Dear GIVF: Vol. 1

Who doesn’t love Dear Abby, where every day people ask questions in search of direct and sensible answers that may just apply to their own situation. It was Reality TV before Reality TV was a thing.
If you’re one of those people, then welcome to the debut of Dear GIVF, where clients or clinicians inquire about genetic-related questions that can apply to a larger group.
Do you have a genetic-related question you feel may be applicable to other clients? If so, email [email protected] Subject Line: Dear GIVF.
Disclaimer: This is not the email to use for personal or case-specific questions. Please send those to [email protected].
Dear GIVF,
I’m in the process of choosing a donor and have been reviewing their expanded genetic test results. I noticed that not all donors are tested for the same conditions. I’m planning on being tested myself and would like to have an idea on what test needs to be done, considering that different donors are screened for different diseases. I don’t want to pursue testing only to find out that I was not screened for a disease that a donor is a carrier of. Any information/tips you can provide would be appreciated.
Hi Client,
Excellent question and way to be forward thinking.
I used to suggest that a client have the same expanded carrier screen panel at the same genetic testing laboratory as their chosen donor. Unfortunately, this is often no longer possible. Expanded carrier screening panels have evolved over time. Testing laboratories have not only added certain genes and removed other genes, but some laboratories have closed altogether. That said, here is my suggestion.
Find a few donors you like based on criteria other than their genetic test results. This could include their interests, education, or occupation. Next, make a list of the genes for which each donor is a carrier.
For example:
Donor | Carrier Genes |
7325 | ABCA4, TPO, SMN1 |
6541 | HBA1/HBA2, CYP21A2, NPHS2, GJB2 |
7713 | HLCS |
When talking with your provider, have them confirm that the genes for which the donors are carriers are on your expanded carrier screening panel. If your provider is not comfortable comparing panels, schedule an appointment with a genetic counselor to discuss this matter.
The conditions included on our donors’ expanded carrier screen follow autosomal recessive inheritance. This means that if the egg and sperm source both have a disease-causing variant in the same gene, the chance to have a child with the gene-associated condition is 25%.
Of note, it is advisable for egg sources to pursue panels that also include conditions that follow X-linked inheritance. These are conditions in which only the carrier status of the egg source impacts the risk of having an affected child.