Research Results
When pursuing preimplantation genetic testing for monogenic conditions (PGT-M), you will need to provide a lot of information regarding your personal and family history as well as genetic test reports. This post reviews the reasons why genetic testing reports are important and what someone may do if their genetic testing was performed with a research lab or organization.
Genetic testing reports might belong to either you or your partner, depending on who underwent the genetic testing, as well as reports from other relevant relatives. The reason the lab requests the original copy of the genetic testing performed is because they are ensuring their ability to design a test specific to your family's DNA. As discussed in prior blog posts, PGT-M stands apart from other genetic tests that are readily available to anyone. PGT-M is exclusively tailored to your family's genetic data.
The reports are often needed at the beginning of the process during “case review or document review”. For some cases, the initial reports provided are sufficient to pass the document review stage, and you are scheduled for a genetic counseling appointment. After this appointment, the reports may reviewed by the entire lab team to ensure the information on the reports are sufficient and no other information is needed prior to starting the test design.
One of the first things the lab looks at is that there is an identified genetic cause for the inherited neurodegenerative condition. Otherwise, if there is not a specified genetic cause, the lab will not know what gene to design a PGT-M test for.
Sometimes, families have pursued research testing in which their reports may have been de-identified. In such cases, it becomes crucial for the lab to identify the owner of the report and establish some form of identifiers, which often takes the form of a unique number linked back to the respective family member. Each lab follows its own set of protocols pertaining to identifiers, with a common requirement being the use of two identifiers for adequate identification. The lab will specify what identifiers they need either at the “document review” phase or after the genetic counseling consultation.
Furthermore, the lab needs information about the research program's methodology, the specific gene, and the variant pinpointed for the individual. Research programs might use diverse technologies or naming conventions that are incompatible with those employed by the PGT-M lab. Consequently, in specific scenarios, the PGT-M lab might request the individual to undergo testing with a clinical laboratory possessing CLIA and CAP approval.
PGT-M costs a lot of money, time, effort, and resources. It is crucial that PGT-M is made available to families where there is a clear chance of passing on a variant. While it may feel like a lot of hoops to jump through to get the genetic test reports, it is imperative the PGT-M lab does not inadvertently design a test that is incorrect. Some labs require payment prior to designing a test or shortly after, so if an issue can be circumvented in the early stages of the process, it is ideal for all those involved.
In summary, if you and/or your family pursued genetic testing with a research lab, your report may be sufficient for the PGT-M lab’s purposes, but this will be dependent on the lab and what the research lab reports out. It is possible you and/or your family are asked to be retested at a clinical laboratory.
