Genetic scoring: Calculated risks of acquiring genetic diseases

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  Quantumrun Foresight
• February 17, 2022

Many individuals have illnesses that are caused by changes in either one or many of their genes, a condition that is frequently influenced by hereditary and environmental factors. Researchers are studying these changes to gain a deeper understanding of the role played by genetics in certain diseases. 

One way for people to learn about their risk of developing a disease is through a “polygenic risk score,” which studies the total number of genetic changes related to the disease. 

Genetic scoring context

Researchers divide genetic diseases into two classes: (1) single-gene diseases and (2) complex or polygenic diseases. Many inherited diseases affect thousands of people, and they can often be traced to variants of a single gene, while polygenic diseases are a result of many genomic variants, paired with environmental factors, such as diet, sleep, and stress levels. 

To calculate the polygenic risk score (PRS), researchers identify genomic variants present in people with complex diseases and compare them with the genomes of individuals without those diseases. A large body of available genomic data allows researchers to calculate which variants are found more frequently in people with a given disease. The data is encoded in a computer, then statistical methods can be used to estimate an individual’s risk for a certain disease. 

Disruptive Impact 

A PRS can be used to predict how an individual’s genetics compares with those who have a genetic disease. However, it doesn’t provide a baseline or timeframe for disease progression; it only shows correlations and not causations. Additionally, the majority of genomic studies to date have only examined individuals with European ancestry, so there is inadequate data about genomic variants from other populations to effectively calculate their PRS. 

Researchers have found that not all diseases, such as obesity, have low genetic risks. Nonetheless, the use of PRS in societies can help determine a given person’s susceptibility to diseases, like breast cancers, for early intervention and to improve health outcomes. The availability of PRS can personalize disease risk information, and improve overall public health as it can encourage individuals to make lifestyle changes to prevent or delay the onset of diseases. 

Applications of genetic scoring

Applications of genetic scoring may include: 

• Matching drugs in clinical trials to individuals who are at a higher risk of acquiring a disease they are trying to treat.
• Collecting genetic insights into pandemic control measures by gaining a better picture of the genetic factors that make certain people more susceptible to certain viruses. 
• Measuring an infant’s intellectual and physical potential to inform parents about possible growth development interventions or opportunities to maximize the child’s future development.
• Measuring the genetic makeup of livestock and pets to assess their predisposition to certain animal diseases. 

Questions to comment on

• Does genetics weigh more than environmental factors when it comes to acquiring diseases? 
• Is it ethical for insurance companies to use PRS to evaluate the premiums paid out by individuals?