Table 2

Overview of opportunities and challenges associated with next generation sequencing (NGS) and genomic medicine

OpportunitiesChallenges
High throughput:

  •  More comprehensive at reduced cost

High throughput:

  •  Informatic burden of data processing and storage

Diagnosis:

  •  Mendelian diseases such as LQT and HCM

  •  Diagnosis of sporadic cases with genetic disease

  •  Molecular autopsy following sudden death

  •  Prenatal diagnosis

Diagnosis:

  •  Discriminating disease causing variants from rare benign variants

Personalised medicine:

  •  Treatment targeted to a molecular defect

  •  Treatment stratification by genotype

  •  Predicting drug response

Ethical concerns:

  •  Data protection

  •  Prenatal diagnosis

  •  Unexpected findings such as non-paternity or a genetic abnormality unrelated to presentation

Training:

  •  Inclusion of genomic medicine in training curricula

  • HCM, hypertrophic cardiomyopathy; LQT, long QT syndrome.