Current global genomics activity

In April 2025, an international team of researchers and clinicians published a review paper, summarising six priority areas of activity across several large-scale national and international genomics initiatives

These programmes aim to guide the development of precision medicine around the world, and some are operating on a massive scale, aiming to sequence the genomes of 1 million people each.

The authors noted that:

…as the field matures, national genomics programs are shifting focus from the diagnostic utility of genomics in rare diseases and cancer to sustainable and equitable clinical implementation.

1. participant involvement and public engagement
2. embedding ethical, legal, and social implications (ELSI) considerations into human genomics and genomic medicine research
3. increasing diversity across studies and programs.

…As national genomics programs mature, they increasingly look beyond their own national context to nurture collaborations and build expertise, with the aim of supporting equitable access to the benefits of genomic medicine internationally and ensuring that low- to middle-income countries and underrepresented populations are not left behind. Organizations such as the Global Alliance for Genomics and Health (GA4GH) and the Global Genomic Medicine Collaborative (G2MC) are important in building collaborative networks to advance the implementation of genomic medicine on a global scale. Prioritizing opportunities to share expertise and lessons learned, such as through the “Tanawwo” network (which means “diversity” in Arabic) formed by the Qatar Genome Program under the Qatar Precision Health Institute (QPHI) with representation from 17 low- and middle-income countries, is important to facilitate ongoing knowledge exchange and inform the design of genomics initiatives.

We can see that there is growing international recognition of the importance of building connections between all the different groups of people involved in genomics, including the patients and research participants who choose to share their whole genomes. One of the original models for this way of working was the 100,000 Genomes Project at Genomics England. Let’s take a look at that in more detail in the next step.

We can see that there is growing international recognition of the importance of building connections between all the different groups of people involved in genomics, including the patients and research participants who choose to share their whole genomes. One of the original models for this way of working was the 100,000 Genomes Project at Genomics England. In the next step, we will take a look at that in more details.

But first, please take part in the discussion below:

Discussion

What kind of genomics initiatives are underway in your country? Do they focus on research or genomic medicine, or a combination of the two? Are community representatives involved?

Do leave your comments below.