Genomic Data: the next big thing
The beginning of the 21st century marked a historical moment for the genomics research as the Human Genome Project; more commonly known as “HGP”, concluded its 15-year long, 3-billion-dollar journey in April 2003. The HGP deciphered the mysteries of the human body, its miraculous functions and the impact of genetic factors on numerous diseases.
Comprehensive knowledge of individual genetic-makeup enabled the identification of risk factors for many diseases and helped the healthcare professionals to practice a precise as well as a personalised approach in medicine. The development of large scale genomic-based research such as ENCODE, HAPMAP, and nationwide genome projects created novel tools and techniques, which ultimately resulted in the modern era of commercially available genetic testing, more commonly known as direct to consumer (DTC) genetic testing.
Contrary to the traditional genetic testing which is carried out at a healthcare facility by healthcare professionals, with the focus on diagnosing and treating a patient’s genetic disease; DTC genetic testing is aimed mainly to create awareness of genetic diseases and provide personalised predictions to individuals on their health.
The general public can benefit from learning about their genomic data through DTC genetic testing in various ways. To name a few; an individual can reveal their family heritage by “ancestry testing”, and through the “carrier screening”, couples can obtain predictions determining the health of their unborn children. By “new-born screening”, genetic disorders of infants can be detected so the treatments can be begun very early in life.
With the help of extensive genomic studies, the scientific community is working tirelessly to extract genomic data and discover changes in human chromosomes, genes and proteins in order to discover every genetic disorder known to man. Who knows, in future, all new-borns might have access to their complete genomic data report along with their birth certificate; allowing them to have a complete understanding of who they really are.
