News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.
During an NIH meeting, researchers from four newborn sequencing research projects discussed results of their studies and future implications.
Scientists from the UK and China discussed two new NIPTs that include single-gene disorders and a study to estimate disease recurrence risk in families.
The testing programs are financially supported by the drugmakers, and will allow Invitae to provide free testing and genetic counseling for rare inherited retinal disease and primary immunodeficiencies.
Invitae will perform genetic testing using a 58-gene panel and Horizon will provide financial support for the program aimed at improving diagnosis of the rare condition.
The direct-to-consumer firm offers whole-genome sequencing for under $1,000, along with specific reports on pharmacogenomics, health traits, and certain diseases.
