A technical viewpoint
Need for moving beyond risk scores in genetic screenings
How SugarStrings.ai is unlocking the full potential of one's genetic blueprint.
In today’s world of personalized healthcare, understanding our genetic makeup is becoming increasingly important. With the rise of genomic technologies, there’s been an influx of products offering health insights based on genetic profiles. Among these, preemptive genetic screening products have gained traction, particularly those offering risk scores for common complex disorders like heart attacks and cancers. But before you dive in, let’s unravel what these risk scores mean and explore superior alternatives like Health String.
Disease risk scores, their utility and limitations
A disease risk score is a tool used to gauge an individual’s likelihood of developing a specific disease based on various factors such as age, gender, lifestyle choices, family history, and genetic predispositions. These scores are formulated by analyzing data collected from individuals within a specific population and identifying patterns and associations between risk factors and disease outcomes. They may also include a polygenic risk score, which considers the combined effects of multiple genes, with each contributing in small ways to disease susceptibility.
Although disease risk scores can be valuable for population-level screening, they have limitations.
While they can identify individuals at higher risk within a population using surrogate markers, they don’t pinpoint specific genetic factors responsible for the disease in an individual.
It is crucial to understand that risk scores may not be universally applicable across all populations due to differences in genetic makeup and environmental influences. Moreover, they may not offer insights into preventive and clinical interventions. This made us start on a research journey to find a better and superior alternative.
HEALTH STRING: An Absolute Genetic Health Insight model.
HEALTH STRING discovers genetic mutations in genes that have a definitive implication in diseases. It involves decoding every letter of the targeted stretches in the DNA rather than screening for a predetermined set of markers used in relative risk score assessment. The population-agnostic machine learning algorithms powering Health String are trained to detect and report these mutations with over 99% accuracy and reproducibility.
It provides absolute genetic health insights for the individual rather than providing a population-relative risk score and can be utilised for aiding crucial preemptive measures and early clinical interventions.
Understanding our genetic blueprint opens doors to proactive health management and disease prevention. While risk scores offer insights into general susceptibility, Health String provides a deeper understanding of genetic predispositions, empowering individuals to make informed decisions about their health. As we unravel the secrets encoded in your DNA, we pave the way for a healthier future.
Dr. Rajasekhara Reddy
Human Geneticist | Co-founder SugarStrings.ai
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