Genome Sequencing in Personalised Medicine: The Development of Clinical Pathways over the Next Five Years

Abstract

The exponentially decreasing cost, time and increasing accessibility of genomic sequencing technologies has meant that personal genome sequencing is becoming an affordable reality. Genomic sequence information is a unique dataset that has the potential to guide personalised medicine, particularly in the area of cancer management. Cancer is becoming an increasing burden worldwide, requiring innovation in healthcare to help combat it. There is already evidence of personalised medicine in cancer management through the use of targeted drug therapies and companion genetic tests, and this is expected to grow due to increasing genomic research and innovation. All tumours have unique combinations of mutations, therefore traditional cancer clinical pathways have been ineffective due to their one-size-fits-all approach. As a small flexible nation that has already embraced technology in healthcare with the digitalisation of electronic medical records, New Zealand may provide a model for using genomic sequence information in the clinical setting. It is proposed that the unique genomic sequence dataset will be stored in the electronic health record and leveraged to guide more personalised decisions in clinical pathways. To investigate this, qualitative semi-structured interviews with sixteen individuals involved in either cancer management or genomic research were undertaken, complemented by secondary data. Interviews aimed to understand the barriers and benefits that genomic sequence information may have in the clinical setting when applied to breast cancer management and its use in clinical pathways. It is evident that a number of ethical, storage, practical, technical, and economic barriers remain to be overcome before a clinical pathway software platform integrated with genomic sequence data can be implemented in routine clinical use. Therapeutic intervention and tumour monitoring were identified as the stages in the breast cancer clinical pathway that genomic information might be applied over the next five years, in combination with the multiplex assay panel sequencing platform. Genomic sequence information is one of many possible datasets contributing to a holistic view of a patient’s health needs in order to provide a personalised approach to cancer management and care coordination. However the linchpin of this technology rests upon the uptake of clinical pathways in routine medical practice.