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Intelligent clinical reporting for precision medicine

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Sharmini Alagaratnam

Program director

As highlighted in the Nordic Alliance for Clinical Genomics (NACG) report, within medical diagnostics, the synthesis and interpretation of vast quantities of genomic data into concise clinical guidance has been identified as a major challenge in the effective use of next-generation sequencing-based (NGS) diagnostics in regular clinical practice. These data have significant clinical utility and represent a primary source of information when diagnosing rare genetic disorders, diseases and cancer.

The clinical genomics report details key findings, and represents a core-hand off between specialized clinical genomics laboratories and the broader healthcare community. However, the design and procedures for analysing and issuing clinical genetics reports are not standardized. Misunderstanding results, limitations or key findings can lead to incorrect therapeutic decisions, directly impacting patient management.

Contact us:

Sharmini Alagaratnam

Program director

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“Sometimes I have just one minute to read and understand my patient’s clinical genomics report before making clinical decisions for them.”

Clinical geneticist at a Nordic hospital

User need-driven redesign of clinical NGS reports

The results of the NACG report highlighted that the critical clinical genetics report is ripe for a redesign process from the ground up, prioritizing user needs.

In a benchmarking study, users’ needs were mapped in a design-driven innovation approach. The work covered defining the problem; gathering user insights; sorting and structuring findings; conceptualizing and testing; and choosing a concept.

Insights were gathered through a series of interviews with NGS report end users, including requisitioning clinicians with varying levels of genetic literacy, NGS lab producers and general practitioners, and then processed to identify needs grouped around variation among end users, report format and structure, collaboration and delivery.

The user needs identified were used to redesign the NGS reports into prototype reports with features which facilitate effective and accurate knowledge transfer between laboratories, specialists and patients. These features included a clear information hierarchy, visual representation of the main results summary, explicit laboratory contact information to encourage direct contact and clear recommendations for follow-up. Existing national and international recommendations for reporting were also adhered to in the prototypes.

The benefits

It is hoped that the work will lead to enhanced transfer of information streams from the generator of genetic test results to the end user of these results; increased efficiency in the process of clinical decision making through improved visual presentation of results; and improved patient safety and quality of care: more accurate understanding of test results allows clinicians to implement appropriate measures, while also improving patients’ understanding of their diagnosis and treatment implications.