PRECISION GENOMICS
Dr. Swarkar Sharma
Deoxyribonucleic Acid (DNA) constitutes genome, contains biological instructions to make each species unique and along with the instructions it contains, is inherited from one generation to next generation. This biological information is encoded in fragments of DNA called Genes. To keep things simple in understanding, there are approximately 20,000-25,000 Genes in humans. These individually or in combinations/associations with other regions of genome, as well as interactions with environment, take care of composition and all the functions of the body. Each Gene has primarily two copies and Mother and Father contribute equally, one copy each, that they have inherited from their parents. In this way, transmission of characters from parents to children is controlled (known as heredity). During course of inheritance as well as growth of a body, due to various factors, some changes may arise in DNA and are called mutation or variations. Some of these variations remain restricted to the individual itself (somatic) or are inherited to the next generation (Germline). These variations can be neutral or may have negative or positive impact as they may affect function of a Gene. In addition, as genes have potential to interact with environmental conditions, these variations may effect function of a gene and subsequently expression of the characteristics. When a positive effect, it can be beneficial by helping in adaptation to environment and better survival. However, if negative impact, may result in a disease condition. With this background, to summarize, DNA and its composition may play critical role in defining physical features (called phenotypes), disease predisposition (susceptibility) or resulting in genetic disorder condition, based on how strong the effect of variation is (called penetrance). Thus, this spectrum, like rare monogenic (single gene caused) diseases to complex multifactorial and polygenic (multiple genes and environment) characteristics/disorders, clearly depends on penetrance of these variations.
With the exponential development in genomic approaches and advent of Next Generation Sequencing (NGS) and high end computational data analyses (big data in genomics), that has already facilitated screening of whole genome of an Individual in couple of hours itself, new domain in healthcare, “Precision Medicine” is emerging. With continuous improvement in the methodologies and, development and establishment of baseline datasets, in developed countries it has already secured its place in healthcare in various domains. In India, it is slowly making its way, primarily in Tier 1 cities. Precision Genomics offers healthcare providers important genomic information that can help personalize ones treatment, determine ones risk for certain genetic conditions, and even identify how well one may respond to certain medications and dosages. This helps reduce costs while providing a better experience overall. In addition, it has been observed that incorporation of genomics in healthcare, especially to address rare genetic conditions, has facilitated beyond limits in characterization, identification and therapeutic intervention.
It is important to mention that scientific evidences suggest that Indian populations have unique genepool that it has acquired over period of time due to different population specific natural selection scenarios and migrations etc. Over the period of time, due to our social practices, it may have resulted in unique population specific genetic signatures, many of which may be restricted to independent population groups (endogroups: based on religion, caste, language, ethnicity etc.). With upcoming research in the domain, these are being explored and many a such signatures are coming into light. Yet, a lot has to be done keeping in mind huge population diversity of the land and extensive geographical and social distribution of various endogroups countrywide.
The population structure of Jammu and Kashmir is also quite unique. J&K is mainly a hilly terrain, so majority of the population groups exist in small geographic pockets throughout the region and until recently these population groups have remained isolated which might have resulted in diverse but conserved gene pool over a period of time, as observed by various studies carried out by our research group. Subsequently, the health hazards and diseases in the region that affect the populations in the region, in addition to the common ones, hugely are different rare disorders, many remain uncharacterized, may be restricted to particular families or populations, yet to be understood and gain attention. In many of such disorders, that are not lethal in early age, individuals remain normal at birth and have disease symptoms later in age that keep on intensifying with advancement of age, sometimes resulting in loss of life. To highlight, geographic isolation and most of the population groups practicing and performing marriages preferentially within particular subgroups, result in high inbreeding. Adding to it, majority of population of Jammu and Kashmir practice consanguinity (i.e. marriage with in the family). It is a known fact that high consanguinity cause high incidence of rare genetic disorders. In light of such population structure in J&K, a high incidence of rare genetic disorders is expected in the region, to the extent, these rare disorders start to appear like an epidemic in isolated areas. Carrying this information to general public is an important component in the maintenance and control of such disorders. It is need of the day that not only population residing in urban areas but remote areas too are educated about genetic disorders as well as practice of high consanguinity especially, in situations when incidence of disorders is reported in families.
With this background, Human Genetics Research Group at School of Biotechnology at Shri Mata Vaishno Devi University, Katra, with support from collaborators, has initiated a project called “Project JK-DNA”. The purpose of the project is to provide an online open access resource with the goal of aggregating and harmonising both Human Exome and Genome sequencing data from population of J&K through its genome sequencing projects (Next Generation Sequencing), published resources or public datasets, and making summary data available for the use of wider scientific community especially medical researchers in J&K and India. HGRG SMVDU has plans to pool NGS datasets, generated with collaborators from Institute of Human Genetics and School of Biotechnology, University of Jammu for better and higher genomic resolution. The portal will also feature various scientific outcomes in the domain, from the region, in simple and layman’s terms for the knowledge and awareness of common masses. The project is powered through a J&K startup Biodroid Innovations Pvt ltd and the product series Key2genes.
For more details visit WWW.JKDNA.IN : The online portal to help understand the genetic makeup of Human Population of Jammu and Kashmir
About HGRG:
Human Genetics Research Group (HGRG) is established at School of Biotechnology, Shri Mata Vaishno Devi University Katra, Jammu and Kashmir, India. HGRG team, comprised of researchers with enhanced skill sets, is working in the area Human Evolutionary Genetics, Rare Undiagnosed Genetic Disorders and Complex Genetic disorders in Human population of Jammu and Kashmir. The group has received research grants from various external Funding agencies: DST SERB GoI; UGC GoI, CSIR GoI; National Geographic Society, USA. Group has high impact scientific research publications and patents to their credit.
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