Table 3

Data needed on implementation, data gaps and possible data sources

Implementation
factors		Data gaps
(based on publicly available, accessible data sources)		Possible data sources with illustrative examples22 30
Availability of NGS tests for clinical use

  • No source describes availability worldwide or across clinical applications

  • Limited and/or outdated information on many countries, particularly outside of North America and Western Europe

Published journal articles
For example, Article from global collaborative that focuses on enabling the implementation of genomic medicine
Grey literature*
For example., Online news source such as GenomeWeb that reports on genomic test availability and utilisation
Administrative and clinical data†
For example, Registries such as the US National Institutes of Health (NIH) Genetic Testing Registry that consists of voluntary submissions by laboratories of their available tests
Utilisation
(# tests ordered)

  • No source describes utilisation worldwide or across clinical applications

  • Limited data other than for US populations and in specific health plans or centres

Published journal articles
For example, Article that describes US genetic test availability and spending based on claims data
Grey literature*
For example, Market reports such as investor analyses of NGS Market by product type
Administrative and clinical data†
For example, white papers such as Personalised Medicine Coalition’s report that used data integrated from claims, census and proprietary databases
Funding

  • No source describes funding worldwide or across clinical applications

  • Some data available for government-funded programmes and US private payer or Medicare coverage

  • Limited data on many countries, regional coverage and Medicaid coverage (USA)

Published journal articles
For example, Article that reviewed coverage policies for ctDNA (liquid biopsy) tests
Grey literature*
For example, Advocacy group website such as Coalition for Access to Prenatal Screening
Administrative and clinical data†
For example, Proprietary and academic databases such as those developed by TRANSPERS and Canary Insights

  • *Includes white papers, health system reports, market analyses, regulatory filings, company websites, news reports, national/international consortia websites.

  • †Includes electronic health records, claims data, fee schedules, industry databases, registries.

  • NGS, next-generation genomic sequencing.