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journal homepage: www.elsevier.com/locate/hlpt

Health Policy and Technology (2014) 3, 223–225

http://dx.doi.org/12211-8837/& 2014 F

nCorresponding auE-mail addresses

ditya.pai@ca.ibm.co

The role of genomic medicine intransforming healthcare

Heather Frasera,n, Aditya Paib

aIBM, United KingdombIBM, CanadaAvailable online 22 October 2014

For the past thirteen years, since the first draft of theHuman Genome Project was announced, hopes have beenhigh for genomic medicine to be the promise for manyhealth conditions from diagnosis to treatment. After theproject was complete in 2003 [1], the initial examples ofsuccess did not match these high expectations. But todaythere is a renewed optimism in the healthcare industry.The decreased cost of whole-genome sequencing along withnew advances in cognitive computing and drug discovery hascreated a new paradigm where genomic data will soon becombined with electronic health data. Care providers areincreasingly relying on genomic data to add another levelof personalization to an individual's care plan. Cognitivecomputing and other analytics technologies can provide forprecision care where decision support enables a reliablediagnosis and care plan, along with treatment options.

Although many challenges still exist, genomic medicinehas now moved from a vision to reality. It exists in small, butincreasing clusters across the healthcare ecosystem withexamples ranging from the prediction of drug response tothe diagnosis of disease, through to the identification oftargeted therapies. This advance is partly due to majoradvances that have occurred in next-generation sequencing,genome-wide association studies and bioinformatics. Inaddition, our view of the human genome has expanded toa broader view of the human as an ecosystem [2].

So what is different today and what is driving this newlevel of optimism for the future of genomic medicine?

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Technological innovation: High-performance computingis in step with that of gene discovery, whole-genome

0.1016/j.hlpt.2014.10.005ellowship of Postgraduate Medicine. Published by Elsev

thor.: HFRASER@uk.ibm.com (H. Fraser),m (A. Pai).

sequencing cost and speed and making the processing oflarge data sets easier. In addition, the advent of cogni-tive computing which has allowed systems to make use ofnatural language processing and machine learning toingest large and ever-expanding data volumes.

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Market demand: The increased expectation and marketdemand for targeted products, such as drugs and tests,can offer significant and faster advantages over thetraditional industry methods. Genomics is also conver-ging with social media, as evidenced by the sharing ofhealth experiences and questions online. This conver-gence has led to near-instant dissemination of newdiscoveries, as well as new forms of social and scientificcollaboration.

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Consumerism: Growing commercialization of genomics isevidenced by the increased uptake of direct-to-consumergenomic testing, and in more recent regulatory concernsand recommendations about such technologies. [3] Reg-ulatory and legislative precedents [4,5] to protect con-sumers of genomic data have led to increased awarenessof its sensitive nature.

Genomic medicine is set to be a “game-changer” forhealthcare ecosystem stakeholders including patients, pro-viders, researchers, payers, diagnostic companies, policymakers, life sciences and governments with significantimpacts already underway:

Growing use of a new genomic health record

In the next few years, it is likely that an individual whointeracts with the healthcare system will have a genome-based electronic record or “genomic health record.” This

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H. Fraser, A. Pai224

record would extract and integrate relevant electronichealth data with a person's genome data and be used inparallel with other electronic healthcare systems for deci-sion support, prevention, customized testing and treat-ments. [6] Initially the record may not contain the wholegenome sequence, just the results from testing specificgenes.

Adoption of genomic health records can provide a com-pletely different level of decision support to users ofgenomic data through the application of cognitive comput-ing. [7] It has the potential to bring unique advances totranslational medicine and to clinical decision support atthe point of care through two capabilities: understandingnatural language text or speech during diagnosis and treat-ment; and interrogating vast volumes of medical informa-tion to provide an accurate, probabilistic answer.

Based on the availability of accurate molecular diagnostictests, targeted treatments and a greater understanding ofpathways and genes that lead to specific cancers, a select

Figure 1 Three cornerstones of genomic medicine: sequen

group of cancers would be excellent candidates to be usedas an initial step. With the massive expansion of knowledgeacross various health conditions, a person's genomic healthrecord could provide the ultimate source of personalizationfor a care provider - creating an entirely new approach tocare delivery that is personalized using molecular informa-tion on individuals and combined with their most currenthealthcare status.

Greater benefits for stakeholders in eachgenomic medicine cornerstone

As the genomic health record evolves, each of the threecornerstones of genomic medicine (see Figure 1) stands tobenefit substantially:

1.

cin

Sequencing: Sequencing has become both more econom-ical and much faster than in recent years. However,

g, translational medicine and personalized medicine.

225The role of genomic medicine in transforming healthcare

clinical reliability of such large-scale sequencing effortsremains in question, especially when whole-genomesequencing information could be used for translationalmedicine and clinical decision making. New advances inwhole-genome sequencing technology have led to greaterthroughput of sequencing data at a decreasing cost. Andwhen faster, cheaper machines operate in parallel, thou-sands of whole genome sequences could be generatedannually.

2.

Translational medicine: Translational medicine canbroadly encompass the need for new methodologiesand solutions to understand disease mechanisms. Itincludes the discovery of biomarkers, genome-specificdata models, and the integration of genomic andnon-genomic analytics capabilities to discover clinicallyuseful insights. Translational medicine thus has manydiverse data inputs, such as gene sequence data, andphenotypic and environmental information. Although thecapability to rapidly and cheaply sequence the humangenome is important, translational medicine analyzesgenome data with corresponding phenotype informationto provide the real value to researchers who canshare and validate treatment insights among transla-tional medicine communities to improve healthcare andadvance personalized healthcare.

3.

Personalized healthcare: Personalized healthcarefocuses on an individual and the ability of a clinician toprovide unique treatment based on the patient's personalcharacteristics. Genomic medicine will add even morecomplexity for geneticists, genetic counselors and spe-cialists, such as medical oncologists who must link aperson's genomic sequence to appropriate evidence-based personalized treatments. Three specific areas inpersonalized healthcare are expected to stand out: evenmore advances in cognitive computing; greater use ofdisease progression models; and a growing impact ofgenomic medicine on oncology. Oncology is the first areain medicine where the impact of genomic medicine hasalready been documented from predisposition testing todiagnosis, to precision treatment with a targeted drug[8]. With a reduction in sequencing costs, the availabilityof multiple oncology diagnostic panels, the rapid prolif-eration of targeted treatments and a new paradigm ofcognitive computing, the oncology field is one thatshould quickly experience the benefits from persona-lized/precision care and a new genomic health record.

Conclusion

A new genomic health record will become a reality asgenomic information is merged with data from the tradi-tional electronic medical record. Rapid, precision oncologydecision support is expected to expand on a larger scale byperforming sophisticated genome analysis coupled withcognitive computing. The capabilities and technologiesassociated with cognitive computing are critical to the

ongoing genomic medicine evolution by enabling much moresophisticated decision support, innovative clinical trials,new targeted therapies, and a focus on health outcomesto prevent and alleviate disease symptoms.

Funding

None.

Competing interests

None declared.

Ethical approval

Not required.

Acknowledgments

Further insight on this subject is available in thefollowing paper:

Pai, A., T.Koyama and L. Lee. “The evolving promise ofgenomic medicine: How advanced technologies are trans-forming healthcare and life sciences.” IBM Institute forBusiness Value. June 2014. ⟨http://www-935.ibm.com/services/us/gbs/thoughtleadership/genomicmedicine/⟩.

For more information please contact Heather Fraser, IBMInstitute for Business Value Global Lead for Healthcare andLife Sciences at hfraser@uk.ibm.com.

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