Health care articles within Nature Reviews Genetics

Featured

  • Perspective |

    This Perspective reviews large-scale genomics and longitudinal phenomics efforts and the insights they can provide into wellness. The authors describe their vision for the transformation of the current health care from disease-oriented to data-driven, wellness-oriented and personalized population health.

    • James T. Yurkovich
    • , Simon J. Evans
    •  & Leroy E. Hood

  • Review Article |

    In this Review, the authors summarize the current evidence for the use of genomic sequencing in newborn screening for rare diseases. As several large-scale studies launch internationally, the authors discuss major challenges and opportunities that lie ahead and identify key research priorities.

    • Zornitza Stark
    •  & Richard H. Scott

  • Review Article |

    In this Review, Munir Pirmohamed provides an overview of the current state of the pharmacogenomics field, using examples of clinically relevant drug–gene associations, before outlining the steps needed for implementation of pharmacogenomics into clinical practice. The role of pharmacogenomics in drug discovery and development is also considered.

    • Munir Pirmohamed

  • In Brief |

    Flotte et al. describe the first test of adeno-associated virus-based gene therapy for Tay-Sachs disease in humans. Delivery to the thalamus and cerebrospinal fluid was found to be broadly safe, providing a firm basis for future clinical trials.

    • Dorothy Clyde

  • Review Article |

    The authors review the field of mammalian mitochondrial genome engineering, culminating in the recent development of mitochondrially targeted programmable nucleases and base editors. They describe research that led to the development of animal models of mitochondrial disease, as well as the potential for translating these approaches to the clinic.

    • Pedro Silva-Pinheiro
    •  & Michal Minczuk

  • Review Article |

    Genome-wide association studies (GWAS) have revealed important biological insights into complex diseases. The authors review approaches that leverage GWAS to identify opportunities for repurposing existing drugs, including single-loci mapping to drug targets, transcriptome-wide association studies, gene-set association, causal inference by Mendelian randomization and polygenic scoring.

    • William R. Reay
    •  & Murray J. Cairns

  • Comment |

    In this Comment, Balogun and Olopade highlight opportunities and initiatives for incorporating genomics into cancer management to promote health equity.

    • Onyinye D. Balogun
    •  & Olufunmilayo I. Olopade

  • Review Article |

    Synthetic biology has enabled the development of engineered cells that can serve as ex vivo or in vivo diagnostic tools or therapeutic delivery systems. This Review discusses preclinical and clinical applications of bacterial and mammalian theranostic cells as well as their underlying biological designs and remaining hurdles to their successful clinical application.

    • Monica P. McNerney
    • , Kailyn E. Doiron
    •  & Pamela A. Silver

  • 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

  • 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 |

    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 |

    In personalized medicine, a major aim is to provide the right treatment to the right patient. In this Comment article, Gibson discusses how a more overt and genomics-informed focus on those individuals who are unlikely to benefit from treatment could reduce prescription rates and provide financial and health-care benefits.

    • Greg Gibson

  • Research Highlight |

    Two studies in Nature describe the full data set of the UK Biobank resource, which contains genome-wide genetic data, clinical measurements and health records for ~500,000 individuals, and reveal insights into the brain’s genetic architecture.

    • Orli G. Bahcall

  • 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

  • Review Article |

    Various types of observational studies can provide statistical associations between factors, such as between an environmental exposure and a disease state. This Review discusses the various genetics-focused statistical methodologies that can move beyond mere associations to identify (or refute) various mechanisms of causality, with implications for responsibly managing risk factors in health care and the behavioural and social sciences.

    • Jean-Baptiste Pingault
    • , Paul F. O’Reilly
    •  & Frank Dudbridge

  • 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

  • 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

  • Review Article |

    The emerging field of paediatric genomics has leveraged the power of next-generation sequencing technologies to improve the diagnostic rates of rare disease in children. This Review addresses key considerations for safe and effective implementation of genomics in the clinic.

    • Caroline F. Wright
    • , David R. FitzPatrick
    •  & Helen V. Firth

  • Review Article |

    Genetic architecture describes the characteristics of genetic variation that are responsible for phenotypic variability. This Review discusses the types of genetic architecture that have been observed, how they can be measured and how genetic architecture informs the scientific and clinical goals of human genetics.

    • Nicholas J. Timpson
    • , Celia M. T. Greenwood
    •  & J. Brent Richards

  • Review Article |

    Next-generation sequencing has the potential to support public health surveillance systems to improve the early detection of emerging infectious diseases. This Review delineates the role of genomics in rapid outbreak response and the challenges that need to be tackled for genomics-informed pathogen surveillance to become a global reality.

    • Jennifer L. Gardy
    •  & Nicholas J. Loman

  • Review Article |

    Advances in genetics and genomics have transformed the field of organ transplantation. Here, the authors review the role of genetic dissimilarities between donor and recipient in transplant tolerance and rejection, and how the identification of genetic variants that predict adverse transplant outcomes can be used for personalized medicine.

    • Joshua Y. C. Yang
    •  & Minnie M. Sarwal

  • 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

  • Essay |

    The advent of genomic technologies is changing health care systems, with genomic data increasingly being applied to guide individual patient care. In this Essay, Rehm discusses how genomics is becoming an essential part of clinical care and the existing challenges that must be surmounted to take full advantage of personal genomic information.

    • Heidi L. Rehm

  • Review Article |

    Common diseases have complex aetiology involving the interplay of genetic susceptibility and environmental risk factors. Here, the authors describe methods for building and evaluating models for the prediction of disease risk based on information from genetic testing and environmental factors, and use case studies to illustrate the potential of such models in the prevention of diseases.

    • Nilanjan Chatterjee
    • , Jianxin Shi
    •  & Montserrat García-Closas

  • 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

  • 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

  • Review Article |

    Aneuploidy is the leading cause of congenital defects in humans and nearly always results from errors occurring in oocytes. Here, the authors review the evidence pointing towards the mechanistic basis of meiotic defects leading to aneuploidy and discuss the potential role of environmental factors.

    • So I. Nagaoka
    • , Terry J. Hassold
    •  & Patricia A. Hunt

  • Science and Society |

    Participant-centred initiatives use social media technologies to allow long-term interactive partnerships to be established between study participants and researchers. These varied initiatives improve research governance and quality and give participants greater knowledge of and control over how their data are used.

    • Jane Kaye
    • , Liam Curren
    •  & Stefan F. Winter

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