title: Advances in genomic testing.
abstract: BACKGROUND
  Advances in genomic technology and our understanding of Mendelian disease-causing genes have led to an increased use of genomic testing in clinical practice.
  
  
  OBJECTIVE
  The aim of this paper is to outline recent advances in genetic and genomic testing and the implications for clinical practice.
  
  
  CONCLUSIONS
  Next-generation genomic sequencing is improving the diagnostic yield for patients with suspected genetic disease. A molecular diagnosis for a patient with genetic disease can provide information regarding a patient's prognosis, management and reproductive risk, and identify molecular targets for treatment. However, genomic testing frequently identifies variants of uncertain significance. This is illustrated by two case examples.
authors.forename: Sarah
authors.initials: S
authors.lastname: Donoghue
authors.forename: Lilian
authors.initials: L
authors.lastname: Downie
authors.forename: Chloe
authors.initials: C
authors.lastname: Stutterd
mesh_terms: D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods* / Q000639:trends*; D023281:Genomics / Q000379:methods; D006801:Humans; D057285:Precision Medicine / Q000379:methods; D017422:Sequence Analysis, DNA / Q000639:trends