The identification and treatment of rare diseases through genomic testing is a vital step toward improving healthcare outcomes for individuals living with a rare disease or condition.
The Association of Clinical Genomic Science' (ACGS) positioning statement 'Rare disease genomic testing in the UK and Ireland' highlights the importance of timely and equitable access to rare disease genomic testing, and is available to read in the Journal of Medical Genetics here: ACGS Position Statement).
This initiative provides best practice guidance across the UK and Ireland, helping to ensure that patients receive accurate diagnoses and appropriate treatment in a timely manner.
For individuals and families affected by rare diseases, genomic testing offers several key benefits. First, it enables early and accurate diagnosis, which is essential for creating personalised care plans that can significantly improve quality of life. By identifying the exact nature of a rare condition, clinicians can tailor treatment and management strategies to reduce complications and symptoms. Access to testing can shorten the journey to diagnosis, offering clarity and direction for families.
Additionally, early identification through genomic testing allows patients to explore innovative therapies and clinical trials, which may be critical in managing or treating rare diseases.
By promoting equitable access to genomic testing, healthcare systems can help ensure that individuals with rare conditions receive the same opportunities for effective care as those with more common illnesses. This approach not only enhances patient care but also supports research into treatments and future advancements.