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Personalized medicine – the promised land: are we there yet?

Authors


Dr Chumei Li, 1200 Main Street West, MIMC 3N11E, Hamilton, ON L8S 4J9, Canada
Tel.: +1 905 521 2100x73246;
fax: +1 905 521 2651;
e-mail: lichum@mcmaster.ca

Abstract

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.

Table 1.  A simplified comparison of clinical genetics and the anticipated genomic medicine
 Clinical geneticsGenomic medicine
EmphasisRare or very rare diseasesCommon complex diseases
Genes involvedMonogenic or oligogenicOften unknown
Genomic changesChromosome rearrangements, aneuploidy, copy number variants, deletions, duplicationsMultiple variants/polymorphisms
PenetranceHighLow
Disease detectionDiagnostic, carrier testing and pre-symptomatic testingPredictive risk assessment
Pre-symptomatic testingHigh predictive valueLow predictive value (not yet proven)
TreatmentVariable approachesPersonalized approach based on genome info
Clinical geneticistMedical doctors, well educated and trained in this specialtyMinimal education and training
Laboratory geneticistUsually PhDs, well educated and trained overseeing clinical service laboratoriesUsually PhD researchers without direct clinical involvement

Ancillary