Reasons for using whole genome sequencing in babies

There are a number of possible reasons for carrying out whole genome or exome sequencing in babies, including:

  • Seeking a diagnosis for a seriously ill baby with a suspected genetic disease.
  • Predicting how a baby will respond or react to medicines they might need now or in the future.
  • Predicting a baby’s chance of developing disease in childhood or adulthood.
  • Finding out about genetic factors that could affect other children that the parents or other family members might go on to have.
  • Creating research databases of individuals’ genome sequences in order to study genetics and disease for the benefit of others.

As well as information about diseases of different types, whole genome sequencing has the potential to reveal information about non-health traits, family relationships, and genetic variations of uncertain or unknown significance.

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