Use of Personalized Genomic Information

摘要: Advances in deoxyribonucleic acid (DNA) sequencing technologies have driven down the cost of obtaining individualised genomic information, however, interested parties must consider the potential benefits and risks to the individual in applying this data to healthcare. Previously, the cost of genetic testing was such that it was used sparingly to query a small number of genes and only in cases in which there was a high pretest probability of a diagnostic result. It is now possible to receive whole‐genome data for similar costs. While technically feasible, our collective ability to interpret variation observed in the entire genome has not progressed as quickly as the technology. Currently, only a small fraction of observed variation in the human genome is interpretable with certainty. There exists a risk of over‐interpretation of variants of uncertain significance; therefore, individuals with interest in the personalised use of this …