Personal genomics

Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips (typically 0.02% of the genome), or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk. Automated high-throughput sequencers have increased the speed and reduced the cost of sequencing, making it possible to offer whole genome sequencing including interpretation to consumers since 2015 for less than $1,000. The emerging market of direct-to-consumer genome sequencing services has brought new questions about both the medical efficacy and the ethical dilemmas associated with widespread knowledge of individual genetic information. Personalized medicine is a medical method that targets treatment structures and medicinal decisions based on a patient's predicted response or risk of disease. The National Cancer Institute or NCI, an arm of the National Institutes of Health, lists a patient's genes, proteins, and environment as the primarily factors analyzed to prevent, diagnose, and treat disease through personalized medicine. There are various subcategories of the concept of personalized medicine such as predictive medicine, precision medicine and stratified medicine. Although these terms are used interchangeably to describe this practice, each carries individual nuances. Predictive medicine describes the field of medicine that utilizes information, often obtained through personal genomics techniques, to both predict the possibility of disease, and institute preventative measures for a particular individual. Precision medicine is a term very similar to personalized medicine in that it focuses on a patient's genes, environment, and lifestyle; however, it is utilized by National Research Council to avoid any confusion or misinterpretations associated with the broader term. Stratified medicine is a version of personalized medicine which focuses on dividing patients into subgroups based on specific responses to treatment, and identifying effective treatments for the particular group. Examples of the use of personalized medicine include oncogenomics and pharmacogenomics. Oncogenomics is a field of study focused on the characterization of cancer–related genes. With cancer, specific information about a tumor is used to help create a personalized diagnosis and treatment plan. Pharmacogenomics is the study of how a person's genome affects their response to drugs. This field is relatively new but growing fast due in part to an increase in funding for the NIH Pharmacogenomics Research Network. Since 2001, there has been an almost 550% increase in the number of research papers in PubMed related to the search terms pharmacogenomics and pharmacogenetics. This field allows researchers to better understand how genetic differences will influence the body's response to a drug and inform which medicine is most appropriate for the patient. These treatment plans will be able to prevent or at least minimize the adverse drug reactions which are a, 'significant cause of hospitalizations and deaths in the United States.' Overall, researchers believe pharmacogenomics will allow physicians to better tailor medicine to the needs of the individual patient. As of November 2016, the FDA has approved 204 drugs with pharmacogenetics information in its labeling. These labels may describe genotype-specific dosing instructions and risk for adverse events amongst other information. Disease risk may be calculated based on genetic markers and genome-wide association studies for common medical conditions, which are multifactorial and include environmental components in the assessment. Diseases which are individually rare (less than 200,000 people affected in the USA) are nevertheless collectively common (affecting roughly 8-10% of the US population). Over 2500 of these diseases (including a few more common ones) have predictive genetics of sufficiently high clinical impact that they are recommended as medical genetic tests available for single genes (and in whole genome sequencing) and growing at about 200 new genetic diseases per year. The cost of sequencing a human genome is dropping rapidly, due to the continual development of new, faster, cheaper DNA sequencing technologies such as 'next-generation DNA sequencing'. The National Human Genome Research Institute, an arm of the U.S. National Institutes of Health, has reported that the cost to sequence a whole human-sized genome has dropped from about $14 million in 2006 to below $1,500 by late 2015.