Highlights from Frontiers in Genetics

Genetics moves fast - from national genomic services to AI-driven diagnosis - and researchers publishing with Frontiers in Genetics are at the forefront of these shifts. This month, we look at the themes making waves in the journal and the standout papers shaping conversations in the field.

1. Next-generation sequencing in cancer care

Next-generation sequencing (NGS) is reshaping oncology. Recent work explores how NGS improves precision in diagnosis and treatment, while also flagging barriers such as cost and data interpretation. Personalized medicine is no longer on the horizon, it’s happening now.

Read our pick: Next-generation sequencing impact on cancer care: applications, challenges, and future directions in Cancer Genetics and Oncogenomics.

2. Tackling stigma in rare disease testing

Genetic testing can empower patients, but stigma often delays diagnosis and treatment. Authors are calling for more awareness and better support systems to ensure testing brings benefits without additional burdens.

Read our pick: Stigma associated with genetic testing for rare diseases—causes and recommendations in Genetics of Common and Rare Diseases.

3. Decoding Duchenne muscular dystrophy

Subtle genetic variations matter. By pinpointing specific mutations in Duchenne muscular dystrophy, researchers are enabling more accurate diagnoses and targeted therapies, a brilliant illustration of personalized medicine in practice.

Read our pick: The complex landscape of DMD mutations: moving towards personalized medicine in Genetics of Common and Rare Diseases.

4. Building national genomic medicine services

Rolling out genomic medicine at scale isn’t simple. A UK study highlights staffing gaps and digital hurdles in creating a nationwide service for pediatric rare diseases. Their lessons could guide similar efforts worldwide.

Read our pick: “A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England in Human and Medical Genomics.

5. AI for rare disease diagnosis

Artificial intelligence is increasingly paired with sequencing technologies to cut through complex genetic datasets. The potential? Faster, more accurate diagnosis of rare diseases and the chance to uncover variants that were previously hidden.

Read our pick: Artificial intelligence and database for NGS-based diagnosis in rare disease in Computational Genomics.

Why These Trends Matter

Together, these insights reveal three major directions for the field:

• Personalization – tailoring treatments to genetic variation.

• Equity – ensuring access, reducing stigma, and addressing barriers.

• Acceleration – harnessing AI to move from data to diagnosis more quickly.

These themes highlight how genetics is not just advancing science but also changing lives.

Explore more in Frontiers in Genetics and consider contributing your own work to the conversation.