Comment

Bruce Budowle and Antti Sajantila reflect on how short tandem repeats (STRs) became the primary markers of forensic genetics, including for developing investigative leads in criminal cases and humanitarian efforts.

Geopolitical instability has prompted renewed discussions on the risks of DNA technology being weaponized in international conflict. With today’s changing security environment, the authors argue that risk assessments must be broadened from genetically targeted weapons to a series of new domains.

In this Comment, Ahmad Abou Tayoun advocates for studies inclusive of historically under-represented populations to ensure equitable global access to genomic newborn screening.

In April 2023, leading experts met with members of US Congress to discuss strategies to ensure global food security. Following on from this, Pamela Ronald emphasizes the role that plant genetics has in achieving these goals.

Lacaze et al. caution against the use of polygenic scores alone for population screening in the absence of monogenic testing.

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.

Somatic mutations accumulate with age in the genome of healthy individuals. Franco and Eriksson posit that recent sequencing data indicate a functional role for this increased mutational load in ageing and age-associated diseases.

To mark the bicentenary of Gregor Mendel’s birth, the authors reflect on progress in the application of genetics and genomics to delivering a cure for sickle cell disease, a classic Mendelian disorder.

On the occasion of Gregor Mendel’s bicentenary, the authors reflect on the history of the terms dominant and recessive, and their current use in medical genetics.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.