Thread by @erlichya

@KylaDunn5 @MyHeritage @23andMe @HankGreelyLSJU I am happy to continue a respectful conversation. Long twitter thread ahead.

@KylaDunn5 @MyHeritage @23andMe @HankGreelyLSJU The first thing to know is that our test is not indented for high risk individuals for BRCA mutations. PWN collects family history from our participants and the physicians will NOT prescribe the test if the person is with high likelihood a BRCA carrier (e.g. history of breast

@KylaDunn5 @MyHeritage @23andMe @HankGreelyLSJU cancer of the participant of a family member). These individuals should get their BRCA test elsewhere exactly because we are not a sequencing based test. I think that this approach is much safer than other DTC

@KylaDunn5 @MyHeritage @23andMe @HankGreelyLSJU companies and balances between accessibility and false negative. On top of that, the test clearly indicates to the user the caveats of the test, including being in comprehensive.

@KylaDunn5 @MyHeritage @23andMe @HankGreelyLSJU (meant incomprehensive :-). Now, we have on our array virtually every BRCA mutation that is considered pathogenic by ClinVar and is assayable by an array technology.

@KylaDunn5 @MyHeritage @23andMe @HankGreelyLSJU However, we do not simply ship BRCA mutations without strong analytical validations, which includes both positive, negative, and manual inspection a series of parameters in over 200K people that we already assayed. So

@KylaDunn5 @MyHeritage @23andMe @HankGreelyLSJU Currently, we are offering the following list:
rs386833395
rs80357906
rs28897672
rs41293455
rs80357868
rs80358061
rs80357115
rs80357508

rs80359550
rs80359564
rs11571658
rs80359530
rs80359520

But I do expect it to grow in the future.

@KylaDunn5 @MyHeritage @23andMe @HankGreelyLSJU Now, if an individual shows a positive results for any of these mutations, we plan to perform Sanger sequencing to validate the mutation. This should mitigate the risk of false positives. On top of that, such an individual will receive a phone call from a genetic

@KylaDunn5 @MyHeritage @23andMe @HankGreelyLSJU counselor that will discuss the results with this person and contextualize them. Again, I think this is a much better approach than other alternatives.

@KylaDunn5 @MyHeritage @23andMe @HankGreelyLSJU We did a user comprehension study with 100 individuals using the peer-reviewed PGen framework (2013). Our results show over 90% literacy (actually 99% for most questions).

@KylaDunn5 @MyHeritage @23andMe @HankGreelyLSJU So as you can see we take a strong data-driven approach to validate our tests, communicate caveats, test comprehension, etc. I hope this long thread addressed some of the concerns.