Many people with rare diseases struggle to access personalized therapies simply because they lack a confirmed genetic diagnosis. This barrier blocks access to targeted treatments and clinical trials, leaving families in uncertainty and without options. While genomic testing has dramatically improved the diagnostic process for rare diseases, some patients remain undiagnosed even after extensive genetic analysis. In these cases, integrating additional technologies like proteomics into routine diagnostics could be transformative.
As reported by BioMedCentral.com, Proteomics, the large-scale study of proteins, offers a new dimension for understanding rare diseases. Proteins are the functional products of genes, and analyzing them can reveal disease mechanisms, confirm suspected diagnoses, and identify new therapeutic targets. Despite its promise, proteomics is still rarely used outside research settings, limiting its impact on patient care.
Currently, genomics is the only “omics” technology widely used in clinical diagnostics for rare diseases. Advances in genome sequencing have increased the number of patients receiving definitive diagnoses, but barriers remain: some patients cannot access or afford testing, while others receive inconclusive results, such as variants of uncertain significance or no detectable genetic cause at all. For these individuals, the diagnostic journey often stalls, excluding them from disease-specific treatments and trials. Families report significant emotional and practical consequences when a diagnosis can’t be reached, including ongoing uncertainty and difficulty accessing resources.
Proteomics has the potential to change this landscape. Studies have shown that, for conditions with complex or unclear genetic causes—such as mitochondrial disorders—proteomics can confirm diagnoses, outperforming traditional “gold standard” tests. In one recent study, untargeted proteomics supported the genetic diagnosis in 83% of mitochondrial disorder cases and even enabled rapid diagnosis in critically ill infants. Such timely results can guide medical management and facilitate access to targeted therapies, demonstrating the value of incorporating proteomics into everyday clinical practice.
However, challenges remain. The cost of proteomics technology and the complexity of interpreting results pose significant hurdles. Insurance coverage is not guaranteed, and high costs may limit access. Additionally, clinicians need training to interpret proteomics results and to integrate them into care plans. Choosing the right tissue for testing is another consideration, as some procedures are invasive and may not be acceptable to all families. A practical approach may involve starting with easily accessible tissues, like blood, and progressing as needed.
