Better Framework Needed for Genomic Sequence Reanalysis

Better Framework Needed for Genomic Sequence Reanalysis

Reanalysis improves genetic diagnosis, but there is currently no onus on laboratories to reanalyze data

Apr 22, 2020
Clinical Lab Manager

Reanalysis of genetic data is a game-changing process that can substantially improve diagnostic rates, but according to a new study published last month in Familiar Cancer, laboratories and clinicians require a better framework for such reanalyses.

Previous studies have shown that despite the high diagnostic yield associated with genomic sequencing, many patients do not receive a genetic diagnosis at the time of the initial analysis. Systematic data reanalysis can lead to between 4 and 32 percent increases in genetic diagnosis rates. Yet, there is currently no onus on laboratories to reanalyze data.

For the study, researchers interviewed 31 genetic health professionals (genetic counsellors and clinical geneticists) across Europe, Australia, and Canada about their experiences with data reanalysis and reinterpretation practices after requesting genomic sequencing for their patients. 

They found that a combination of patient-, clinician-, and laboratory-initiated reanalysis practice models are currently used to trigger reanalysis of patient data. The most common method was a patient-initiated model, where clinicians instruct patients to return to the genetic service for reassessment after a period of time or if new information came to light.

The considerable variation in the ways that reanalysis of patient data was initiated raises concerns about the roles and responsibilities of laboratories and clinicians, the researchers say, adding that regardless of the model that a genetic service adopts, clear delineation of these roles are needed to ensure that patients do not miss the opportunity to receive ongoing information about their genetic diagnosis.