Genetic Testing for Proactive Healthcare Plan Best Suited for You.

5 minute(s) read
Genetic Testing for Proactive Healthcare Plan Best Suited for You.


Considered as an emerging practice, Personalized Medicine uses an individual’s genetic profile to guide healthcare decisions in regard to the prevention, diagnosis and treatment of particular diseases in which genetic alterations appear to play a significant role. Not only to predict and prevent the associated risks of developing a wide variety of diseases, but genetic testing results can also lead to a precise and effective healthcare plan.  In addition, genetic test promises to assist you to tailor lifestyle-related aspects including nutrition as well as optimal exercise to enhance quality of life while promoting long-term health and well-being. 

Diseases and genetic mechanisms

A number of hereditary diseases are described in which disturbances in the DNA processes induced by mutations are found. The genetic composition inducing certain diseases involves: 

  1. Genotype: Genotype is the genetic arrangement that makes up the traits that people inherited from their parents. In fact, a genotype is an individual’s collection of genes and genetic information. Genetic mutations are changes in the genetic sequence, leading to diversity among individuals. These changes occur at many different levels. Nevertheless, some genetic mutations can lead to genetic disorders or illnesses while some do not result in any health impacts. Factors affecting the probability of a gene or trait being expressed include: 
    • Penetrance:  Penetrance refers to the proportion of people with a particular genetic mutation (known as a genetic variant) who exhibit signs and symptoms of a genetic disorder. In other words, penetrance represents the likelihood that a clinical condition will occur when a particular genotype is present.
    • Epigenetics: Epigenetics is the study of changes in gene function that are heritable and are not attributed to alterations of the DNA sequence. Epigenetics involves genetic control by other factors including environment and behavior, causing a wide range of susceptibility degree to develop certain diseases throughout a person’s lifetime.   
    • Environmental factors: Environmental factors that play a vital role in developing diseases are, for examples, diet consumption, sleep habits, physical activity and stress.  
  2. Phenotype: Phenotype is the observable characteristics of humans that are produced by the interaction of the genotype and the environment. Some phenotypes can lead to certain traits of diseases which are classified into: 
    • Mild alterations 
    • Moderate alterations  
    • Severe alterations 

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Genetic testing and prediction of future health

Predictive genetic testing is the use of a genetic test in an asymptomatic person to predict future risk of certain hereditary diseases. Genetic mutations are changes in the genetic sequence occurring in the genetic material. Nevertheless, some genetic mutations may result in protein malformation or malfunction, causing certain hereditary diseases or conditions. Currently, genomic technologies and medical advancements have constantly emerged, allowing genetic studies to identify exact changes in DNA sequence and their consequences associated with hereditary risks. As a result, genetic testing enables precise intervention and disease prevention to be performed in a timely manner.  

Among a variety of genetic tests and interpretations, a polygenic risk score (or a genetic risk score) represents the total number of genetic variants that each individual has in order to assess their heritable risks of developing a particular disease. A polygenic risk score is used to estimate a person’s risk compared to others with a different genetic constitution. It is calculated by the sum of an individual’s risk alleles according to genotype profile, weighted by risk allele effect sizes derived from genome-wide associated study data. Even though polygenic risk scores have been shown to be predictive of disease risk, high score does not necessarily assure that a person will definitely get a disease in the future. In fact, it indicates the likelihood of developing that particular disease in comparison to the general population, ensuring proactive healthcare planning and precise intervention combined with appropriate lifestyle modification for each individual to minimize the risks of developing hereditary diseases.   

Genetic testing and interpretations

Genetic testing involves the following steps: 

  1. Once a sample is obtained, genetic alterations presenting in different locations on DNA strands are detected using genomic technology. Results derived from the analysis are further proceeded by a specialized programming algorithm to calculate the polygenic risk scores. 
  2. The polygenic risk scores of developing certain diseases are then compared to the general populations, which are classified at high risk (special medical attention is highly recommended), moderate risk (special medical attention is recommended) and normal risk (risk is equivalent to the general population).  
  3. Healthcare plan and additional interventions can be made according to the polygenic risk scores of each individual.
  4. Regardless of the results (high, moderate and normal risks), it should be noted that: 
  • Besides genetic abnormality, other contributing factors to develop certain disease are primarily hinging upon individual’s lifestyle and behavior as well as environment and overall health condition. High polygenic risk scores are not a definitely assured result of disease development in the future and vice versa. 
  • If case genetic alterations are found, health awareness towards warning signs and symptoms of hereditary diseases should be raised, enabling proactive and effective healthcare intervention. Despite that most of genetic mutations are permanent changes present at birth, lifestyle and behavioral modifications can significantly reduce the risks of certain diseases, resulting in improved overall health and well-being. 
  • For people present with high and moderate polygenic risk scores along with other abnormalities, it is highly advised to seek immediate medical assistance provided by an expert specialist for additional interventions and effective treatments, if needed. 

Benefits of genetic testing

  • Guiding proactive healthcare plans 
  • Selecting precise screening tests and interventions
  • Preventing or minimizing the risks of certain diseases
  • Leading to early detection in which timely treatment can be given before the condition progresses with severity 
  • Improving quality of life and well-being  

Health tips toward healthy living

  • Consume healthy foods with proper amount 
  • Maintain healthy weight 
  • Exercise regularly 
  • Quit smoking 
  • Reduce or refrain from alcohols 
  • Avoid other risk factors 
  • Have an annual health check-up

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