Genetic testing articles within Nature Reviews Genetics

Featured

  • Review Article |

    Genomic technologies have greatly improved the diagnosis of rare genetic diseases. Here, the authors review emerging approaches for the identification of disease-causal genetic variants as well as omic technologies that show great potential for variant interpretation.

    • Kristin D. Kernohan
    •  & Kym M. Boycott

  • Review Article |

    This Review summarizes the genetic and non-genetic factors that impact the transferability of polygenic risk scores (PRSs) across populations, highlighting the technical challenges of existing PRS construction methods for diverse ancestries and the emerging resources for more widespread use of PRSs.

    • Linda Kachuri
    • , Nilanjan Chatterjee
    •  & Tian Ge

  • Journal Club |

    Sérgio Pena discusses a 2019 study by Gruhn et al., which showed that meiotic chromosome segregation errors originating in oocytes determine the curve of female fertility in humans.

    • Sergio D. J. Pena

  • Review Article |

    Differences of sex development (DSD) are under-diagnosed, partly because of the complexity of conditions included under this umbrella terminology. This Review discusses the potential of genomic approaches to improve variant detection, molecular diagnosis and outcomes for individuals with DSD.

    • Emmanuèle C. Délot
    •  & Eric Vilain

  • Review Article |

    Population-scale testing is an essential component of responses to the COVID-19 pandemic and is likely to become increasingly important in public health. Here, Mercer and Salit describe the roles of testing during the COVID-19 pandemic, including in genomic surveillance, contact tracing and environmental testing.

    • Tim R. Mercer
    •  & Marc Salit

  • Comment |

    As highlighted by the COVID-19 pandemic, digital solutions are becoming essential for the provision of clinical genetics services. However, as this Comment emphasizes, the use of digital tools alone can exacerbate genomic and technological disparities and must be balanced with the merits of face-to-face interactions.

    • Yvonne Bombard
    •  & Robin Z. Hayeems

  • Comment |

    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

  • Review Article |

    This Review discusses the current status of expanded carrier screening, including existing recommendations and limitations. The author reviews the framework that is needed for successful comprehensive carrier screening programmes for all autosomal recessive disorders in various populations.

    • Stylianos E. Antonarakis

  • Research Highlight |

    A new study reports a genome-wide polygenic score (GPS) that is predictive of obesity, thus providing opportunities for early health interventions.

    • Darren J. Burgess

  • Comment |

    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

  • Comment |

    Variants of unknown significance (VUS) are genetic variants whose association with disease risk is unknown. The authors posit that VUS should not inform clinical decision-making as the benefits of returning this genetic information to patients undergoing genetic testing are outweighed by the potential for harm.

    • Samantha Pollard
    • , Sophie Sun
    •  & Dean A. Regier

  • Research Highlight |

    The BabySeq project, a pilot randomized clinical trial exploring the value of routine genomic sequencing of neonates compared with standard newborn screening, now reports initial results in the American Journal of Human Genetics.

    • Linda Koch

  • Comment |

    The lack of family health history experienced by most adopted persons can represent a marked disadvantage for these individuals. Genetic testing has the potential to reliably and usefully fill informational gaps, but considerable challenges need to be addressed to assemble an economic case for affordability.

    • Thomas May

  • Comment |

    Genome-wide sequencing (GWS) is the most sensitive test available for detecting pathogenic genetic variants but it generates complex results. It is important, therefore, that individuals undergoing GWS are offered both pre-test and post-test genetic counselling.

    • Alison M. Elliott
    •  & Jan M. Friedman

  • Comment |

    Current approaches for diagnosing mitochondrial disorders involve specialist clinical assessment, biochemical analyses and targeted molecular genetic testing. There is now a strong rationale for undertaking first-line genome-wide sequencing, accelerating the speed of diagnosis and avoiding the need for expensive and invasive investigations.

    • F. Lucy Raymond
    • , Rita Horvath
    •  & Patrick F. Chinnery

  • Review Article |

    Polygenic risk profiling can lead to actionable outcomes for individuals at high risk of developing a subset of common adult-onset polygenic diseases. The authors review recent studies that have demonstrated the utility of polygenic risk scores for disease risk stratification and their potential impact on early disease detection, prevention, therapeutic intervention and life planning.

    • Ali Torkamani
    • , Nathan E. Wineinger
    •  & Eric J. Topol

  • Comment |

    A recent patent granted for methods for diagnosing autism spectrum disorder (ASD) raises several ethical concerns beyond the fundamental question of whether genomic sequences are patentable, as it suggests that genetic testing can provide a diagnosis of ASD even before behavioural symptoms present.

    • Kristien Hens
    • , Ilse Noens
    •  & Jean Steyaert

  • Science and Society |

    Next-generation sequencing is fuelling a rise in the number of genomic diagnostic tests, which compete with existing interventions for limited health-care budgets. This Perspective presents key approaches and challenges that must be considered by decision-makers assessing the relative cost-effectiveness of new genomic tests.

    • Katherine Payne
    • , Sean P. Gavan
    •  & Alexander J. Thompson

  • Review Article |

    Various large studies have provided unprecedented insights into the genetics of autism spectrum disorders (ASDs). This Review discusses the challenges and opportunities of translating genetic and biological insights into clinical progress for ASDs, in areas including genetic testing, ASD classification, genetic counselling, comorbidities and therapeutics.

    • Jacob A. S. Vorstman
    • , Jeremy R. Parr
    •  & Joachim F. Hallmayer

  • Timeline |

    This Timeline article reviews the evolution of both prenatal and pre-implantation genetic testing, from their historic origins to ongoing development and implementation of tools for genome-wide single-cell and cell-free fetal DNA analysis. Future developments and some of the ethical issues that arise from these new technologies are also discussed.

    • Joris Robert Vermeesch
    • , Thierry Voet
    •  & Koenraad Devriendt

  • Science and Society |

    The authors provide a comprehensive survey of international legislation and policies guiding the return of whole-genome-sequencing-based genetic testing results to patients or study participants, within the context of both clinical and research settings.

    • Bartha Maria Knoppers
    • , Ma'n H. Zawati
    •  & Karine Sénécal

  • Review Article |

    Large-scale genetic perturbation screens have been central to many biological discoveries. This Review outlines the recent advances in the quantification of various perturbations across large numbers of single cells simultaneously and describes the use of genetic perturbation screens to infer functional interactions between genes and phenotypes.

    • Prisca Liberali
    • , Berend Snijder
    •  & Lucas Pelkmans

  • Viewpoint |

    We asked five experts their opinions on issues that arise from new clinical tests that are based on next-generation sequencing. Crucial gaps in infrastructure need to be addressed for the results of these tests to be optimally handled.

    • Leslie G. Biesecker
    • , Wylie Burke
    •  & Ron Zimmern

  • Viewpoint |

    Direct-to-consumer (DTC) genetic tests allow individuals to learn about their health or that of their future offspring. Should we protect individuals from potentially misleading genetic information about themselves or should we assume that adults who seek DTC services can interpret the genetic findings even without the intervention of a health professional? We present five different perspectives on whether DTC genetic tests should be regulated and, if so, how.

    • Felix W. Frueh
    • , Henry T. Greely
    •  & Sue Siegel

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