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Clinical application of whole genome sequencing in young onset dementia: challenges and opportunities.

Aamira J HuqBryony ThompsonIngrid Winship
Published in: Expert review of molecular diagnostics (2024)
WGS, when used as the initial genetic test, can enhance the likelihood of a precision diagnosis and curtail the time taken to reach this. Finding a clinical diagnosis using WGS can reduce invasive and expensive investigations and could be cost effective. These advances need to be balanced against the limitations of the technology and the genetic counseling needs for these vulnerable patients and their families.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • genome wide
  • mild cognitive impairment
  • prognostic factors
  • gene expression
  • patient reported outcomes
  • human immunodeficiency virus