Annex A: Key technologies and terms
Epigenetics – Layer of chemical information that sits on top of DNA that regulates how DNA is used (but not the DNA itself), when genetic information is used and what proteins are produced. Epigenetic profiles aren’t always stable and can be impacted by environmental factors. A key focus of epigenetic research is the underlying hereditary causes of cancer and cognitive decline.
Functional genomics – research aimed at analysing and understanding the core aspects of genomics (including DNA, RNA, proteins and metabolites, along with their modifications) that link the observable characteristics of a person (the phenotype) to the correlation of underlying genetic characteristics (the genotype) and the contextual environmental conditions.
Genetics – The study of a section of DNA which in turn, carries out a specific function. Genes are arranged along chromosomes and consist of a sequence of DNA that is transcribed to produce a protein or an RNA product. These products carry out biological functions inside or outside the cell or regulate the activity of other genes.
Genomics, genome – the study of an entire unique DNA sequence belonging to (in this instance) a person that provides the fundamental instructions as to how we develop, heal and behave.
Genome Wide Association Study (GWAS) – An analytical method in which broad areas of a genome are compared to traits and characteristics to find areas of possible correlation. Common DNA variations (typically single-nucleotide polymorphisms, or SNPs, but it can be other types of variation) are compared to a trait or behaviour in a population to see if any variant correlates with the trait. GWASs do not directly show which gene or DNA variant is causally responsible for variation in the trait. They indicate locations on the genome from where the signal is originating. These regions are then followed up in further experiments designed to assess the likely pathways they act on, and their impact on gene function and regulation.
Genomic testing – a wide array of genomic testing is possible and this can include:
- Predictive testing
- Diagnostic testing
- Forensic testing
Phenotypes – the observable traits or aspects of a person as determined by their genomes and environment. For example, physical traits such as height or weight, quantifiable behaviours or symptoms.
Multiomic analysis – large scale biological analysis drawing upon multiple data sources including (but not limited to) genomic, epigenomic, microbiome and proteomics to achieve higher quality predictive analysis. The approach is usually combined with AI-based processing given the large quantities of data generated.
Non-invasive prenatal tests (NIPT) – a test undertaken during pregnancy that seeks to identify genetic and genomic markers that may identity particular conditions or chromosomal markers such as Downs Syndrome.
Polygenic risk scoring (PRS) – a cumulative measure of genetic liability for a person based on the summed effects of many thousands of risk variants distributed throughout the genome.
Whole genome sequencing (WGS) – the process of revealing a complete DNA sequence of an entire genome. This can be achieved through:
- Short read sequencing in which fragments of DNA (usually some 100-500 base pairs) are analysed separately before bioinformatic techniques are used to create a full sequence.
- Long read sequencing that uses larger fragments (usually 10,000 – 100,000 base pairs) without the need for stitching results together from smaller samples.