Personal genomics is a branch of genomics where individual genomes are genotyped and analyzed using bioinformatics tools. It is also related to traditional population genetics. The genotyping stage can have many different experimental approaches including single nucleotide polymorphism (SNP) chips (typically 0.02% of the genome), or partial or full genome sequencing. Once the genotypes are known, there are many bioinformatics analysis tools that can compare individual genomes and find disease association of the genes and loci. The most important aspect of personal genomics is that it leads to the personal medicine where patients can take genotype specific drugs for medical treatments.
Personal genomics is not a single individual's vision or invention. Many researchers for decades anticipated this biological branch will eventually arrive with minimum cost of genotyping. Due to the advent of cheap and fast sequencers, full genome personal genomics is becoming a reality. However, there have been active early proponents of personal genomics projects such as George Church in Harvard Medical School.
Genomics used to mean academic research on consensus genomes which have been assembled from many different individuals of a particular species. The personal genomics changes this into customized bioinformatic discovery on individuals.
Use of personal genomics in predictive medicine
Predictive medicine is the use of the information produced by personal genomics techniques when deciding what medical treatments are appropriate for a particular individual.
An example of the use of predictive medicine is in selecting which drug to prescribe to a patient. The drug should be chosen to maximize the probability of obtaining the desired result in the patient and minimizing the probability that the patient will experience side effects.
The probabilities of obtaining the desired result and of experiencing side effects are both dependent on information that can be obtained by analysis of the patient’s genome.
Genomics is itself a rapidly developing field. As new techniques are developed in genomics it is likely that some of them will be applied in personal genomics and predictive medicine.
Personal Genome Project
» personalgenomes.org
23andMe
Sells mail order kits for SNP genotyping. The $399 kit contains everything a patient needs to take their own saliva sample. The patient then mails the sample to 23andMe who carry out microarray analysis on it. This provides genotype information for about 600,000 SNPs. This information is used to estimate the genetic risk of the patient for over 80 diseases as well as ancestry analyses.
» 23andme.com
Illumina
Focused on commercializing full genome sequencing but are not involved in the predictive medicine (interpretative) side.
» everygenome.com
deCODE Genetics
Charges $985 to carry out genotyping of approximately 1 million SNPs and provides risk estimates for 29 diseases.
» decodeme.com
Navigenics
began offering SNP-based genomic risk assessments as of April 2008. Navigenics is medically focused and emphasizes a clinician's and genetic counselor's role in interpreting results. Currently over 20 disease are offered for $2500. Navigenics uses Affymetrix Genome-Wide Human SNP Array 6.0 , which genotypes 900,000 SNPs.
» navigenics.com
Knome
Provides full genome (98% genome) sequencing services for $99,500.
» knome.com
Complete Genomics
» completegenomicsinc.com
Sequenom Center for Molecular Medicine
» scmmlab.com
