, 11 tweets, 11 min read Read on Twitter
@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:


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.
Missing some Tweet in this thread?
You can try to force a refresh.

Like this thread? Get email updates or save it to PDF!

Subscribe to Yaniv (((Erlich)))
Profile picture

Get real-time email alerts when new unrolls are available from this author!

This content may be removed anytime!

Twitter may remove this content at anytime, convert it as a PDF, save and print for later use!

Try unrolling a thread yourself!

how to unroll video

1) Follow Thread Reader App on Twitter so you can easily mention us!

2) Go to a Twitter thread (series of Tweets by the same owner) and mention us with a keyword "unroll" @threadreaderapp unroll

You can practice here first or read more on our help page!

Follow Us on Twitter!

Did Thread Reader help you today?

Support us! We are indie developers!

This site is made by just three indie developers on a laptop doing marketing, support and development! Read more about the story.

Become a Premium Member ($3.00/month or $30.00/year) and get exclusive features!

Become Premium

Too expensive? Make a small donation by buying us coffee ($5) or help with server cost ($10)

Donate via Paypal Become our Patreon

Thank you for your support!