Clinical & Laboratory Pathways


This theme relates to the task of integrating medical genomics into mainstream laboratory and clinical services. It also has connections to other themes such as the assessment of clinical validity and utility and integration of genomic data and results with other digital infrastructure such as electronic health records.


Within the Catalogue of Global Genomic Medicine Implementation Initiatives, almost half of all the initiatives (29/61)* gave some acknowledgement to analysis of clinical and laboratory pathways and the following activities were described:

  • new models of care including appropriate referral mechanisms for genomic testing linked to clinical pathways

  • development of genetic and genomic service plans that cover clinics, laboratories and health information technology

  • commissioning of genetic and genomic services

  • mapping of patient pathways and identification of how patient data will be included in the care pathway

  • developing and promoting clinical best-practice guidelines and policies

  • developing tariffs for genetics and special pathology tests 

  • developing decision support tools

  • generating evidence of the best implementation practices

  • establishing capabilities and infrastructure to implement clinical and laboratory workflows including defined standards and requirements 

  • developing the enabling tools to integrate genomic results into electronic health records (EHRs)

Given the variation in how health services are organised, and the large number of participants involved, it is not surprising that work to identify appropriate clinical and laboratory pathways is happening across the world. There is also a recognition within this work that there is not a “one size doesn’t fit all” solution and there may be different applications of genomics and different clinical pathways and models required to suit different diseases, conditions and local contexts.


Resources on clinical & laboratory pathways:

Levy KD, Blake K, Fletcher-Hoppe C, Franciosi J, Goto D, Hicks JK, et al. Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network. Genet Med. 2019;21(3):743-7.

Burton H HA, Kroese M, Raza S. Genomics in mainstream clinical pathways. PHG Foundation; 2017.  Contract No.: 978-1-907198-30-4.

Elliott AM, du Souich C, Adam S, Dragojlovic N, van Karnebeek C, Nelson TN, et al. The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia. Mol Genet Genomic Med. 2018.

Murray MF. The Path to Routine Genomic Screening in Health Care. Ann Intern Med. 2018;169(6):407-8.

Unim B, Lagerberg T, Pitini E, De Vito C, Vacchio MR, Adamo G, et al. Identification of Delivery Models for the Provision of Predictive Genetic Testing in Europe: Protocol for a Multicentre Qualitative Study and a Systematic Review of the Literature. Front Public Health. 2017;5:223.

* Initiatives from the catalogue that acknowledge Clinical & Laboratory Pathway themes

Australia (8) - National Health Genomics Policy Framework, NSW Health Genomics Strategy, Genetic and genomic healthcare for Victoria 2021, Australian Genomics, Melbourne Genomics Health Alliance, Queensland Genomics Health Alliance, South Australian Genomics Health Alliance, Australian Genomics Health Futures Mission

Belgium (1) – Genomics and Public Health in Belgium

Canada (3) – Genome Canada, Genome BC - Strategy for Genomics in the Health Sector in British Columbia, Genome Canada National Initiative for the Clinical Implementation of Precision Health

China – Hong Kong (1) – Hong Kong Genome Project

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

Japan (1) - Implementation of Genomic Medicine Project

Middle East (2) - Centre for Arab Genomic Studies, Dubai Genomics

Qatar (1) - Qatar Genome Programme (QGP)

Saudia Arabia (1) - Saudi Human Genome Program

Singapore (1) - POLARIS (Personalized OMIC Lattice for Advanced Research and Improving Stratification) 

Thailand (1) - Genomics Thailand

United Kingdom (3) - Building on our inheritance - Genomic technology in healthcare, The 100,000 Genomes Project Protocol, 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