Personal genomics
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.
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.
[6] 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."
[7] 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.
[14][15] This inspects 3000-fold more bases of the genome than SNP chip-based genotyping, identifying both novel and known sequence variants, some relevant to personal health or ancestry.
"[42] This has led to calls for policy-makers to establish consistent guidelines and best practices for the accessibility and usage of individual genomic data collected by researchers.
[44] Additional privacy concerns, related to, e.g., genetic discrimination, loss of anonymity, and psychological impacts, have been increasingly pointed out by the academic community[44] as well as government agencies.
[41] Additional issues arise from the trade-off between public benefit from research sharing and exposure to data escape and re-identification.
[45][46] Full genome sequencing holds large promise in the world of healthcare in the potential of precise and personalized medical treatments.
Among the most impactful and actionable uses of personal genome information is the avoidance of hundreds of severe single-gene genetic disorders which endanger about 5% of newborns (with costs up to 20 million dollars),[47] for example elimination of Tay Sachs Disease via Dor Yeshorim.
Czech medical geneticist Eva Machácková writes: "In some cases it is difficult to distinguish if the detected sequence variant is a causal mutation or a neutral (polymorphic) variation without any effect on phenotype.
The interpretation of rare sequence variants of unknown significance detected in disease-causing genes becomes an increasingly important problem.
"[49] In fact, researchers from the Exome Aggregation Consortium (ExAC) project estimated the average person to carry 54 genetic mutations that previously were assumed pathogenic, i.e. having 100% penetrance, but without any apparent negative health presentation.
In theory, this might antagonize an individual to make uneducated decisions such as unhealthy lifestyle choices and family planning modifications.
Negative results which may potentially be inaccurate, theoretically decrease the quality of life and mental health of the individual (such as increased depression and extensive anxiety).
A major use of personal genomics outside the realm of health is that of ancestry analysis (see Genetic Genealogy), including evolutionary origin information such as neanderthal content.
[56] The 1997 science fiction film GATTACA presents a near-future society where personal genomics is readily available to anyone, and explores its societal impact.
Perfect DNA[57] is a novel that uses Dr Manuel Corpas' own experiences and expertise as genome scientist to begin exploring some of these tremendously challenging issues.
[62] Personal genomics have also allowed investigators to identify previously unknown bodies using GEDmatch (the Buckskin Girl,[63] Lyle Stevik[64] and Joseph Newton Chandler III).
