@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 give an example, Vissers et al in 2016 reported a diagnostic yield of 60% for intellectual disability whereas Stefanski et al. in 2021 reported 28%.
Of our estimated 3.7%-3.9% detection rate of monogenic findings in embryos, we anticipate ~3% to be inherited while ~0.7-0.9% are likely to be de novo. While these may seem like small numbers, for families who have already experienced a de novo mutation, no number feels small enough and they welcome any opportunity to reduce those risks!
@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 give an example, Vissers et al in 2016 reported a diagnostic yield of 60% for intellectual disability whereas Stefanski et al. in 2021 reported 28%.
Of our estimated 3.7%-3.9% detection rate of monogenic findings in embryos, we anticipate ~3% to be inherited while ~0.7-0.9% are likely to be de novo. While these may seem like small numbers, for families who have already experienced a de novo mutation, no number feels small enough and they welcome any opportunity to reduce those risks!