Genetic services

Genetic services are provisions to diagnose and advise individuals with risk factors for genetic disorders. Individuals with family members who have such disorders are often at risk of developing the disorder themselves. Genetic services include genetic testing and genetic counselling. Patient education often has a prominent role.

Latest Research and Reviews

News and Comment

  • Research Highlights |

    Long QT syndrome (LQTS) is the most common inherited cardiac arrhythmia and has been associated with mutations in 17 different genes; however, the evidence that many of these genes are actually causative for LQTS is limited or disputed.

    • Gregory B. Lim
  • Comments & Opinion |

    Direct-to-consumer epigenetic tests have the potential to reveal sensitive information about individuals, such as disease risk and exposure history. Yet regulation lags behind purely genetics-based tests. In this Comment article, the authors discuss the salient ethical and legal considerations of direct-to-consumer epigenetic tests.

    • Charles Dupras
    • , Elisabeth Beauchamp
    •  & Yann Joly
  • Comments & Opinion |

    The clinical application of genomic technologies is driving new discoveries that may be relevant to individuals who have previously undergone genetic testing. This Comment highlights the need for a framework to decide whether to recontact patients and inform them of new genetic findings.

    • Noor A. A. Giesbertz
    • , Wim H. van Harten
    •  & Annelien L. Bredenoord
  • News & Views |

    Chronic kidney disease (CKD) is often clinically silent and traditional clinical data alone cannot differentiate disease subtypes. A recent study of the genetic basis of CKD in adults that examined the prevalence of monogenic kidney disease aetiologies supports the use of genetic analysis to improve diagnostics and treatment in CKD.

    • Asaf Vivante
    •  & Karl Skorecki