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NHS pilot study launched into new genetic testing approach for heart disease prediction.

By January 21, 2022No Comments

A new NHS pilot study into genetic testing for common diseases has been launched. The HEART study (Healthcare Evaluation of Absolute Risk Testing) is a world-first and will be examining the potential prevention of common diseases through the use of genetic assessment techniques. More specifically, it will focus primarily on using genetic information “to augment cardiovascular disease (CVD) risk assessment by NHS GPs”.

If extended to all individuals aged 45–64 years in England, it is estimated that the test would identify 700,000 extra people whose risk of CVD is high enough to recommend statin treatment and could cut the number of cardiovascular events in this group by 11,000 over 10 years.

The algorithms behind the test, developed by Genomics, a UK biotech company that uses large-scale genetic information to develop innovative precision healthcare tools, will then be utilised to calculate polygenic risk scores (a method of estimating a person’s predisposition to a certain condition or trait based on genetic variants) for each participant.

The study will be led across ten GP practices in the North of England. Around 1,000 healthy volunteers aged 45–64 years will be included in the study, via GP invitation. Also being scrutinised is an integrated risk tool (IRT), which combines genetic risk with current assessment techniques.

Full results of the HEART study are expected to be published later this year.

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