Personal Genomics: Meaning, Applications and Issues

Genome refers to the genetic material of an organism and it comprises of DNA (or RNA in RNA viruses). It offers a blueprint for an organism’s structure and function and has all information necessary for life. Study of genome is called genomics. One of the basic disciplines in genomics is Genome sequencing which refers to know the order of four nucleotides or bases within DNA molecules. The four bases are Adenine (A), Guanine (G), Cytosine (C), and Thymine (T).

Genomics is different from genetics- because the latter primarily studies role of genes in inheritance. Genomics helps in understanding the entire genetic information of an organism.

Personal Genomics

Personal genomics is an area of genomics focusing specifically on the sequencing and analysis of one person’s genome, and then giving them their genomic information.  In this, an individual’s genotype is compared with published literature / available data to establish the likelihood of the individual’s disease risk and trait expression. Personal genomics helps in uncovering a huge amount of information related to all aspects of an individual’s physiology – like their susceptibility to certain diseases and the way they respond to specific drugs.

Various Applications of Personal Genomics


Pharmacogenomics is an area of personal genomics that helps to select the appropriate drug which is likely to have a maximum effect while reducing any potential side effects. It will help in identifying the genetic predisposition for diseases, familial traits and adverse reactions to common drugs etc.

Prediction of genetic disease

Analysis of an individual’s genome will help in revealing the likelihood of a genetic disease in an individual later on in life. It analyzes the carrier status for various genetic diseases. Many diseases like sickle cell anaemia, thalassemia and cystic fibrosis are genetically inherited. Also, it identifies the possibility of inheriting common diseases like diabetes, coronary heart diseases, etc. It is also helpful in understanding the underlying genetic factors responsible for diseases like asthma, pulmonary fibrosis, etc. For example, it can tell a person if he/she carries a cancer gene or not and if so, it helps in knowing the possibility of having cancer during their lifetime. This will help the individual to take preventive measures.

Genetic counselling

Genetic counselling is offered to avoid or minimize the effects caused by the disorders.

Issues concerning personal genomics

There are a number of ethical, legal and social issues concerned with personal genomics. There prevails an ethical dilemma pertaining to the widespread knowledge of individual genetic information. As the genomics research includes collection of human genetic material including DNA from a huge number of people, issues such as informed consent procedure, data sharing, protection of genetic information have arisen.

Challenges to the growth of personal genomics

  • Screening services available only to a limited number of genetic disorders and it is still highly costly, though costs have come down heavily in last few years. Still, DNA sequencing is an expensive affair.
  • Inability to sequence the full genome.
  • Low levels of awareness and delays in approvals.

Personal Genome Project

The Personal Genome Project was announced in 2005 to analyse the genomes of over 1 lakh people across the globe. The Personal Genome project provides open access and publishes all of its data online for the advancement of science. This project is creating a treasure trove of information and can speed up scientific research in this field. The data can be accessed by the researchers, research institutes and drug companies to understand how the genetic and environmental factors interact with each other to cause disease.