Longevity briefs provides a short summary of novel research in biology, medicine, or biotechnology that caught the attention of our researchers in Oxford, due to its potential to improve our health, wellbeing, and longevity.
Why is this research important: Genomics is the study of the entire genome of organisms. Starting with the launch of the Human Genome Project that succeeded in sequencing the first entire human genome, over the last thirty years, genomics has progressively established a key role in health research.
What once took 13 years and cost around $3 billion, now takes less than a day and costs just a few hundred dollars.
Research and breakthroughs in this relatively young field increasingly demonstrate how genomic information can be effectively used in practice.
What did the researchers do: A review recently published in Nature discusses the highest-priority elements to maintain the explosive progression that the field of genomics has exhibited in the last few decades, and looks forward to what the future of genomics might hold.
Key takeaway(s)from this research: The authors offer ten bold predictions of what might be realised in human genomics by 2030:
Generating and analysing a complete human genome sequence will be routine for any research laboratory, becoming as straightforward as carrying out a DNA purification.
The biological function(s) of every human gene will be known; for non-coding elements in the human genome, such knowledge will be the rule rather than the exception.
The general features of the epigenetic landscape and transcriptional output will be routinely incorporated into predictive models of the effect of genotype on phenotype.
Research in human genomics will have moved beyond population descriptors based on historic social constructs such as race.
Studies that involve analyses of genome sequences and associated phenotypic information for millions of human participants will be regularly featured at school science fairs.
The regular use of genomic information will have transitioned from boutique to mainstream in all clinical settings, making genomic testing as routine as complete blood counts.
The clinical relevance of all encountered genomic variants will be readily predictable, rendering the diagnostic designation ‘variant of uncertain significance (VUS)’ obsolete.
An individual’s complete genome sequence along with informative annotations will, if desired, be securely and readily accessible on their smartphone.
Individuals from ancestrally diverse backgrounds will benefit equitably from advances in human genomics.
Breakthrough discoveries will lead to curative therapies involving genomic modifications for dozens of genetic diseases.