Polygenic risk scores
In the third part of the interview with Prof Qureshi, he covers polygenic risk scores, DTC testing, pharmacogenomics in the context of how management of genetic diseases is changing.
Patients may bring in over the counter genomic reports through direct to consumer testing (DTC). For example there may be pharmacogenomic data on the prescribing around statins. This may be challenging in trying ascertain the validity of the results from such testing. The RCGP have issued guidance through a position statement. More information on DTC will be provided in week 3 of this course
There is a lot of work being done in terms of FH through service delivery by NHS England.
Through research work and studies incidental findings may be reported back to the patient or possibly the GP. For example the The Our Future Health project, (formerly known as the Accelerating the Early Detection of Disease project) is considering the potential findings from whole genome sequencing and what is fed back to the patient or GP.
As we have seen, polygenic risk scores will develop and be increasingly used in risk stratification. However its clinical utility will need defining over time. The PHG Foundation has useful information:
- Polygenic risk scores general background
- Polygenic scores in cardiac disease
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