Proposed regulatory framework for direct-to-consumer genetic testing: diagnostics vs genetic screening

Even for cystic fibrosis, where genetic variants have been clinically validated, genetic testing is only one of the clinical diagnostic tools used, along with sweat chloride test and nasal potential difference, to establish clinical diagnosis. [...]genome sequencing should be mainly considered a screening/discovery tool. According to section 812.2(c) (3 ), DTC genetic test providers can be exempt from regulations applied to diagnostic devices by following three critical steps: (a) noninvasive nature of testing, (b) not used as sole or primary disease diagnostic tool, and (b) traditional methods used to confirm the diagnosis.