On April 6, 2003, NBC journalist David Bloom, 39 died after spending long hours in a tank with limited mobility while covering Iraq invasion. Later it was discovered that it was a pulmonary embolism — a blood clot that moved from the leg to the lung. It is caused by a condition called deep-vein thrombosis. He wasn’t aware of the fact that he was genetically predisposed to blood-clots. If he had known about this condition, his life would have been saved with precautionary measures. Knowing your genetic condition is very important, which is highlighted from the above incidence.
DNA in cells governs many of your physical characteristics like height, colour of eyes, texture and colour of hair, and so on. Genes are inherited from the biological parents and that’s how characteristics of your parents and grandparents affect the children. Along with characteristics, other factors like risk to certain physical conditions/ diseases are also caused by genetic predisposition. E.g. Obesity is caused by genetic predisposition in 70% cases. That is why it becomes very important to know and explore your genes.
Genome exploration means revealing the information on one’s genome using the landmarks or Single Nucleotide Polymorphism which would help us reach a particular risk or predisposition. Genomes are the set of genes or genetic material present in a cell.
Genetics is important because of the below mentioned factors-
- Blue print of our individual existence.
- Plays crucial role in treatment of various diseases.
- Genetic diseases which are undiagnosed or diagnosed late.
- Affects quality of life.
It helps clinicians as they can utilize genetic discoveries to provide efficient drugs and predictive information to create personalized lifestyle management for you. It also develops therapeutics and health management tools to help prevent disease and engage individuals to actively participate in their healthcare decisions.
Genome-wide association study (GWAS) and Indian population
When adapting genome tests for India; diseases, disorders, and other conditions specific for Indian region need to be considered. Beta Thalassemia is the most common genetic disorder. Specific mutations for Beta Thalassemia, which are well known to be present in Indian population, are analyzed.
Next, all the allele frequencies are adapted according to the actual frequencies in Indian population. This was done using the genotyping data, processed till date (more than 1 000 people), for every single mutation. Valid allele frequencies are important as they affect the final risk calculation for development of the disease.
Personal Genetic Analysis is recommended for you if:
You have a family history of certain diseases.
You would like to adjust your lifestyle according to your genes.
You want to know your risks and hidden talents.
You realize that prevention is better than cure.
In the PGA report, your risk of getting a particular condition/disease is given in comparison with the risk in general population. Risk does not mean presence of disease or certainty of developing the disease, because both genetic as well as environmental factors are responsible for the onset of a disease. E.g. Genes influence Iron Metabolism in about 30% of cases while diet and environment influence iron metabolism in 70% cases.
The report also reveals your inherent metabolic response to various food components like carbohydrates, fats, protein and various vitamins.
“Our genomes truly are a fundamental part of us. They are what make us human, including the distinctively human ability to learn and create culture. They account for at least half of what makes us different from our neighbors. And though we can change both inherited and acquired traits, changing the inherited ones is usually harder.”– Steven Pinker, Cognitive Scientist.