At the ACMG meeting, a Johns Hopkins researcher described how she used the social media platform to contact and survey more than 150 patients with two rare diseases.
Speakers at HudsonAlpha's Genomic Medicine Conference said while sequencing results sometimes result in a diagnosis and change in care, they often have no consequence.
HudsonAlpha's Greg Barsh described results from a Clinical Sequencing Exploratory Research project during the institute's ongoing Genomic Medicine Conference.
As part of Invitae's network, patients can build datasets tracking their experiences with rare conditions and make the deidentified data available for research.
Victorian Clinical Genetics Services is one of two partners in Acute Care Genomics, which is testing DNA from critically ill infants and kids across Australia.
