“Companies that offer analyses of future health risks based on basic genetic tests should be more transparent about the limitations of their predictions” Craig Venter.
In the recent New Scientist, Venter and four colleagues have proposed guidelines for the industry after assessing the results of scans of their own personal genomes as provided by the Californian firms 23andMe and Navigenics.. They found the companies recorded the genetic markers consistently at least 99.7 per cent of the time, but diverged on their assessment of the associated health risks. That’s similar to New Scientist’s comparison earlier this year of the results of scans from 23andMe and a third company, , Decode Genetics of Reykjavik, Iceland. In this case the genetic markers were consistently recorded 99.996 per cent of the time.
“One of the oldest names in computing is joining the race to sequence the genome for $1,000. On Tuesday, I.B.M. plans to give technical details of its effort to reach and surpass that goal, ultimately bringing the cost to as low as $100, making a personal genome cheaper than a ticket to a Broadway play. The project places IBM. squarely in the middle of an international race to drive down the cost of gene sequencing to help move toward an era of personalized medicine. The hope is that tailored genomic medicine would offer significant improvements in diagnosis and treatment.”
via biotech weblog
Preimplantation genetic diagnosis (PGD) has allowed couples to ensure the health of their child. But a screening technique known as karyomapping is going to improve prenatal diagnosis by replacing traditional PGD techniques. Karyomapping will allow doctors to detect both chromosomal abnormalities and single gene defects with a single test, making it a near-universal embryo screening. The technique should go into regular use by the end of the year.
The researchers based in the USA and the UK have been able to prove that the technique, known as genome-wide karyomapping, is capable of not only detecting diseases caused by a specific gene mutation, in this case cystic fibrosis, but that it was also capable of detecting aneuploidy (an abnormal number of any of the 23 pairs of chromosome) at the same time. This is the first time they have been able to demonstrate that the test can work in cells taken from embryos that have already been diagnosed with the cystic fibrosis gene mutation using conventional preimplantation genetic diagnosis (PGD).