@GeneSmith, thanks for putting together such an interesting read! Echoing @Ben Podgursky's comments (I’m a Genetic Counselor Orchid), we’re very proud of our monogenic screening that really goes above and beyond carrier screening that’s typically offered to IVF patients. We’re frequently asked “how often do you find something” on this screening. Given that Orchid is the first PGT lab to offer general screening for clinically significant monogenic conditions, there isn’t data available for direct comparison. Instead our detection rate estimate is based on whole genome sequencing studies in health populations and the diagnostic yield of WGS in affected individuals – the latter of which tends to have large variation across studies. To... (read more)
@GeneSmith, thanks for putting together such an interesting read! Echoing @Ben Podgursky's comments (I’m a Genetic Counselor Orchid), we’re very proud of our monogenic screening that really goes above and beyond carrier screening that’s typically offered to IVF patients. We’re frequently asked “how often do you find something” on this screening. Given that Orchid is the first PGT lab to offer general screening for clinically significant monogenic conditions, there isn’t data available for direct comparison. Instead our detection rate estimate is based on whole genome sequencing studies in health populations and the diagnostic yield of WGS in affected individuals – the latter of which tends to have large variation across studies. To... (read more)