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  • In this Comment, the authors highlight caveats about using African ethnicities as population categories in genomics research and emphasize the need for an Africa-oriented humanities research agenda to inform genomics research.

    • Henri-Michel Yéré
    • Mavis Machirori
    • Jantina De Vries
  • Individual cells in the same induced pluripotent stem cell (iPSC)-derived clones can exhibit large heterogeneity. In this Comment, Carelli et al. discuss emerging evidence implicating variants in mitochondrial DNA, and highlight the need for routine screening of iPSCs.

    • Valerio Carelli
    • Michio Hirano
    • Patrick F. Chinnery
  • 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
  • Variants in mitochondrial DNA (mtDNA), which are detectable in whole-genome sequencing (WGS) data, can cause a wide range of phenotypes of varying severity. The authors call for a wider debate on the communication of uncertainties around mtDNA variants and the risks versus benefits of screening.

    • William L. Macken
    • Anneke M. Lucassen
    • Robert D. S. Pitceathly
  • This Comment discusses recent studies supporting the existence of concatenated mitochondrial DNA (mtDNA) segments integrated into the nuclear genome, which may explain previous observations suggesting the existence of a biparental mode of mtDNA inheritance.

    • Alistair T. Pagnamenta
    • Wei Wei
    • Patrick F. Chinnery
  • In Africa, there is a disparity in ethics and permission requirements for molecular research on samples from living people versus ancient DNA. At the precipice of the archaeogenomics revolution, heritage agencies require updated policies and procedures for genetic and genomic research on African ancient DNA.

    • Victoria E. Gibbon
  • Thirty years on from the launch of the Human Genome Project, Richard Gibbs reflects on the promisesthat this voyage of discovery bore. Its success should be measured by how this project transformed the rules of research, the way of practising biological discovery and the ubiquitous digitization of biological science.

    • Richard A. Gibbs
  • 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
  • Comparative studies struggle to balance technical properties with the need to obtain samples from multiple species. The authors argue for extensive record keeping and reporting of metadata to minimize the effect of confounders and increase the robustness of inferences from these studies.

    • Joanna L. Kelley
    • Yoav Gilad
  • 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
  • Genomic studies often rely on individual-based consent approaches for tribal members residing outside of their communities. Tsosie et al. argue that this consent model fails to acknowledge the risks to small groups such as tribes, which can implicate the community as a whole.

    • Krystal S. Tsosie
    • Joseph M. Yracheta
    • Donna Dickenson
  • 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
  • A genomics-informed response to infectious disease has great potential to improve individual patient treatment as well as public health. This Comment discusses the ethical, legal and social challenges that will need to be overcome if clinical pathogen genomics is to be implemented successfully.

    • Stephanie B. Johnson
    • Michael Parker
  • 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
  • This Comment discusses how data from smartphones or wearables could be used for behavioural phenotyping, knowledge that may help to reveal the genetic and environmental contributions to disease-related behavioural variation.

    • Nelson B. Freimer
    • David C. Mohr
  • 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
  • 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