Whole-genome analyses are poised to transform pathology and other aspects of medicine, Mark Boguski told attendees at the American College of Medical Genetics meeting this weekend, but require improved resources for interpreting genetic variants.
At the American College of Medical Genetics meeting this week, Illumina UK researcher Mark Ross described how researchers with the Illumina Clinical Services Laboratory are starting to interpret information from individual genome sequences.
At the American College of Medical Genetics meeting, University of Washington researcher Jay Shendure outlined the progress that his team has made using exome sequencing to study both Mendelian and complex conditions.
It remains to be seen whether a market for PCR-based fragile X population screening will soon develop, since mandating newborn testing may be highly dependent on the development of a difference-making therapeutic; and carrier screening will likely continue to rely on a case-by-case cost-benefit analysis.
Some in the clinical genetics community believe the rise of DTC testing offers a prime opportunity to raise awareness of genetics among the general population, despite skepticism about using the tests for clinical decision-making.