Barriers to Clinical Adoption of Next-Generation Sequencing: A Policy Delphi Panel’S Solutions

Abstract

Aim Identify solutions to the most important policy barriers to the clinical adoption of next-generation sequencing. Materials & methods Four-round modified policy Delphi with a multistakeholder panel of 48 experts. The panel deliberated policy solutions to (previously reported) challenges deemed most important to address. Results The group advocated using consensus panels to promote consistency in payer policies and to standardize test reporting, and favored making genomic data-sharing a condition of regulatory clearance, certification, or accreditation processes. They were split on the role of US FDA. Conclusion Panelists found common ground on solutions for health plan coverage policy consistency, data-sharing, and standardizing reporting, but were sharply divided on the role of the FDA in mitigating risks to patients.

Creating genetic reports that are understood by nonspecialists: a case study

“…2,[7][8][9][10][11][12][13][14] Despite widespread adoption of some guidelines, such as those of the American College of Medical Genetics and Genomics (ACMG), 7 studies investigating patients' and nonspecialists' satisfaction and perceptions find that existing reports leave substantial room for improvement. 4,[15][16][17] Genomic reports are especially challenging due to lack of standardization 18,19 and the complexity and uncertainty of the information involved. 20 There have been attempts to make the interpretation of laboratory reports clearer to nonspecialist clinicians, 16,[21][22][23][24][25] but far fewer to make them clearer to patients.…”

Multisite Study of Optical Genome Mapping of Retrospective and Prospective Constitutional Disorder Cohorts

“…When CMA results are not informative, exome and genome sequencing (ES/GS) have been added to the clinical testing options for many individuals affected with a genetic disease 39 . However, several challenges regarding the high cost of instrumentation, bioinformatics core/expertise, and lack of streamlined analysis and reporting tools limit the implementation and reporting of ES/GS in a standardized manner [39][40] . Multiple studies have also revealed the utility of OGM complementing sequencing technologies in resolving rare undiagnosed diseases such as atypical teratoid rhabdoid tumors (ATRT) and inherited retinal diseases 37,38 .…”

Cost Analyses of Genomic Sequencing: Lessons Learned from the MedSeq Project

“…The lessons we summarize in this report provide practical guidance not only for researchers who conducting their own cost analyses, but also for scientists and policymakers who are interpreting the findings from other work. Aggregated estimates of the costs of sequencing, such as those provided by the National Human Genome Research Institute [54], may be inappropriate if they don’t account for differences in testing choices that may be influenced by the clinical context and patient characteristics, as well as regulatory requirements from oversight organizations such as the FDA [55]. We were able to develop valid estimates of WGS costs in our study by implementing a work-intensive microcosting approach, but more importantly, researchers of the cost impact of NGS tests will need to be careful to incorporate the full variability of approaches that may be appropriate to their clinical contexts and patient populations.…”