Inaccurate naming of genetic diseases is resulting in some rare genetic diseases needlessly being undiagnosed, University of Manchester scientists warn. A Nature Genetics communication paper, published today adds to existing data that around 6,000 UK children a year with rare illnesses never receive a diagnosis, many dying without knowing what caused them. The researchers also emphasize existing research that calculates the cost of pursuing lengthy diagnostic journeys for rare genetic diseases to the NHS at over £3 billion per decade.
Hospital geneticists rely on published evidence to make diagnoses, but because of inconsistent variant naming, say the authors, they are often unable to locate relevant information, even if it exists. Many geneticists, they say, are using simpler but less accurate nomenclature, preventing databases like ClinVar and the Leiden Open Variation Database (LOVD) from properly identifying and adding literature to their records. However, a system called VariantValidator devised by researchers at the University of Leicester and now based at The University of Manchester is being used by leading medical journals to give each variant a standardized name.
That allows diagnostic evidence to be shared and found. In the communication paper, the authors urge doctors to use the system to name genetic variants. Though rare diseases, caused by variations in DNA sequences, affect fewer than 1 in 2,000 people, the sheer number of rare genetic disorders at around 8,0.
