Rare Disease Diagnoses Get a Boost from Scientists’ New Guidelines

Rare Disease Diagnoses Get a Boost from Scientists’ New guidelines

Professor Dame Sue Hill,  Chief Scientific Officer of NHS England, recently interviewed with MedicalXpress citing the importance of unraveling the mystery surrounding non-coding areas in our genomes and their impact on rare diseases.

Leading scientists from Genomics England, Manchester University, and Oxford University published recommendations for updating the potential for genomic variants to cause rare diseases. The teams consist of clinicians and scientists from healthcare and academic institutions throughout the US, UK, and Australia.

The expanded guidelines currently being proposed will allow researchers and clinicians to access the full variation of whole genome sequence (WGS) data.

The presentation appeared online recently in the Genome Medicine journal.

Then and Now

Over the past decade, the majority of genetic testing has addressed coding sequence variants that disrupt gene regions encoding proteins.

The guidelines created over that period to interpret test results also centered on the same type of variants. Although the tests delivered reliable diagnoses, they represented only two percent of the genome. The genome is defined as the full DNA sequence of an organism.

WGS has now become affordable. A growing number of disease-causing variants are being identified. However, the accompanying criteria to enable assessment of their effect on disease are lacking. As a result, there has been an increase in (VUS) variants deemed “of uncertain significance”.

Some of the VUS are difficult to identify as they are similar to disease-causing pathogenic coding variants.

Presentations and Discussions

Data from one hundred thousand individuals who participated in the Genomes Project was used by a panel of research and clinical scientists from UK genomics laboratories who then drafted recommendations.

Thirty test variants were involved in additional testing of the recommendations. They were again tested by other clinical scientists and subsequently presented to the ACGS in 2021.

Following the ACGS meeting, the recommendations will be presented for discussion at the ASHG workshop scheduled for October.

And In Conclusion . . .

Rich Scott, M.D. CMO for Genomics England observed that despite the newest sequencing technologies, families have continued to be without diagnoses for years.

Jamie Ellingford, M.S. one of Genomics England’s lead scientists for rare diseases, stated that with increased access to WGS data, the scientists will be able to increase the number of diagnoses for rare disease patients throughout the world.

Dame Sue Hill concluded the discussion by agreeing that the new guidelines are critical to delving into the mystique of non-coding areas in genomes and how these regions affect the development of rare diseases.

What are your thoughts about becoming a rare disease advocate?

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Rose Duesterwald                        July 31, 2022


Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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