Thanks to declining prices, faster analysis speeds and strengthened bioinformatics capabilities, the use of clinical DNA sequencing is rapidly accelerating, especially for rare disease diagnosis. The European definition of a rare disease is an illness that affects less than 1 person out of 2,000 in the general population. Currently, approximately 7,000 rare diseases have been identified in medical research and literature, with 5 new diseases being added each week. Rare diseases affect an estimated 5% of the population, with 75% of rare diseases beginning during childhood years. Genomics and DNA sequencing is extremely useful in the realm of rare diseases, due to each rare disease having a strong genetic component. Genomics England’s 100,000 Genomes Project has read the DNA of 16,150 people since 2015, with 20% to 25% of the analyses pointing towards “potentially actionable” diagnoses, in which the patient can treat a condition through therapy or lifestyle changes. To date, over 2,000 scientists around the world are participating in data analysis of the 100,000 Genomes Project.
Source: Financial Times