London BRCA screening programme identifies just 1 in 38 carriers

  • Manchanda R & al.
  • J Med Genet
  • 5 Apr 2018

  • from Dawn O'Shea
  • UK Medical News
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The NHS BRCA carrier identification project has identified just 2.6% of total estimated carriers and 5.1% of detectable carriers in the Greater London and bordering areas, according to figures published the Journal of Medical Genetics.  

The research, led by Barts Cancer Institute at Queen Mary University of London, found identification rates were higher in the Ashkenazi Jewish (AJ) population. However, even in this population, only 10.9% of total estimated and 24.9% of detectable AJ carriers were identified.

The study authors say continuing at the current detection rate, the NHS will not be able to identify detectable BRCA-carriers in the general population. Even at double the current rate, it would take until 2181 to identify ‘detectable’ carriers. The current detection rate for AJ carriers will identify detectable carriers by 2044 while doubling the rate can do so by 2025.

“Continuing at the 2014 identification rate, the NHS is unable to identify the detectable pool of BRCA carriers in the general population, while it will take 30 years to identify the detectable BRCA carriers in the AJ population,” the authors concluded.

“Even if the rate doubled it will take ~167 years to identify the detectable pool of BRCA carriers and if it tripled, it could still take 79 years, with an exponential parabolic increase making it 70 years to identify detectable BRCA carriers in the general population. To expect a tripling or exponential increase is unrealistic,” they said.