Table 1.
Genetic medicine (locus-specific) | Genomic medicine (genomic-scale assays) | |
---|---|---|
Molecular diagnosis | Hypothesis-driven, based on clinical suspicion (one or a few genes tested) |
Diagnosis by genomic techniques: aCGH, SNP arrays, exome or whole-genome sequencing, karyotype |
Risk assessment | Carrier testing of relatives of affected individuals | “Personal genomic panels” (DTC or physician- referred) |
Pharmacology | Pharmacogenetics | Pharmacogenomics |
Treatment | Considers the patient’s genotype at a single locus and pharmacogenetic data; genetic tumor typing |
Incorporates modifier loci and pharmacogenomic data into management decisions; genomic tumor typing |
Disease gene/susceptibility locus identification |
Hypothesis-driven gene sequencing, positional cloning; Mendelian inheritance patterns preferred |
aCGH, exome or whole-genome sequencing, GWAS, linkage mapping; complex inheritance patterns acceptable; discovery of modifier loci |
Genocentric? | Usually | Sometimes |
aCGH array comparative genomic hybridization, SNP single-nucleotide polymorphism, DTC direct-to-consumer, genocentric interpretation of variation focuses on genes and the genetic code