Navigating Donor Medical Updates: Insights from the Director of Genetic Counseling at Fairfax EggBank

Consider this scenario: It is a regular day at Fairfax EggBank when we receive a medical update on one of our egg donors who reached out to inform us that she was diagnosed with a cardiomyopathy (disease that affects the heart). She has no prior personal or family history of cardiac diseases and the diagnosis came as a shock to her. Two days prior, a recipient for a different egg donor reached out to inform us that her long-awaited donor-conceived child has a birth defect. Neither the egg donor nor the sperm source has any personal or family histories of birth defects.

What are the implications of these medical updates on donors and their recipients and how should they be handled?

On this year’s Genetic Counselor Awareness Day, I would like to share with you an essential function of my position as the Director of Genetic Counseling at Fairfax EggBank. It involves the investigation and dissemination of medical updates that are received on donors and/or donor conceived pregnancies/persons. As a professional who is trained in both genetics and psychosocial counseling, I combine my skills in risk assessment with communication to deliver essential information to donors, recipients, fertility clinics, and donor-conceived persons (DCP), when applicable, that may guide their reproductive decisions and health management.

The family and medical history obtained on donors during the screening process is a snapshot in time. This information can change over time, either due to new health information obtained on the donor or through health information on donor-conceived persons that has implications to biological relatives. A donor’s medical and family history is updated prior to each cycle. In addition, both donors and recipients sign consent forms that encourage sharing of medical updates as they arise.

One of the responsibilities of a gamete bank genetic counselor is to evaluate these cases by obtaining additional information that would help evaluate the recurrence risks to biological relatives. This information may include details surrounding the diagnosis, genetic test results, and updated family history. If the medical update is determined to have an increased reproductive risk for close biological relatives, dissemination to all stakeholders is typically made.

Since medical updates may be shocking and complicated to those who receive it, genetic counselors play an essential role in communicating this information in an effective and helpful way. Genetic counselors take into account:

• The family planning circumstances of each client. The number of living children, cryopreserved embryos, as well as prior losses and fertility journey that each recipient/donor has makes a difference in how the information is received and processed. Genetic counselors answer questions, clarify risks, and help their clients evaluate the information in order to make informed decisions.
• The recurrence risk information. Not all medical updates carry the same weight in terms of recurrence risks. For example, a newly diagnosed dominant condition affecting a donor would have a 50% chance for recurrence in each biological child. An example is cardiomyopathy that has been associated with a single DNA change in a gene associated with early-onset heart disease. A multifactorial condition, on the other hand, where both genetic susceptibility factors as well as environmental factors play a role in its expression may only have empiric risk data available. Examples include autism and certain birth defects like spina bifida.
• The psychosocial aspects. A pregnant recipient, for example, may react with a higher degree of concern than a recipient who has healthy living children and no remaining embryos to transfer. Similarly, a recipient who is on their 4th IVF cycle with no successful transfers may have a different reaction than a recipient who has a large cohort of euploid (chromosomally balanced) embryos and a successful transfer. The emotional, financial, and physical burdens of IVF can have a huge toll on the wellbeing of families and how they manage risk information.
• The complexity of information shared. Some medical updates can have straight forward information with clear reproductive testing options while others are more vague due to lack of recurrence risk information and causative factors. Genetic counselors are skilled at breaking down complex genetic information in a way that is tailored to the understanding and needs of each client.

The process of managing medical updates is not without challenges. For example, medical records confirming a diagnosis may not always be available. In addition, recipients may change their contact information and not update the gamete bank, or they simply do not confirm receipt of the update. As such, gamete banks may set internal protocols to ensure consistency in the investigation and dissemination process, such as the types and frequency of communication methods used and number of attempts to reach a client.

Last, genetic counselors are allies to all stakeholders in third party reproduction. They understand the needs of clinicians at IVF clinics, the needs of recipients and donors, as well as the needs of DCP who may ultimately be affected by these medical updates. They serve as educators, communicators, advocates and supporters to their clients. To learn more about genetic counselors, you may visit the National Society of Genetic Counselors. To find a genetic counselor in your area, you may use this tool.

Learn more about the author

Rawan Awwad, MS,CGC

Rawan Awwad, MS, CGC is a board certified and multi-state licensed reproductive genetic counselor with expertise in preimplantation genetic testing, carrier screening, and gamete donation. She currently serves as the Director of Genetic Counseling at Fairfax EggBank where she oversees the review and assessment of donor genetic testing, manages the investigation and dissemination of medical updates received on donors and donor conceived persons, and serves as an in-house genetic expert for clients seeking suitability matching or clarification on donor histories/results. Prior to joining Fairfax EggBank, Rawan served as a Genetic Counselor at a PGT laboratory where she managed the review and counseling on PGT cases and served as a clinic liaison to referring clinics.