as the gatekeepers between them and their genetic information. What would you say in response?
The CPMC is definitely taking a conservative approach by only returning potentially medically actionable information about an individual’s genome. We think that there is quite a bit of education that is needed with regards to complex diseases. Most of the public audience is very well versed in single gene or Mendelian diseases. They know if you have this gene you have the disease. We don’t want an individual who sees that they have a variant that increases their risk of Alzheimer’s or cancer, to walk away saying, ‘Oh my gosh, I have Alzheimer’s gene, I have the cancer gene, I’m destined for this disease, and basically, my life is over.’
A huge part of our web portal is dedicated to education. We really want to make it clear that with these complex diseases there may be a variant that increases the risk for a certain condition. But there are likely other variants in the genome that perhaps the scientific community just hasn’t discovered yet, that might also impact the risks for that condition. Then environmental components are a big impact as well. So, we want to make sure people understand that this is just a little bit more information that they can use in their medical care, and that these results are not destinies.
CPMC is offering the personal genomic testing for free, whereas the commercial firms are charging fees for a similar service. Do you think that this is an area of science through which companies should be profiting? Is the science ready for this to become a business?
I don’t necessarily think the direct-to-consumer model is the appropriate approach to determining best practices for personalized medicine. The reason is that most of America cannot afford to pay hundreds, if not thousands, of dollars for genetic testing. We need to reach all corners of the world for individuals to really benefit from personalized medicine, which will help us determine the best practices for personalized medicine. We not only need to reach those that could afford thousands of dollars of genetic testing, but also those that are in a very minority population who perhaps don’t even have very good health coverage.
So, a big focus of our project is to enroll participants that really reflect the demographics of the Delaware Valley. We’ve presented personalized information sessions to African American churches, we’ve had Senator Robert Menendez into the CPMC to help us reach out to the Latino and Hispanic communities.
We just don’t think that this direct-to consumer approach is a responsible, ethical way of doing this. I just don’t think we’re going to learn enough from that population to be able to nationally implement this kind of healthcare delivery.
The CEO of Decode Genetics, one the companies that offers a DTC personal genomics service, estimates that within the next five to 10 years, every college-educated person in America is going to have a genetic profile done. What do you think?
I would say that in five years, we will likely know a lot more about the genome, if not the majority of what it means medically. So, it is early days in personalized medicine. Of course, the Human Genome Project, [and] the International HapMap Project have really laid the foundation for this type of medicine now. But there is still so much to do. We really only know a small percentage of what the genome means medically today. But I do agree that in five years, we will likely know what most of the genome means. So, there could be a lot more utility at that time. Hopefully, the CPMC does become a national model for how this should be implemented. In that sense, without an individual needing to support the cost of this type of testing, then perhaps most people could have this type of test.
What is the best way right now to educate consumers and physicians about personalized medicine?
There are quite a few barriers right now with regards to the challenge of integrating genomic information into medical practice. Educating medical professionals is likely to be the rate-limiting step. All this information is new … Student in medical schools three years ago probably were not educated in this field just because the field wasn’t quite there yet. There is a huge importance to educate clinicians and other medical professionals in this study, but also generally in medicine.
We’re actively engaging medical professionals in the project as both collaborators and participants. We think it’s really important to work with medical professionals to try to develop these successful strategies to integrate complex genetic information into the current medical paradigm. We’ve established partnerships with Cooper University Hospital, and they have over 550 physicians and 75 subspecialties. We’re working with them to arrange seminars, which will be given by Coriell scientists, with hospital partner physicians, and also with Coriell’s genetic counselors. These would be seminar series that would focus on diseases that are included in the CPMC results. These seminars would also meet the requirements of continuing medical education. This is an attempt to make education accessible to medical care providers. We will also try to post these forums online through the web portal.
We also have collaborative relationship with Fox Chase Cancer Center, one of 39 National Cancer Institute-designated cancer centers. … That’s a wonderful partnership on cancer research. We have a cancer arm to the study in which we will be enrolling breast and prostate cancer patients. So, Fox Chase will be our key partner in that part of the study.
We need to figure out how genomic information can be conveyed in the 12-minute doctor visit. And what kind of information do healthcare providers want to see in genome-wide genetic test reports, and in what context? And what resources and tools are needed by healthcare providers, so they can appropriately use genome information to educate their own patients?
Right now we really see this as a two-way exchange in which scientists need to educate medical professionals and vice versa.
How is the study being funded?
We estimate it costs us $1,000 per individual and that’s from saliva collection to genetic counseling. Our funding has been through philanthropic donors, and through institutional support.
[To reach our goal of 10,000 participants] we’ve secured $5 million so far. But we need $25 million in total.