An international research programme, ‘the Human Genome Project’ revealed the structure, organization, and function of the complete set of human genes in 2003 and impact of Human Genome on functioning of the society. The set of genes, according to the project, are probably about 20,500 in number. First planned in 1990, the researchers of the project decoded the human genome by determining the order, or sequence, of all the bases in the human genome’s DNA, creating genetic maps that show gene locations for major sections of human chromosomes and making linkage maps that can help track inherited traits over generations. This human genomics project led to the emergence of a new era in medicine and led to important technological advancements used to sequence DNA.
The Project’s Contribution to Medicine
The first draft of the sequence of the human genome’s base pairs was published in February 2001 and the full sequence was completed and published in April 2003. According to a former director of the National Human Genome Research Institute, US the genome has multiple uses and it is at once a detailed blueprint for building every human cell, and a textbook of medicine that has insights to help healthcare providers treat, prevent and cure disease. It also helps characterize the complete genomes of other organisms used in medical research, and explain a gene in another organism. The project has benefited biomedical technology and research in a big way, although the data from the HGP must be made widely available to doctors, scientists for the application of these research results.
Impact of Human Genome on Society
The genomics business could develop into a $24 billion industry by the year 2022. Previously businesses focussed on human genomics catered largely to research institutes, pharmaceuticals, and universities, and in recent years have begun to offer services to the general public. Molecular biology techniques are now equipped to decipher complete genomes for a price as low as $100, and companies big and small are now tapping into this new market. They offer services and products such as gene therapy, direct to consumer genetic testing, DIY biology kits, and equipment for at-home genetic engineering experiments, genetic data for research purposes, etc. Gene therapy can help pharma edit the defective genes in patients and assist in their treatment, and genetic testing can help individuals to send in saliva samples to get information on genetic risks, what diet or exercise regimen will serve them better, what abilities they can be best at and so on. Genetic information of clients are being sold by companies to aid research on genetic data. Some companies are attracting clients by listing the benefits of personalized or tailored treatment, while others target people who show interest in understanding their ancestral roots or personalities and health needs using genetic data. Human genomics is also finding its way into many other technologies like blockchain, cloud computing, AI and machine learning, etc.
Researchers at The Institute for Nutritional Sciences in Shanghai, China, are using stem cells to find new ways to cure life-threatening illnesses. For instance, stem cells are being used to replicate diseases like cardiovascular diseases, obesity, and diabetes to understand them and cure the conditions. Stem cells are used instead of animal testing at the institute, as some genetic mutations found in humans aren’t found in animals. Researchers are using stem cells to study various diseases and testing drugs on them to eventually find a cure for them. The research institute is also using gene therapy to lower cholesterol levels in mice, by using CRISPR, a genome-editing tool. This was inspired by a study by scientists that found that a group of people with a certain genetic mutation were able to maintain low levels of cholesterol and had low risks of heart attack despite being on high-fat, high-sugar diets. Introducing this mutation using the CRISPR material in a mouse with a human liver (the mouse’s liver was repopulated by human liver cells) led to a 40 percent decrease in cholesterol levels. This can lead to the treatment of many diseases in the future.
Ethical Concerns: Impact of Human Genome
Despite the many opportunities it presents, human genomics comes with many ethical and legal concerns. Some of them are, a lack of policy guidelines and monitoring of direct to consumer genetic testing companies, a dearth of policies on ownership and confidentiality of genetic data, and absence of ethical guidance on DIY bio experiments on both humans and animals. These ethical issues must be adequately addressed to prevent any harm
