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successful treatments, genomics arguably does not fi t into traditional trial methodology, which calls for large sample sizes. By defi nition, genomic therapies only apply to small groups, so a wider range of analyses should be used as part of an adaptive approach combining retrospective, prospective and comparative studies. There is also a growing body of opinion in favour of making genomic treatments available to patients far earlier than is usually permitted, to hasten the move to more fl exible trials.
Making sense of the data
Ultimately, genomics is a data-rich form of research and requires appropriately robust electronic medical health records systems that can adapt over a patient’s lifespan. The NHS has some way to go before its own IT systems are best in class, which could hinder the full integration of genetic information into patient records. The failure of the ill-fated National Programme for IT illustrated the challenge of creating a modern, streamlined infrastructure so, for now at least, any attempts to introduce genomic data will have to fi t in with existing records.
The journey towards personalised healthcare could be accelerated by reporting the patient’s full family history – along with functionality such as clinical decision support and a patient portal for entering and viewing data – all of which takes time and resources.
Patient confi dentiality is a further concern, especially where genotyping reveals ‘incidental fi ndings’ that could indicate susceptibility to conditions beyond the scope of the initial test. As a result, doctors face an ethical dilemma over whether to let a patient know they have a chance of developing a serious disease. Moreover, any investigations can add substantial costs for cash-strapped health systems.
From an R&D perspective, scientists need appropriate data management and modelling support to make sense of the vast amount of sequencing information. While open source platforms can aid interoperability and make use of the latest clinical applications and services across the patient lifecycle, the ultimate aim is, of course, to have a global database that researchers can tap into to share and advance learning.
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PATIENT CONFIDENTIALITY IS A FURTHER CONCERN, ESPECIALLY WHERE GENOTYPING REVEALS ‘INCIDENTAL FINDINGS’ THAT COULD INDICATE SUSCEPTIBILITY TO CONDITIONS BEYOND THE SCOPE OF THE INITIAL TEST
© 2014 KPMG LLP, a UK limited liability partnership, and a member fi rm of the KPMG network of independent member fi rms affi liated with KPMG International Cooperative, a Swiss entity. All rights reserved.
GENOMICS
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