Rare diseases: better data framework needed to improve diagnostic rates

Rare diseases: better data framework needed to improve diagnostic rates
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A new study has found that a better data framework is needed to improve diagnostic rates of rare diseases.

A new study has found that a better framework for the re-analysis of genetic data, a game-changing process which could improve diagnostic rates of rare diseases by up to 32%, is needed.

The study found considerable variation in the ways that re-analysis of patient data was initiated, which raised concerns about the responsibilities of laboratories and clinicians, as well as patients’ abilities to advocate for themselves.

The research has been led by the Murdoch Children’s Research (MCRI) and the University of Melbourne and published in Familial Cancer.

Re-analysing data

The re-analysis process sees laboratories re-run previously analysed genomic data to check for new genes associated with particular conditions, and also new variants in genes previously reported.

Lead researcher, MCRI’s Dr Danya Vears, said previous studies have shown that despite the high diagnostic yield associated with genomic sequencing, a sizable proportion of patients still do not receive a genetic diagnosis at the time of the initial analysis.

The researchers said that re-analysis of genomic sequencing data could potentially change treatment or management, particularly in rare disease and inherited cancer cases. Yet, there is currently no onus on laboratories to reanalyse data.

Dr Vears said: “Studies show that systematic data reanalysis leads to considerable increases in genetic diagnosis rates between 4 and 32%. Yet it is time intensive and is not currently feasible for most laboratories to implement.

“Few policies address whether laboratories have a duty to re-analyse and it is unclear until now how this has impacted clinical practice.”

Dr Vears said the most common trigger of the re-analysis of patient data 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.

“Some of our participants felt that this system was working quite well and that patients were returning,” she said.

“Yet others raised questions around patients’ abilities to proactively request this service. This could be due to their lack of understanding of what a negative result might mean or because it places additional pressure on patients or families to remember to return when they are already dealing with a complex medical situation.”

Creating a new model

Genetic health professionals felt a laboratory-initiated model would be ideal, but many acknowledged the technology to make this a reality was not yet available.

Dr Vears said: “Regardless of the model that a genetic service adopts, roles and responsibilities need to be clearly outlined so patients do not miss the opportunity to receive ongoing information about their genetic diagnosis,” and added that in many cases, the initiation of reanalysis did not have a clear pathway and could occur through multiple channels, which could lead to confusion.

She continued to comment that translating the power of genomic sequencing from the research context into clinical care was currently one of the major goals of researchers and health-care providers, particularly in areas such as rare disease and inherited cancers.

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