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Reporter: Aviva Lev-Ari, PhD, RN

With IBM Help, Coriell Spins off For-Profit Entity to Store Whole-Genome Sequencing Data

Review of Coriell Institute Profile

Personalized Medicine: An Institute Profile – Coriell Institute for Medical Research: Part 3

https://pharmaceuticalintelligence.com/2013/01/13/personalized-medicine-an-institute-profile-coriell-institute-for-medical-research-part-3/

UPDATED on 5/16/2013

The Bank Where Doctors Can Stash Your Genome

A new company offers a “gene vault” for doctors who want to add genomics to patient care.

Genomic sequencing might be more common in medicine if doctors had a simple way to send for the test and keep track of the data.That’s the hope of Coriell Life Sciences in Camden, New Jersey, a startup that grew out of a partnership between the Coriell Institute for Medical Research and IBM. The company wants to facilitate the process of ordering, storing, and interpreting whole-genome-sequence data for doctors. The company launched in January and is now working with different health-care providers to set up its service. “The intent is that the doctor would order a test like any other diagnostic test they order today,” says Scott Megill, president of Coriell Life Sciences. The company would facilitate sequencing the patient’s DNA (through existing sequencing companies such as Illumina or Ion Torrent), store it in its so-called gene vault, and act as the middleman between doctors and companies that offer interpretation services. Finally, “we will return the genetic result in the human readable form back to the electronic medical record so the doctor can read it and interpret it for the patient,” says Megill.

“You need a robust software infrastructure for storing, analyzing, and presenting information,” says Jon Hirsch, who founded Syapse, a California-based company developing software to analyze biological data sets for diagnosing patients. “Until that gets built, you can generate all the data you want, but it’s not going to have any impact outside the few major centers of genomics medicine,” he says.

The company will use a board of scientific advisors to guide them to the best interpretation programs available. “No one company is in position to interpret the entire genome for its meaning,” says Michael Christman, CEO of the Coriell Institute for Medical Research. “But by having one’s sequence in the gene vault, then the physician will be able to order interpretative engines, analogous to apps for the iPhone,” he says. Doctors could order an app to analyze a patient’s genome for DNA variants linked to poor drug response at one point, and later on, order another for variants linked to heart disease.

The cloud-based workflow could help doctors in different locations take advantage of expert interpretations anywhere, says Christman. “This would allow a doctor who’s at a community clinic in Tulsa, Oklahoma, order an interpretation of breast cancer sequences derived at Sloan Kettering,” he says.

But while the cloud offers many conveniences, it carries some potential risks. “I am a bit concerned if we really start to outsource data to the cloud without any regulation,” says Emiliano De Cristofaro, a cryptography scientist with Xerox’s PARC who is developing a genomic data storage and sharing platform. “We must not forget that the sensitivity of genomic information is quite unprecedented,” he says. “The human genome is not only a unique identifier but also contains things about ethnic heritage, predisposition to certain diseases including mental disorders, and many other traits.” Data leaks happen all the time, says Cristofaro, and while you can change your password after a security break, “there’s no way to revoke your genome.”

Keeping the genomic data secure is a key component and is the reason the group began a relationship with IBM, says Megill. The data would be stored at the company’s headquarters and would be available only to limited users—doctors and companies that offer diagnostic or other medical interpretation of the genome, he says.

If a patient changes her health-care provider, the data will remain available for her next physician. Storing the data will be free, says Christman.

http://www.technologyreview.com/news/510901/the-bank-where-doctors-can-stash-your-genome/

January 30, 2013

Originally published Jan. 29.

MOUNTAIN VIEW, Calif. – The Coriell Institute for Medical Research in partnership with IBM has launched a for-profit company that will store consumers’ whole-genome sequencing data.

The goal of the spinoff company, called Coriell Life Sciences, “is to address how will a doctor actually use whole-genome sequences in a clinical setting,” CIMR CEO Michael Christman said at a personalized medicine meeting here this week. After doctors order a whole-genome sequence, which would be provided by a sequencing service provider, Coriell Life Sciences will harmonize and store that data in a gene vault for the patient. Physicians then will be able to order certain interpretive analyses from third parties on the sequence based on the patient’s medical needs.

After planning for 18 months, Coriell and IBM launched Coriell Life Sciences a few weeks ago. Describing the company as the “expert custodians” of whole-genome data, Christman explained that patients’ information may remain in the gene vault, regardless of whether they change jobs or healthcare providers. The patient will own their data stored in the vault and will have the ability to consent to which third parties gain access to the information and for what purpose.

Coriell Life Sciences will not charge patients for storing their data. Patients can consent to allow their de-identified data to be used for research, at which point Coriell will add their information to an aggregate research database that will be used for discovery work. Alternatively, patients can remove their sequence from the vault if they choose.

Physicians that have ordered certain interpretive analysis on patients’ genome sequences will receive the results through electronic medical records. If the healthcare provider doesn’t have an EMR in place, then they can use a web portal interface through Coriell Life Sciences.

If a physician orders genomic interpretation of a patients’ data related to episodic care, however, the third-party interpretation company will have the right to the genome sequence information for performing that specific analysis. “For most collaborators, their access to patient data will be limited to only the subset of the total sequence required by their specific interpretation,” Scott Megill, CEO of the new firm, told PGx Reporter via email. “If an interpretation company has a legitimate, non-commercial research aim that could benefit from the use of large anonymized data sets, they will have an opportunity to utilize aggregate, well-consented data like any other research organization.”

Likening Coriell Life Sciences to Apple’s App Store, Megill noted that the company’s core GeneExchange product will offer a marketplace in which genome interpretation companies can charge “fair market rates” for their services. In turn for providing the sales channel, marketing, storage, data harmonization, and electronic medical records integration, Coriell Life Sciences will charge a brokerage fee for each transaction, he explained. A spokesperson for the company said that these transaction fees will be “baked into the overall cost to the payor” for each individual test.

“The data is harmonized and brokered such that it can be interpreted by a variety of clinical applications,” Christman said.

“No one company is well positioned to interpret the entire genome,” he added. “In principle what this would do is allow a doctor in Tulsa, Oklahoma, to order the cancer analysis application … that was developed at MD Anderson or Sloan Kettering.”

Coriell Life Sciences is also developing an application that will allow doctors to gauge pharmacogenomic associations in a patient’s sequence. The PGx app will be developed based on data collected by Coriell over the last five years through its Personalized Medicine Collaborative research project.

Launched in December 2007 for the lay public, the Personalized Medicine Collaborative aims to study the impact of genome-informed treatment on medical care by genotyping patients and reporting only clinically actionable genomic information. The study has so far enrolled thousands of participants and has research partnerships with Cooper University Hospital, Virtua Health, Fox Chase Cancer Center, and Helix Health (PGx Reporter 6/17/2009).

Similar to the Personalized Medicine Collaborative, the PGx app will initially enable doctors to gauge whether their patients are at risk for dozens of complex conditions and learn how they metabolize commonly prescribed drugs. “We will be expanding this offering to ultimately include several dozen drug efficacy and dosage recommendations,” Megill said.

The need for securing people’s genome data will become more acute as advanced sequencing technologies become part of mainstream medical care. Coriell Life Sciences was conceived “from a clear market need, identified in our work in the Coriell Personalized Medicine Collaborative research study, to provide the critical missing infrastructure required to enable clinical use of genome-informed medicine,” Megill said. “Doctors today have no easy way to order a genetic test, have the resulting sequence data stored in a trusted place for future use, and receive a ‘human readable’ report that can be used by doctors who haven’t been trained as geneticists.”

Coriell Life Sciences’ business model is based on an assumption that community healthcare providers will likely outsource genome sequencing and the storage of the data. “I don’t think you’re going to see the hospitals buying sequencing machines. It is rocket science and there are rocket scientists who are quite good at it,” Christman said. “So, the doctors will need the ability to collect blood and saliva and the access to FedEx. The sequence then needs to go somewhere.”

Furthermore, Coriell Life Sciences will provide doctors with options on the specific types of available data interpretation services.

“Ultimately, the sequence becomes a commodity supply to the interpretation. Doctors do not need to be educated in the value of an Illumina sequence versus a Complete Genomics sequence to order a specific interpretation,” a company spokesperson said. “Coriell Life Sciences will negotiate the best available supplier for sequence data on their behalf using stringent standards for quality and turnaround time.

“The key principle is making it easy for doctors to order tests and receive results that are ‘human readable’ – without needing to be a geneticist.”

IBM has provided technologies for Coriell Life Sciences and has invested an undisclosed amount in the company. Separate from this effort, Coriell is using IBM’s capabilities and systems to store the 1.5 gigabytes of information per person who has partaken in the Personalized Medicine Collaborative, which aims to genotype 100,000 people.

Megill, in line with other industry observers, believes that doctors are much more likely to use personalized treatment strategies if data from genomic testing were integrated into patients’ electronic medical records. In this regard, the partnership with IBM is critical, since IBM technologies are utilized in 75 percent of the world’s electronic medical record systems, he estimated.

Leveraging IBM’s integration and data interchange technologies, Coriell Life Sciences “will build bi-directional data integrations with healthcare systems so that tests can be ordered, phenotypic data can be utilized, and results can be delivered within the context of the patient record,” Megill said.

Coriell Life Sciences’ model is looking ahead to a time when having a whole genome sequence in medical care will be as commonplace as getting an annual physical exam, except one needs to get his genome sequenced only once. Several speakers at the conference in Mountain View discussed how the advent of whole genome sequencing will change patient care and the diagnostics market.

Describing a model very similar to the one being pursued by Coriell Life Sciences, Cliff Reid, CEO of sequencing firm Complete Genomics, discussed how in the future having whole genome sequence testing performed for a patient and then storing the data for future use will reduce the cost of genetic testing dramatically.

“There will be one cost up front [for whole genome sequencing]… and virtually free thereafter,” Reid said. “By storing it in a secure database, the cost of every genetic test after that is pennies and the time to get it is seconds.

“This is a radically different economic and usage profile than what we’re seeing today in the genetics industry,” he added. “This doesn’t fit very well in the current practice.”

Turna Ray is the editor of GenomeWeb’s Pharmacogenomics Reporter. She covers pharmacogenomics, personalized medicine, and companion diagnostics. E-mail Turna Ray or follow her GenomeWeb Twitter account at @PGxReporter.

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