Personalized medicine adoption

Rebecca Aris interviews Dr Michael Christman

Coriell Institute for Medical Research

pharmaphorum interviews Dr Michael Christman on the adoption of personalized medicine.

As a result of the dramatic reduction in the cost of whole genome sequences, and genotyping in general, a flood of genetic information is about to make its way into a clinical setting. With this comes the potential to improve healthcare and health outcomes, but also the complexity of determining how to actually use this information clinically.

Historically, we haven’t really used personal genetic information for the most part, except for rare paediatric diseases. But now we’re seeing the emergence of genetic information that’s relevant to everyday clinical management.

Four years ago, the Coriell Institute for Medical Research launched ‘The Personalized Medicine Collaborative’ with the goal to understand the best practices around using personal genetic information in the clinical setting. In addition, it intends to determine the worth of personal genetic information in a clinical setting and recognize what people understand or misunderstand about Personalized and the use of personal genetic information.

We interviewed Dr Michael Christman of the Coriell Institute for Medical Research to find out more.

Interview summary

RA: Dr Christman, thank you for agreeing to take part in this interview. Could you please tell me about the new partnership in personalized medicine with the US Air Force, and John Hopkins University applied physics laboratory, and what it hopes to achieve?

MC: The Coriell Personalized Medicine Collaborative has more than a dozen different partners, either hospital partners or academic collaborations. We have a very exciting new partnership with the US Air Force and John Hopkins Applied Physics Laboratory.

The US Air Force has made it a priority to keep its medical service the best in the world and has recognised the importance of using personal genome information. They approached us and suggested that we work together on a new arm of the Coriell Personalized Medicine Collaborative, which would initially enroll about 2,000 Air Force healthcare providers and educate them on genomics and then let them think about how they can actually use this information.

There are approximately 135 medical schools in the US and very few of them actually have a separate course in genetics, and very few are talking about the use of genomic scale information and the human genome.

We’ve got to start by incorporating education about the impact of personal genome information into medical school education, and that is clearly one of the major goals of the Air Force in getting into this activity.

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“…your doctor could consult your genetic profile to determine whether a given prescription drug is likely to work for you or not.”

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RA: What genome information is ready for clinical use?

MC: The earliest clinically actionable genetic information will be in two major areas. One is cancer, and the other is in the efficacy and dosing of prescription drugs.

Approximately half of the time when a prescription drug is given to an individual it simply doesn’t work for them, and in a smaller number of cases the drug can actually be toxic. There’s not a broad awareness of this among physicians, or among patients. That really needs to change, so that half of the $300 billion or so spent in the US every year on prescription drugs isn’t wasted.

If we had your genetic information on file, then your doctor could consult your genetic profile to determine whether a given prescription drug is likely to work for you or not. In many cases, there is an FDA approved alternative drug that they could prescribe.

The other area is cancer, and I think that has really been demonstrated in the past 10 years. Sequence information about the somatic changes in a tumour can be extremely useful to guide therapy in this way.

So cancer and pharmacogenomics will be the earliest avenues for what’s ready for clinical use.

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“Medical school curriculum committees have got to embrace the importance of including genomics in the curriculum.”

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RA: How soon do you think it will be until personalized medicine becomes a reality?

MC: Very soon, and already it is slowly becoming a reality.

In academic medical centres we are already seeing a lot of successes with the sequencing of somatic tumours, and the identification of potentially new drug targets.

The next area of the uptake is pharmacogenomics and things are going to move a little faster on this, and the uptake is really going to be a lot more rapid.

Where it could lag is that physicians need bringing up to speed on the importance of using genetic information. The private sector will solve the issues around how you actually store and deliver information back to physicians.

It’s not going to be necessary for doctors to all become experts in the human genome, that’s unrealistic. The mechanisms aren’t yet in place for a doctor who would be made aware of the importance of using genetics to store that information or to have it interpreted in a robust and meaningful way.

Another barrier to entry is the attitude of payers, and their willingness to reimburse for genome sequences. What we’ll see is a faster adoption in countries that have single payer healthcare systems because it will ultimately benefit long-term care. So you’ll see a slower adoption in the US than in other markets.

RA: How do you think medical professionals and the general public can be better educated about what personalized medicine actually is?

MC: For medical professionals it’s got to start in medical school. Medical school curriculum committees have got to embrace the importance of including genomics in the curriculum.

As far as the public is concerned I think they are very engaged and interested in genomic information. Having a belief in the clinical utility of it, while maybe it’s slightly exaggerated in the way the public views it now, is a good thing.

One of the concerns that people have as genetic information makes its way into a clinical study, is that they may find out something they really don’t want to know about. A big issue regarding the public or patients who have whole genome sequences performed is that they’re adequately consented. That is they’re told ahead of time what the consequences are just by virtue of having the entire set of genomic information at their disposal.

My view is that it would be too paternalistic of anyone to say we’re going to determine your genetic sequence but you can’t see the whole thing, because we don’t think you’re ready for it.

While most people are not ready to interpret it, I think it is an individual’s right to see it, and so they simply need to be appropriately cautioned.

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“You will see sequencing factories, which will consist of experts who can provide accurate rapid whole genome sequences.”

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RA: What do you think the personalized medicines space will look in 10 years’ time?

MC: In 10 years you’ll have specialised knowledge among different groups that need to be integrated in one genetic ecosystem. You won’t have hospital systems or office practices buying sequencing machines. You will see sequencing factories, which will consist of experts who can provide accurate rapid whole genome sequences. What a physician will need is simply access to FedEx, and to collect some saliva or blood, and mail it off to this sequencing factory.

There will be a need for a gene vault that will store all that information and be an expert custodian of whenever it’s consulted. At Coriell we are very close to announcing a partnership with IBM to be such a gene vault, where whole genome sequences could be stored. Individuals could be provided with the comfort that any time their sequence is consulted or any information is incorporated into an electronic medical record an audit trail of this would be provided for the individual.

The role of this gene vault for storing sequences is to provide the ability for a variety of interpretive engines to use that information.

Until you build that infrastructure, it’s difficult for physicians to know how to manage the landscape of ordering a whole genome sequence.

But you will see those barriers broken down in the private sector.

RA: Thank you very much for your time there and for your insights.

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About the interviewee:

Michael Christman, PhD, is the president and chief executive officer of Coriell Institute for Medical Research. After arriving at the Institute in2007, Dr. Christman established the Coriell Personalized Medicine Collaborative® (CPMC®), a forward-looking research study that has put Coriell at the forefront of genome-informed medicine. The CPMC project involves nearly 6,000 participants and numerous academic collaborators such as the University of Pennsylvania, Fox Chase Cancer Center, Boston University, Stanford University, Ohio State University, and the United States Air Force. The study’s truly collaborative team of physicians, scientists, ethicists, genetic counselors, pharmacists, information technology experts, and volunteer study participants, recognize the promise of personalized medicine and seek to guide its ethical, legal and responsible implementation.

Before assuming the leadership role at Coriell in 2007, Dr. Christman chaired the Department of Genetics and Genomics at Boston University School of Medicine and led an international group that performed the first genome-wide association study using the Framingham Heart Study Cohort. Recently, Dr. Christman and other Coriell scientists collaborated with Dr. Charles Rotimi of the NIH to complete one of the first genome-wide association studies of an African American cohort.

What do you think the personalized medicines space will look in 10 years’ time?