Since the sequencing of the human genome was completed, countries have been moving towards the implementation of genomics in healthcare. However genomics is not the same as other medical tests, for example, the results of genomic testing can have implications for family members beyond the person having the test or genomic testing might identify a predisposition for a disease or disorder that was nor originally under investigation.

As a result of these differences, the introduction of genomics gives rise to a range of policy issues, some of which apply to other medical technologies such as cost effectiveness and utility, as well as some issues which are more specific to genomics such as implications for equity of access, reporting of variants of unknown significance and the potential for insurance discrimination. 

This section describes some of the key policy issues with the aim of providing a common language and place to share ideas and learnings about what works and what doesn't work.


Ethical, legal & social implications (ELSI)

This policy area includes:

  • equity of access to testing

  • data sharing, privacy, consent

  • return of results

  • discrimination

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Workforce skilling

This policy area includes:

  • the skills needed

  • development of education material for the workforce

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Public education & awareness

This policy area includes:

  • informing and educating the public about the potential benefits and limitations of genomic testing

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Data & Information management

 This policy area includes :

  • infrastructure & protocols to store & access genomic data

  • bioinformatics

  • variant calling

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Governance & leadership

This policy area includes:

  • the governance and leadership to drive adoption of genomic medicine

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Scientific understanding & technical capabilities

This policy area includes:

  • scientific understanding of the genetic contribution to disease

  • technical aspects of utilising genomics such as improvements in sequencing capabilities

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Evaluation, reimbursement & evidence

This policy area includes:

  • evaluation/heath technology assessments

  • evidence generation

  • reimbursement

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This policy area includes:

  • legislative/ regulatory issues such as lab accreditation and privacy / discrimination laws

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Clinical & Laboratory pathways

This policy area includes:

  • referral pathways

  • role of multidisciplinary teams and counselling

  • clinical decision-making tools

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