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. Author manuscript; available in PMC: 2012 Jul 1.
Published in final edited form as: Hum Genet. 2011 May 19;130(1):103–121. doi: 10.1007/s00439-011-1001-1

Table 1.

The scope of genetic and genomic medicine

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