A joint programme providing a free clinical whole-exome sequencing service for patients with rare diseases who cannot afford such investigations has been launched in the US.
 
The Global Genes Project, a non-profit rare disease advocacy organisation and Syndromes Without A Name USA (SWAN USA), another non-profit support organisation for patients with undiagnosed syndromes, are funding the initiative.
 
The majority of rare diseases – and indeed, the majority of undiagnosed syndromes for which a clinical diagnosis has not been made, which may be considered to be very rare diseases – have an underlying genetic cause. The new capacity for whole exome and indeed whole genome sequencing is likely to aid the identification of genetic mutations underlying many such diseases, since they can effectively probe the genome in greater depth than other diagnostic tools.
 
Identifying a genetic cause of disease and making the information linking symptoms and mutations widely available via clinical databases can help clinicians diagnose other cases. Provision of a genetic diagnosis may inform clinical management for patients, and is of immediate value in informing parents about risks of recurrence in any future children. Moreover, a diagnosis is in itself of value to families, both psychologically and also often in helping them to access supportive social care and medical services.
 
An initial pilot programme will see around 30 patients receive free whole exome sequencing and diagnostic analysis worth an estimated $3,500- $5,000 from the UCLA Clinical Genomics Center and company Parabase Genomics; the organisations hope to raise further dedicated funding to support subsequent expansion of the programme.
 
A multi-disciplinary committee was convened to select these programme delivery partners, but it is not explained how the patient participants were chosen.

The announcement comes ahead of International Rare Disease Day on 28th February, the theme for which this year is improving care for rare diseases. 

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