Personal genomics is the branch of genomics concerned with the sequencing and analysis of the genome of an individual. Different techniques are employed for the genotyping stage, either single-nucleotide polymorphism (SNP) analysis chips (typically 0.02% of the genome), or partial/full genome sequencing. Once the genotypes are known, the individual's sequenced DNA can be compared with the published literature to determine the probability of trait expression and disease risk. Automated sequencers and next generation sequencing technologies have increased the speed and reduced the cost of sequencing, making it possible to offer genetic testing to people like me and you. (39) |  |
Commercial Companies which offer Personalized Genomic Tests:
Full Genome Sequencing providers:
· Knome.com/ : full genomic sequencing and 2 years research updates; personal genetic counseling. Only $68,500.
· EveryGenome.com/ : $48,000 full genome sequencing by Illumina. Requires physician request.
· PersonalGenomes.org/ : Plans to offer free genomic sequencing to 100,000 volunteers (only U.S citizens for now). Currently working on the first 100
Recreational and Clinical Genomic diagnostics:
· cpmc.coriell.org/: Coriell Personal Medicine Collaborative - Free AffymetrixGeneChip SNP sequencing, but only for "potentially medically actionable" conditions. Currently this list includes 10 conditions, and will grow as the Informed Cohort Oversight Board approves more conditions.
· · 23andMe.com/: Offers ancestry and health genomic analysis with an Illumina 550,000 SNP chip for between $399-$499. Results are not clinically useful.
 | · DeCODEme.com/: $195 - $985 for up to 48 genetic conditions using a 100,000 SNP chip. In Bankruptcy proceedings. · Counsyl.com/: offers a chip-based screen for genetic disease markers, including some for cystic fibrosis. Trying to sell both direct to consumers and clinically and aiming for insurance coverage. DTC costs $349. Not sure how they ensure the results are clinically useful. · Navigenics.com/: offers chip-based testing for 28 different conditions along with personal genetic counseling for $999. Not sure how they ensure the results are clinically useful. Want to be clinically used. Figure (62) A sample of analyzed DNA results of an individual. Risks for certain diseases are shown. |
Public Health IssuesA meeting of the Molecular and Clinical Genetics Panel was held on March 8 & 9, 2011 at the Department of Health and Human Services The Panel met to discuss and make recommendations on scientific issues concerning direct to consumer (DTC) genetic tests that make medical claims: FDA panel advises caution on personal genetic testing Doctors should supervise the ordering and interpreting of tests that are directly marketed to patients, the panelists agree. (40) |  Figure (40) |
