Featured this month, a forensic biobank project in Kenya, a Belgian metagenomic sequencing study in cystic fibrosis patients, and the first step toward adopting HPV self-collection in Spain.
A Kenyan forensic database
The first study comes from a Kenyan research group that aimed to establish a forensic biobank to generate comprehensive genetic frequency data for Kenya’s population.
A total of 893 samples—representing different ethnic groups and reflecting Kenya’s current population—were collected from the oral cavity and stored long-term on nucleic acid cards. The swab-collected samples were also used for DNA extraction.
To date, 132 high-quality mitogenome sequences have been generated and will support the production of additional data from other Kenyan regions, including Y-chromosome haplotypes and autosomal STRs.
This forensic biobank will also be an invaluable resource to help validate emerging forensic genetic technologies.
Improving cystic fibrosis diagnostics and treatment
Chronic lung infection and inflammation significantly affect disease progression in patients with cystic fibrosis, and treatment typically relies on culturing pathogens from respiratory samples.
However, this approach is time-consuming and can miss difficult-to-culture microbes, such as Mycobacterium spp.
In a Belgian proof-of-concept study involving 13 patients, researchers assessed the use of shallow metagenomic shotgun sequencing for pathogen detection in sputum, oropharyngeal, and salivary samples, comparing it to clinical culture and 16S rRNA V4 amplicon sequencing.
Shotgun sequencing outperformed culture and amplicon methods, identifying key cystic fibrosis–related pathogens and differentiating closely related species that 16S sequencing could not.
These results indicate that shallow shotgun sequencing improves pathogen detection and microbial profiling, offering potential for better clinical insights, personalized treatments, and improved patient outcomes.
The first step to HPV self-collection implementation in Spain
The Spanish region of Catalonia launched a pilot initiative in 2021 as part of its transition from opportunistic cytology-based screening to a population-based HPV screening program.
The program combined home-based HPV self-sampling with pharmacy-based kit distribution, coordinated by a central office that also managed invitations, reminders, and follow-up for HPV-positive cases.
Over nearly two and a half years, more than six thousand women were invited to participate, achieving an adherence rate of 80.9%. Among HPV-positive women, compliance with triage cytology reached 98.7%, and with colposcopy, when required, 97.2%.
The detection rate for CIN2+ lesions was 3.6% overall and 13.1% among HPV-16-positive women — values consistent with international data.
Overall, the researchers highlight the feasibility, acceptability, and effectiveness of this model, which anticipates a fully population-based program launched in 2024 and expanding nationwide in 2025.
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