Impacts of Genomics

Approximately 4,000 genes have been shown to cause disease or affect response to treatment, while a further 6,500 have been implicated. Clinicians are now starting to rely on information about a patient’s genes to inform decisions around patient care and disease prevention.

Advances in technology mean that all of a person’s genes can now be sequenced at once (genomic sequencing) for much the same cost as sequencing only a single gene. The genomic data generated from sequencing can be stored and then analysed multiple times, for both clinical care and research purposes.

Genomic sequencing has enormous potential, but there are a number of challenges to overcome:

  • Poor genomic literacy among mainstream clinical and diagnostic workforces, potentially resulting in inadequate interpretation and use of genomic tests;

  • Lack of evaluation to identify when genomic testing can be used to bring most benefit;

  • Limited but rapidly evolving methods for analysis of genomic sequences to a quality sufficient for patient care;

  • Fragmentation across the health care system, resulting in duplication of effort and inadequate sharing of patient information during the patient’s journey;

  • Clinician and patient consent to genomic sequencing in the course of patient care;

  • Ethical concerns about the potentially sensitive nature of information about a person’s genome; and

  • Inadequate systems, legal frameworks and policy to support management of the ‘big data’ (and ‘small data’) generated by sequencing.

These challenges have meant that health systems around the world are making ad hoc decisions about how to use genomic information[1].

The QGHA presents a significant opportunity to systematically address these key challenges in the context of a series of Demonstration Projects and associated Capability-building Workstream Projects.

1. Nominated challenges drawn largely from foundation Melbourne Genomics Health Alliance background information.