Genomic medicine

The use of genomic information and technologies to determine disease risk and predisposition, diagnosis and prognosis, and the selection and prioritisation of therapeutic options.

New technologies are providing:

• Information for the identification, diagnosis and treatment of single gene disorders
• Identification of genetic susceptibility loci for common diseases
• Identification of genetic subtypes of common diseases
• Genomic tools for personalising management of common disease
• Information for the stratified use of medicines and the development of pharmacogenomics

Examples of genomic medicine in clinical practice are highlighted on our genomic medicine page.

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Teaching Genetics

• Teaching Home
• Medical Practitioners
• Nursing Professions
• Pharmacogenetics
• Dietitians
• Glossary

  • Alleles

  • Amniocentesis

  • Anticipation

  • Autosomal dominant

  • Autosomal recessive

  • Autosome

  • Carrier

  • Carrier screening

  • Carrier testing

  • Chorionic Villus Sampling

  • Chromosome

  • Clinical genetics

  • Clinical Utility

  • Clinical Validity

  • Clone

  • Coding sequence

  • Codon

  • Companion diagnostic

  • Congenital

  • Consanguineous

  • Copy Number Variation (CNV)

  • Cytogenetics

  • De novo mutation

  • Degree of relationship

  • Direct mutation detection

  • DNA

  • DNA linkage studies

  • DNA testing

  • Dysmorphic

  • Empiric risk

  • Epigenetic

  • Expressivity

  • Family Tree

  • First-degree relative

  • FISH: fluorescence in situ hybridisation

  • Gamete

  • Gene

  • Gene deletion(s)

  • Gene inversion

  • Gene signature

  • Gene tracking

  • Genetic

  • Genetic counselling

  • Genetic heterogeneity

  • Genetic Predisposition

  • Genetic Susceptibility

  • Genetics

  • Genome

  • Genome-wide Association Study (GWAS)

  • Genomic medicine

  • Genotype

  • Gonadal/germline mosaicism

  • GWAS

  • Heterozygote (Heterozygous): Carrier

  • Homologous

  • Homozygote (Homozygous)

  • Incidence

  • Inheritance

  • Karyotype

  • Liability

  • Linkage analysis

  • Locus (loci)

  • Malformation

  • Marker

  • Mendelian inheritance

  • Mitochondria

  • Mitochondrial condition

  • Mitochondrial inheritance

  • Monosomy (Monosomic)

  • Mosaicism (mosaic)

  • Multifactorial inheritance

  • Mutation

  • New mutation

  • Offspring risk

  • Patterns of inheritance

  • Pedigree diagram

  • Penetrance

  • Personalised medicine

  • Pharmacogenetics

  • Pharmacogenomics

  • Phenotype

  • Polymerase chain reaction (PCR)

  • Polymorphism

  • Premutation

  • Prenatal diagnosis

  • Presymptomatic testing

  • Prevalence

  • Recurrence risk

  • Second-degree relative

  • Sex chromosome

  • Sib/sibling

  • Single gene disorder

  • Somatic cell

  • Sporadic

  • Stratified medicine

  • Syndrome

  • Teratogen

  • Third-degree relative

  • Trait

  • Transcription

  • Translation

  • Translocation

  • Trinucleotide (triplet) repeat

  • Trisomy (Trisomic)

  • X-Chromosome inactivation

  • X-linked dominant

  • X-linked recessive