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Harnessing the power of genetics

In oncology, and other therapy areas, personalised medicines offer new hope against chronic illnesses

dna figure

Personalised or targeted medicines are now an established part of the treatment landscape in developed healthcare markets. In oncology, and in the treatment of an increasingly diverse number of other conditions, these therapies offer patients new hope in the fight against chronic, life-threatening and life-changing illnesses. With the right approach, personalised therapies can harness the power of genetic medicine and data analysis to radically improve the outlook for patients.

In fact, improvements in prognosis are only possible through a better understanding of the complex nature of the conditions involved and the genetic make-up of the patient – personalised therapies are truly effective in small cohorts with specific physiological attributes. Effective use relies on the availability of clinical grade, affordable companion diagnostics in major therapy centres. These diagnostic tools are essential for making sense of the huge amounts of data being collected through Next Generation DNA Sequencing (NGS) - data which in isolation means little for informing treatment decisions.

To date, the approach to delivering genetic data analysis in Europe has been fragmented, and clinical access to the right tools remains patchy from England to the UK through Germany, France and Switzerland for instance. This in turn is holding back the full promise of personalised medicines from being realised given their reliance on detailed patient information. And this is despite the existence of proven systems which deliver at or close to 100% accuracy when interpreting raw genetic data collected and analysed in hospitals and private laboratories.

Key challenges for improving the availability of such tools include the current lack of agreement on standardisation for both collecting and analysing data, a lack of awareness of what systems exist and how they are being used, resistance to collaboration and concerns about data security and ownership. Reimbursement challenges also remain for ensuring adequate funding, despite the fact that genetic analysis can often predict the occurrence of existence of chronic diseases and thus reduce long-term costs to health systems.

Smart Data
Standardising data collection and analysis would help drive both efficiencies across healthcare systems and improvements in quality. It would also help our understanding of how smart data can be linked to the use of personalised medicines, by providing clinicians with access to a tried and tested system for informed decision making. It is not magic. Systems which deliver highly accurate, fast and cost-effective analysis of genomic data already exist, but their uptake has been hampered by a lack of agreement on which approach is best. Some institutions in Europe also continue to develop their own in-house techniques to analyse data, which lack accuracy and real world experience, and also miss the opportunity to share meaningful information with other institutions to the benefit of patients.

The full potential of genomic testing has yet to be realised

Collaboration and data management offer huge potential for improving testing and analysis and the subsequent provision of advice to patients. From the increasing amounts of data being collected around Europe, new insights are emerging as data insights help clinicians to spot genetic variants and improve understanding of how patients respond to treatments. These gains rely on the willingness of institutions to enter into collaborations and for anonymised data to be shared via secure platforms. Further gains will be made in our understanding of genetic medicine, and by extension the use of personalised therapies, when collaboration becomes the norm rather than the exception.
Privacy concerns
Finally, concerns over data collection and management mean that the full potential of genomic testing and analysis has yet to be realised. Institutions are rightly cautious about ensuring the correct storage and management of data under their jurisdiction, but must be willing to allow specialist providers the ability to analyse it in order to deliver clinical insights via tried and tested routes. Any organisation that handles genetic data must regard its safeguarding with the utmost importance, but this cannot be at the expense of using it to inform patient treatment.

Routine genetic testing and analytics should be made available to all who need it, harnessing the power of genetic medicine to deliver the full potential of personalised therapies. European institutions and policy makers must look at the existing societal barriers to making this happen, in an effort to encourage collaboration, access and knowledge of how best to treat chronic diseases. This is the only way to perform the much-needed shift from reactive to proactive medicine, described as the 4P medicine: personalised, predictive, preventive and participatory at the same time.

Dr Jurgi Camblong is a co-founder and CEO of European clinical genomics firm Sophia Genetics

20th April 2015

From: Research



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