Availability and funding of clinical genomic sequencing globally

Abstract

The emergence of next-generation genomic sequencing (NGS) tests for use in clinical care has generated widespread interest around the globe, but little is known about the availability and funding of these tests worldwide. We examined NGS availability across world regions and countries, with a particular focus on availability of three key NGS tests—Whole-Exome Sequencing or Whole-Genome Sequencing for diagnosis of suspected genetic diseases such as intellectual disability disorders or rare diseases, non-invasive prenatal testing for common genetic abnormalities in fetuses and tumor sequencing for therapy selection and monitoring of cancer treatment. We found that these NGS tests are available or becoming available in every major region of the world. This includes both high-income countries with robust genomic programmes such as the USA and the UK, and growing availability in countries with upper-middle-income economies. We used exploratory case studies across three diverse health care systems (publicly funded/national (UK), publicly funded/provincial (Canada) and mixed private/public system (USA)) to illustrate the funding challenges and approaches used to address those challenges that might be adopted by other countries. We conclude by assessing what type of data and initiatives will be needed to better track and understand the use of NGS around the world as such testing continues to expand.

Genomics of Pulmonary Hypertension

“…While panel testing is often used for clinical diagnostic testing, the gene-sets included in panels are highly variable and can be limited in scope, so the gene list should be carefully reviewed. Decreasing cost and increasing availability of clinical exome and genome sequencing services 66 will soon allow genomic sequencing tests to become the gold standard for genetic testing, either for adult patients with familial disease and without identified mutations from gene panels and in children regardless of family history. Exome/genome sequencing data provides a permanent dataset that can be reassessed over time as new risk genes are identified.…”

Identifying the Steps Required to Effectively Implement Next-Generation Sequencing in Oncology at a National Level in Europe

“…This refined testing has the potential to allow for more focused and highly personalized treatment [1]. Efficient use of NGS can deliver patient benefits by identifying treatments (known as molecularly guided treatment options (MGTOs)) that closely match genomic driver alterations, and this type of technology is already becoming widely used in routine clinical practice across the globe [2]; up until now, however, only a limited number of patients with cancer actually benefit from this approach [3,4] (see Box 1 for an overview of NGS).…”

“…Varying uptake and access also results from diverse reimbursement methods at a national and often regional level, where limited reimbursement of NGS restricts uptake [21]. For example, the UK, Belgium, Denmark, and the Netherlands mainly rely on national government-based funding [2]. Moreover, Estonia has used a variety of private, public, and government-based methods of reimbursement to fund the country's ongoing personalized medicine project [22].…”

US private payers’ perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER)

“…1,2 While payer coverage of both GS and ES in the U.S. has been increasing, there is relatively less coverage of GS, and coverage varies across payers. [3][4][5][6][7] Half of insured individuals have coverage only for ES, 37% have no coverage for GS or ES, and 12% have coverage for both GS and ES. 4,5 Our objective was to assess payers' decisionmaking considerations for coverage of GS versus coverage of ES We obtained data from payers and coverage experts on decision-making considerations (N = 12).…”

“…[3][4][5][6][7] Half of insured individuals have coverage only for ES, 37% have no coverage for GS or ES, and 12% have coverage for both GS and ES. 4,5 Our objective was to assess payers' decisionmaking considerations for coverage of GS versus coverage of ES We obtained data from payers and coverage experts on decision-making considerations (N = 12). Our study is novel because: (1) although prior research considered payers' perspectives on ES, 6 no studies have examined considerations for GS vs. ES, and (2) prior research has found that payers do not cover GS, 8 but has not examined what opportunities payers perceive for advancing coverage of GS in addition to coverage of ES.…”