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
Workforce skilling
This policy area includes:
the skills needed
development of education material for the workforce
Public education & awareness
This policy area includes:
informing and educating the public about the potential benefits and limitations of genomic testing
Data & Information management
This policy area includes :
infrastructure & protocols to store & access genomic data
bioinformatics
variant calling
Governance & leadership
This policy area includes:
the governance and leadership to drive adoption of genomic medicine
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
Evaluation, reimbursement & evidence
This policy area includes:
evaluation/heath technology assessments
evidence generation
reimbursement
Regulation
This policy area includes:
legislative/ regulatory issues such as lab accreditation and privacy / discrimination laws
Clinical & Laboratory pathways
This policy area includes:
referral pathways
role of multidisciplinary teams and counselling
clinical decision-making tools
