Screening & diagnostics

Innovation in screening & diagnostics

2.4 Genomic screening

Our understanding of genetics is leading to highly personalized screening strategies. This is discussed in greater detail in the Innovation in Prevention Chapter. In summary, genomic screening has the following three areas of utility currently:

Genetic Testing: For individuals with a strong family history of cancer, genetic tests (e.g., for BRCA mutations) can identify an elevated risk. This information allows for a personalized screening plan with more frequent or earlier screenings.

Polygenic Risk Scores: Researchers are developing PRSs that combine thousands of genetic variants to provide a more comprehensive risk assessment for common cancers. This allows for a more tailored screening schedule that is specific to an individual’s genetic makeup.

Epigenetic Profiling: Health and wellness companies to offer personalized insights beyond traditional genetic testing by exploring how the exposome and lifestyles impact gene function. Muhdo is a platform that provides such a service – customers provide a saliva sample, which is analyzed to provide insights into their biological age, alongside a comprehensive assessment of various health markers, including an inflammation score, and even an estimated “age” for eyesight, memory, and hearing (Muhdohub, 2025). The platform then translates this complex data into actionable recommendations based on both genetic and lifestyle data for diet, exercise, and lifestyle changes, and even personalised dietary supplements, with the promise that a person can actively influence and potentially “reverse” their biological age.