Li C. Personalized medicine – the promised land: are we there yet?
The delivery of personalized genomic medicine (refer Table 1 for a comparison of genomic vs genetic medicine and box 1 for glossary) hinges on obtaining personal genomic data through genome-wide association studies (GWAS) or whole-genome sequencing. After the completion of the human genome project (see box 2 for human genome projects and its derivative projects) in 2003, there appeared to be a period of euphoric optimism that as soon as the cost of sequencing the whole human genome could be brought down to an affordable range, the promise of personalized medicine would become a reality. However, inasmuch as the miraculous technological advancements are making whole-genome data acquisition an inexpensive reality, we are also starting to appreciate that making sense of the enormous amount of genomic data is a far bigger hurdle. Issues, both scientific and ethico-legal, will have to be addressed as genomic data are been pushed for clinical and direct-to-consumer utilization.
|Clinical genetics||Genomic medicine|
|Emphasis||Rare or very rare diseases||Common complex diseases|
|Genes involved||Monogenic or oligogenic||Often unknown|
|Genomic changes||Chromosome rearrangements, aneuploidy, copy number variants, deletions, duplications||Multiple variants/polymorphisms|
|Disease detection||Diagnostic, carrier testing and pre-symptomatic testing||Predictive risk assessment|
|Pre-symptomatic testing||High predictive value||Low predictive value (not yet proven)|
|Treatment||Variable approaches||Personalized approach based on genome info|
|Clinical geneticist||Medical doctors, well educated and trained in this specialty||Minimal education and training|
|Laboratory geneticist||Usually PhDs, well educated and trained overseeing clinical service laboratories||Usually PhD researchers without direct clinical involvement|