MAUDE Adverse Event Report: MYGENOME (30X WHOLE GENOME SEQUENCING) ; GENETIC VARIANT DETECTION AND HEALTH RISK ASSESSMENT SYSEM

Device Problem Labelling, Instructions for Use or Training Problem (1318)

Patient Problem No Known Impact Or Consequence To Patient (2692)

Event Type  malfunction  

Event Description

I received dequenching as part of a deal through the personal genome project (with data uploaded on (b)(6) 2016).So, this is specifically for the pgp get-evidence report, which may not be what other customer receive.I think the link will be removed from maude.However, in terms of providing info to the fda, there is add'l info available here: (b)(6).Similarly, i think the link will be removed, but you can view my pgp profile here: (b)(6).If the fda would like more info, then i would be glad to provide it.However, this is my concern: i am a cystic fibrosis carrier (as defined by clinvar, the ctfr2 database, etc), but this was not mentioned on the first page of the get-evidence report (which only listed variants for mbl2-g54d, col4a1-q1334h, spg7-a510v, and mtrr-i49m).I think one factor may be how this deletion is listed, since i could find the variant as "cftr-l88shift" after learning to look that alternative name under the category of "insufficiently evaluated variants".I would also like to thank a contributor to a biostars discussion for pointing out how i could find this variant annotation (more specifically cited in the blog post).Also, to be fair, i don't think this product was specifically marketed to be able to tell you your cystic fibrosis status (just for general research purposes).However, i think most people would consider this a false negative.Veritas genetics.Fda safety report id# (b)(4).

• Brand Name: MYGENOME (30X WHOLE GENOME SEQUENCING)
• Type of Device: GENETIC VARIANT DETECTION AND HEALTH RISK ASSESSMENT SYSEM
• MDR Report Key: 9865436
• MDR Text Key: 185005181
• Report Number: MW5093888
• Device Sequence Number: 1
• Product Code: PTA
• Combination Product (y/n): N
• Reporter Country Code: US
• Number of Events Reported: 1
• Summary Report (Y/N): N
• Report Source: Voluntary
• Reporter Occupation: Patient
• Type of Report: Initial
• Report Date: 03/18/2020

1 Device was Involved in the Event

1 Patient was Involved in the Event

• Date FDA Received: 03/20/2020
• Is this an Adverse Event Report?: No
• Is this a Product Problem Report?: Yes
• Device Operator: No Information
• Was Device Available for Evaluation?: Yes
• Type of Device Usage: N
• Patient Sequence Number: 1
• Patient Weight: 79