Reading and interpreting the genome — whole genome sequencing of patient DNA — is increasingly common in medical practice for developing and adequately deploying therapeutics. Better reading technologies have already helped to diagnose disease, genetic predispositions to disease, and even infections.¹¹ For example, the CRISPR-Cas system is enabling the fast detection of pathogens; Cas12a has detected Hepatitis B in less than 30 minutes.¹² More typically, sequencing is now possible in hours to days.¹³ Costs are also falling.¹⁴

Future Horizons:

×××

5-yearhorizon

Faster, cheaper, better diagnostics become available

CRISPR-based diagnostic methods are developed for a variety of targets, including cancer, viruses and other pathogens. Rapid, reliable, widespread whole-genome sequencing shortens rare-disease diagnosis and cancer diagnosis, prognosis and management. Cost drops to $100-$200 a genome.¹⁷ Therapeutic investment explodes. Genome targeting for pathogen diagnosis comes to point-of-care settings, including pharmacogenomics when drugs are prescribed. AI interprets sequencing.

10-yearhorizon

Genome-reading finds a broad range of applications

The time for whole-human-genome sequencing drops to an hour. Same-day diagnosis of cancers and rare diseases shortens time to treatment. Genome sequencing influences retirement plans and insurance. AI helps fill unmet need for genetic counsellors.

25-yearhorizon

Gene-reading goes mainstream

Rapid diagnostics enable to-go or home-based devices for pathogen detection and better prediction of complex diseases. Editing technology, combined with AI, obviates most genetic concerns over partner choice. Heritability and environmental conditions are included in assessments of polygenic risk scores for everything from cancer to obesity.

Faster, better, and cheaper diagnostics coming into the mainstream will act as a fact checker on the new generations of genome editors, detecting and preventing DNA editing errors. These technologies need to be further refined to ensure every laboratory can easily adopt them when in vivo editing becomes mainstream.

Much progress will be thanks to the new ability to do long read sequencing, more accurate than the previously more common usage of short read sequencing. This could identify more clinically relevant gene variants, and it could also provide epigenetic information that can bring epigenome editing to the clinic.¹⁵ Diagnostics will be able to tell patients what kind of gene therapy they are suited for, or even which interventions and lifestyle changes will most affect their chances of expressing a genetic disease. However, analysis and interpretation are a major bottleneck: a shortage of genetic counsellors is an increasing problem.¹⁶

Diagnostics - Anticipation Scores

The Anticipation Potential of a research field is determined by the capacity for impactful action in the present, considering possible future transformative breakthroughs in a field over a 25-year outlook. A field with a high Anticipation Potential, therefore, combines the potential range of future transformative possibilities engendered by a research area with a wide field of opportunities for action in the present. We asked researchers in the field to anticipate:

The uncertainty related to future science breakthroughs in the field
The transformative effect anticipated breakthroughs may have on research and society
The scope for action in the present in relation to anticipated breakthroughs.

This chart represents a summary of their responses to each of these elements, which when combined, provide the Anticipation Potential for the topic. See methodology for more information.