A rare disease is defined in the European Union as one that affects fewer than 1 in 2,000 people (1). The road to diagnosis, often termed the “diagnostic odyssey” can last for more than 5 years (2). A total of 80% of rare diseases have a genetic component (3) so the utilisation of Next-Generation Sequencing (NGS) technology can provide information on the underlying genetic etiology, resulting in a faster diagnosis. Uncovering the underlying causes reveals precision medicine treatment options for patients and can be of huge benefit for care standards and symptom management.
Complex diseases are multifactorial and have both genetic and environmental components. The genetic background of these diseases is often polygenic and does not follow a Mendelian pattern of inheritance. Many of the mutations responsible are in complex non-coding regions of the genome and recent developments in NGS technologies have made these regions more accessible for analysis and are accelerating complex disease research.
The field is required.