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Top Ten Takeouts: Genome Sequencing and Profiling

24 Jul 2017 14:40 | Deleted user

When Gattaca was released in 1997, it was fantastical sci-fi fiction or - at best - a future that seemed beyond our lifetime. Twenty years later genome sequencing might not allow us to design individuals, but it does give us unprecedented understanding of our genetic profile. It goes a step beyond genetic testing to understand the whole cells - their structure, sequence and impact - that determine so much of who we are and, increasingly, how we live our lives.

This technology is becoming more available at more accessible price points, raising questions around the management of this data - how it impacts individuals and society, the value of the insights it provides, and at what cost.

We explored:

  • What genome sequencing is, and how it differs from genetic tests

  • How genome sequencing is already being used in research and health care, and how this is translating in clinical practice

  • The information that can be understood from profiles and how it can be used to alter the health and lifestyles of individuals

  • The implications of this technology for the privacy of individuals, including the burden of disclosure

  • How this technology impacts the future of health and life insurance



  1. Genomics studies your complete DNA – or the big picture, as opposed to genetics which studies individual genes

  2. Genomics research is challenging the one-size-fits-all approach to medical conditions and being translated into personalised health plans that guide diet and lifestyle so you might prevent diseases or conditions from manifesting

  3. Genome sequencing and profiling seeks to identify the driver that may lead to future conditions or diseases

  4. Profiling or sequencing should be undertaken in conjunction with the guidance of health practitioners

  5. Be aware of the burden of disclosure. Life insurers can currently require you to disclose data from any genetic profile or test you’ve undertaken.

  6. In future we may see health insurers playing a role in providing testing in order to offer preventative treatments to members that reduce their risk profile

  7. If considering undergoing sequencing or profiling, consult your GP or Melbourne Genomics Health Alliance.

  8. Beware online overseas profile providers of direct-to-consumer testing which may not provide context or counselling along with the data

  9. Who you are and how you determine yourself is much more than the sum of your genes

  10. Your genes aren’t your destiny. These tests provide knowledge, and knowledge is both power and a reason for optimism

The full report is available for download by members or by contacting us directly.

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