1/2019

Clinical reporting of Next Generation Sequencing data

A systematic Nordic collaborative, peer-reviewed benchmarking

Research Review 2018

DNV GL is a recognized founding partner and secretariat of the Nordic Alliance for Clinical Genomics (NACG). NACG is an independent, non-governmental, not for-profit, association with the mission to work together to learn from each other to lift their performance standards. NACG has the aim at responsible sharing of trustworthy data for improved diagnosis and treatment, and as a resource for research.

The Nordic Alliance for Clinical Genomics (NACG) is a grassroots organization that brings together professionals in five Nordic countries interested in sharing experiences, data and best practices for the implementation of precision medicine. Founded on the pillars of patient-centric care, open collaboration, innovation, accountability and inclusivity, the organization serves as a transparent and constructive forum to exchange ideas and improve the quality and standard-of-care of precision medicine across the Nordics. In the current NACG organizational structure, topics are continuously nominated, prioritized and voted on for active work within one of four working groups.

Next-generation sequencing (NGS) technology is transitioning from research to rare disease diagnostics in the clinic in a process which has proven difficult. The clinical genomics report details key findings from the interpretation of NGS data, and represents the core hand-off between specialized clinical genomics laboratories and the broader healthcare community, who implement patient therapy and management. However, the design and procedures for producing clinical genetics reports are not standardized. Misunderstanding of key results or limitations can lead to incorrect therapeutic decisions, directly impacting patient safety.

Together with the Digital Health Incubator, Digital Solutions, GTR led the development of a white paper, the Clinical reporting of NGS data: a systematic Nordic collaborative, peer-reviewed benchmarking. The paper reviews and summarizes existing national and international guidelines and regulations on clinical reporting. Together with  clinical partners at leading healthcare institutions in five Nordic capitals under the umbrella of the Nordic Alliance for Clinical Genomics (NACG), DNV GL  conducted a peer-reviewed benchmarking reporting exercise. Three fictional clinical cases were distributed to five laboratories, which produced clinical reports from them. The resulting reports were then evaluated by experts with a background in medical genetics. The results of the benchmarking showed significant variation of reporting on one hand, and difficulties in comprehending key information on the other. Finally, a  series of semi-structured interviews were performed with specialists involved in medical genetic testing and end-users of the reports.

Through these activities, gaps were identified in existing guidelines for clinical reporting of genetic variants, as well as suggestions on how the report structure and design can be changed to improve effective and accurate flow of information from the NGS laboratory to the report end user. This paper also demonstrates the broader NACG method of examining partner-defined topics in depth, and comparing and contrasting processes and systems from across Nordic healthcare institutions to develop shared understanding. By examining this topic in depth and comparing and contrasting processes and systems from across Nordic health institutions, a shared lexicon and understanding can be developed. It is our hope that organizations can use this shared knowledge to improve the standard of care within their own institutions and national infrastructures, leading to more effective healthcare and better patient management.

  • Next-generation sequencing (NGS) technology is transitioning from research to rare disease diagnostics in the clinic in a process which has proven difficult.
  • Together with NACG, DNV GL has led the process and production of a paper that examines the design and procedures for producing clinical genetics reports where misunderstanding key results or limitations can lead to incorrect therapeutic decisions, directly impacting patient safety.

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