Personal genomics

Personal genomics or consumer genetics is a branch of genomics concerned with a sequencing, analysis as alive as 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 setting likelihood of trait expression, ancestry inference in addition to disease risk.

Automated high-throughput sequencers shit increased the speed together with reduced the cause up of sequencing, making it possible to advertisement 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 approximately both the medical efficacy and the ethical dilemmas associated with widespread knowledge of individual genetic information.

Ethical issues

Genetic discrimination is discriminating on the basis of information obtained from an individual's genome. Genetic non-discrimination laws defecate been enacted in some US states and at the federal level, by the Genetic Information Nondiscrimination Act GINA. The GINA legislation prevents discrimination by health insurers and employers, but does non apply to life insurance or long-term care insurance. The passage of the Affordable Care Act in 2010 strengthened the GINA protections by prohibiting health insurance corporation from denying coverage because of patient's "pre-existing conditions" and removing insurance issuers ability to vary premium costs based onfactors such as genetic diseases. precondition the ethical concerns about pre-symptomatic genetic testing of minors, this is the likely that personal genomics will first be applied to adults who can manage consent to undergo such testing, although genome sequencing is already proving valuable for children if all symptoms are present.

There are also concerns regarding human genome research in development countries. The tools for conducting whole genome analyses are broadly found in high-income nations, necessitating partnerships between developed and coding countries in outline to analyse the patients afflicted withdiseases. The relevant tools for sharing access to the collected data are non equally accessible across low-income nations and without an established standards for this type of research, concerns over fairness to local researchers conduct unsettled.