What is Genetics?
Genetics aims to look at variation in parts of genes that code for proteins to help us understand the cause of health problems and make predictions about future health. Genetics has five fundamental limitations:
- It doesn’t predict when a disease is likely to occur, only the life-time or year-on-year risk.
- It does not factor in the impact of environmental factors or ‘bad luck’ on risk calculations.
- It can be useful in predicting risk in well-described inherited diseases with a single gene cause but these are relatively rare. Genetics is less able to provide useful predictions in conditions with complex multifactorial causes or new diseases.
- Attempts at testing large populations for response to drugs or screening have proved relatively costly and had limited impact due to difficulties interpreting and using the results.
- Attempts at gene manipulation have to date been disappointing due to inability to target either the correct cell type to achieve a cure or inaccuracy in gene editing techniques
- Next generation sequencing and whole genome analysis which are able to identify variation in all of the genes and other areas of the genome much more quickly and cheaply.
- Improved clinical and genomic databases to aid comparisons and help interpretation of the significance of human variation.
- Use of storage and testing of fresh tumour tissue samples to identify new mutations that may be driving the cancer cells dividing out of control and not dying when damaged.
- Testing of free circulating Plasma DNA or RNA from tumours of the placenta as well as other chemical changes in the blood due to changes in the genomes.
- Microbiomics involving testing the DNA in micro-organisms either naturally within our bodies or known variants in pathogenic organisms such as malaria or tuberculosis which may help tackle antibiotic resistance and track outbreaks of infection.
- Improved analysis of variants in genes involved in drug metabolism.
- Near patient testing for specific mutations with results available within three hours for either predicting response to a particular drug or identifying a bacteria or virus in a patient either in primary care or within a hospital setting.
- Improved targeted genetic manipulation such as three person embryos and gene editing.
- Improved IT systems to calculate and model the impact of human variation and present the findings in a useful format for patients and their clinicians.
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