Meeting the needs of patients with ultrarare diseases

Abstract

Patients with ultrarare diseases present unique challenges to the health care systems of developed economies that demand novel approaches, beginning with achieving a diagnosis and concluding with long-term treatment. The challenges derive from numbers. On the one hand, the rarity of the disease phenotypes means that the vast majority of ultrarare patients are never diagnosed, and for the fortunate few who are diagnosed, the journey to a genetic diagnosis is long and perilous. On the other hand, as more human genomes are sequenced, the number of these patients identified is growing logarithmically. Once patients are diagnosed, personalized medicines must be rapidly developed and delivered. Here I define the problems and propose a nonprofit model to meet the needs of some of these patients.

Keywords: genomic diagnosis; personalized antisense oligonucleotide (ASO) treatments; quality systems; ultrarare mutations.