Evaluation, Reimbursement & Evidence

It is important that, like other technologies, the evaluation of genomics supports the best use of scarce health system resources and demonstrates the value of genomic testing over other existing methods. The issues involved in evaluation, reimbursement and evidence are focused on generating information about the analytical validity, clinical validity and clinical utility of medical genomics applications as well as the affordability in terms of cost effectiveness and budget impacts. 

Key international groups in the evaluation area are the Health Technology Assessment International (HTAi) Policy Forum and the European Network for Health Technology Assessment (EUnetHTA). HTAi provides an opportunity for people using HTA to discuss the present state of HTA, its development and implications for healthcare systems, industry, patients and other stakeholders. EUnetHTA was established to create an effective and sustainable network for HTA across Europe. The partners work together to develop reliable, timely, transparent and transferable information to contribute to HTAs in European countries thereby supporting HTA knowledge-sharing and promoting good practice in HTA methods and processes.


Within the Catalogue of Global Genomic Medicine Implementation Initiatives, around a third of all initiatives (21/61)* gave some acknowledgement to evaluation, reimbursement or evidence themes, primarily in the policy frameworks and demonstration projects. The following is a summary of the topics and links have been provided to relevant literature and resources on each topic.

* Initiatives from the catalogue that acknowledge Evaluation, Reimbursement & Evidence themes

Australia (7) - National Health Genomics Policy Framework, NSW Health Genomics Strategy, Genetic and genomic healthcare for Victoria 2021, Australian Genomics, Melbourne Genomics, Queensland Genomics, South Australian Genomics Health Alliance

Belgium (1) - Genomics and public health in Belgium

Canada (2) - Genome BC - Strategy for Genomics in the Health Sector in British Columbia, Genome Canada

Europe (2) - Shaping Europe’s Vision for Personalised Medicine-Strategic Research and Innovation Agenda (SRIA), Ubiquitous Pharmacogenomics (U-PGx)

Finland (1) - Improving Health through the use of Genomic Data

France (1) - French Plan for Genomic Medicine 2025 

Italy (1) - National Plan for Public Health Genomics

Sweden (1) - Genomic Medicine Sweden

Thailand (1) - Genomics Thailand

United Kingdom (2) - Building on our inheritance - Genomic technology in healthcare-A report by the Human Genomics Strategy Group, Generation Genome- Annual Report of the Chief Medical Officer 2016

USA (1) - The 2011 NHGRI strategic plan - Charting a course for genomic medicine from base pairs to bedside, Project Baby Bear