The human variome project and global globin challenge

With precision medicine,disease treatment and prevention will consider individual genetic variability,environment,and lifestyle of every patient. the emergence of precision or personalised medicine in parallel with the advancement of high-throughput genetic analysis allow researchers to scan the genome for genetic variations linked to diseases,generating unprecedented influx of raw genetic variation data worldwide. the human variome project was initiated to address the issues of genetic variation data collection,ethical,legal,and socio-cultural challenges. the systematic curation of genomic information from all over the world will provide the much-needed link between individual genomic information and personalised medicine to improve individual health care. global globin 2020 challenge is an initiative under human variome project that aims to utilise the development in human genomics; focusing on hemoglobinopathies,encompassing a systematic genetic variation data curation,and sharing in low-middle income countries with its focus on thalassaemia and sickle cell disease. with genomic knowledge informing our understanding of genetic diseases at molecular level,the health system in these countries will greatly be impacted. © 2017,pakistan pediatric journal. all rights reserved.