Personalised genomics


Personal genomics that area of genomics concerned with the sequencing and analysis of the genome of an individual as 97 per cent genome of population of world is same difference lies here in three per cent hence in order to find mutations either single nucleotide polymorphism (SNPs) or Copy Number Variation (CNVs). Interest for personal genomics began in 1990 as with the Human Genome Project, an effort towards the sequencing of all the genes in a human being, which was completed in 2003 at a cost of $3 billion. Now researchers are using this as a reference genome and exploring novel variants in whole genome from point mutations to structural variations. Which can be then use for studying associated characters and diseases.


A revolutionary change has been made in personal genomics with the development of next generation sequencing technology (NGS) that will ultimately progress towards the reality of personalized medicine. A large number of variants over one million can be studied using microarray genotype technology that result in formation of companies that offer individual DNA profiling and interpretation.


Personalized genome provokes the concept of personalized medicine. Researchers say that if two persons have same disease one cure other not than his genetic makeup is responsible for that hence comes the idea of personalized medicine to distinguish from the sense in which medicine has always been inherently “personal” to each patient. Using new methods of molecular and genetic analysis to better manage a patients disease or predisposition to disease is likely to change the way drugs are discovered and medicines are prescribed. Rational drugs save millions of lives a year. Personalized medicine uses information and data from a patients genotype. This technique involves studying the level of gene expression to stratify disease, selecting a medication, providing therapy or initiate a preventive measure that is suitable to particular patient at the time of administration. The use of new molecular analysis methods and bioinformatics to better manage a patients disease or predisposition to disease is likely to change the way drugs are discovered and medicines are prescribed.


A movie named GATTACA (name derived from four nucleotide bases G,A,T,C) and released in 1997, is an engrossing sci-fi thriller about an all-too-human being who dares defy a system obsessed with genetic perfection, draws an attention of a person towards the incredible world of personalized genomics and development of personalized medicine.


Importance of individualized human genome projects


Research on several genome projects running by different countries collaboratively as well as individually adding to the progress of research in this area. Some of the huge projects are;


Human Genome Project (2003): First genome project was completed in 2003. At least 18 countries have participated in it. The main objectives were to identify ~25,000 genes in human DNA and to de-code the 3 billion base pairs that make up this DNA. Moreover, the data collected, stored in databases and freely available publically on web.


Personal Genome Project (2005): This is a long term, large cohort study which aims to sequence and publicize the complete genomes and medical records of 100,000 US volunteers and add the information to the field of personalized genomics and personalized medicine spearheaded by George Church of Harvards Center for Computational Genetics.


1000 Genomes (2008): This project was started in early 2008 to know the human genetic variation by sequencing genomes of 1000 volunteers from different ethnic groups around the globe, completed in 2010 and published in nature in 2012, supported by the Welcome Trust Sanger Institute England, Beijing Genomics Institute China and NHGRI National Institute of Health.


Pan-Asian Population Genomics Initiative (PAPGI): The aim of this platform is to analyze Asian genome sequences and to associate them with local adaptation, human migration, and genomic diversity associated with phenotypes and diseases in Pan-Asia area, hence helping scientific community for further research in human evolution and medical applications.


Ancient Genome Project: With the collaboration of Danish scientists, researchers worked on 4,750-2,500 C samples to test what extent ancient genomics can contribute knowledge about now extinct cultures, while little is known about their phenotypic traits, genetic origin and biological relationship to present-day populations.


On individual basis many renowned persons sequenced their genome including Ozzy Osbourne, Larry King, Glen Close, Steven Hawking, Paul Allen Microsoft, cofounder of Microsoft, Craig Venter, American Biologist, James Watson, co-discoverer of DNA, Desmond Tutu, Archbishop Sitting Bull Lakota Chief, while in UK the Ice Man from Greenland, Esther Dyson, Swedish notable techie entrepreneur Steven Quake Engineer who had designed a cheaper test, Hermann Hauser, an entrepreneur, Marjolein Kriek Dutch, a clinical geneticist, and George Church Harvard, a molecular geneticist.


Dr Atta ur Rehmans Pakistan has also become the sixth country in the world to map the sequence of one of its nationals after the US, China, UK, Japan and India. Dr Rahmans genome shows that Pakistanis are more similar to Europeans than Chinese and Africans, said Assistant Professor Dr Muhammad Kamran Azim who had headed the team of the Pak Genome Project. It also shows 200,000 specific sites unique to the Pakistani human and 80,000 sites common with the Indian human.


Other country based genomic projects include Korean Personal Genome Project (KPGP), Sri-Lankan Personal Genome, Arabian Genome Project: Indian Human Genome Project: Irish Human Genome, Australian Human Genome and African Genome Project.


Another genome from northwest province of Pakistan has also been sequenced by a group of scientists at Centre of Excellence in Molecular Biology (CEMB) Pakistan under the supervision of Prof. Dr. Tayyab Hussnain (Director CEMB) and Dr. Zia Ur Rehman (Head of Bioinformatics Unit CEMB) in collaboration with the Personal Genomics Institute South Korea.


Personal genomics companies:


With the increasing awareness about personalize genomics and its likely benefits, there are various companies going to engage in this business. According to the survey conducted by the National Human Genome Research Institute (NIH) with the progressing years the cost of sequencing has declined.


The companies attract their clients by providing them services like full genome sequencing or recreational and clinical genomic diagnostics and making the cost from as high as $68,500 to as low as $199 vary company to company.


These companies offer disease association and ancestry based studies of individual as well.


These companies may include Knome, EveryGenome, PersonalGenomes, Coriell Personal Medicine Collaborative, 23andMe, DeCODEme, Counsyl, Navigenics, PathwayGenomics, DNADirect, GenomicHealth/OncotypeDX, Omicia and India also has developed its company named as Mapmygenome. In this area Pakistani researchers keep on working to make their name.


Ethical implications:


With the development of personalized genomics, no new ethical issues were raised, but highlighted many existing genetics related challenges.


One of the main and important issues is the handling of an individuals genetic data. What should be the private privacy rules for this?


What if a person has been diagnosed for some psychological, health, or societal risks which he may feel like he doesnt want this information? He could feel worried about overestimated disease risks and could suffer from anxiety.


The genetic information obtained from an individual is as similar as other family members or may be of a whole population. Should that information be shared with others?


Unfortunately, even after a decade, no such rules and regulation have clearly been laid out internationally. Public should be educated on the dimensions of genomic sequence including professionals like physicians and science writers, who must be provided with the understanding essential to instruct their patients and the general people.


There are certain professional issues as well like if a person goes for the personalized genomic testing and if it becomes mandatory to submit the test report and if he or she comes to know that in future he or she will be at risk of vulnerable spreadable diseases like AIDS and Hepatitis, so what will be its professional careers fate is questionable.


There are also some chances of raise in personal issues. If a person knows about his future prone to diseases, it causes various psychological manifestations like stress conditions, inferiority complex and various mental disorders.

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