Genetic carrier screening

There are many illnesses that are passed on through genetic markers.  Sickle cell anemia, hemophilia, and cystic fibrosis are just a few such illnesses that are transmitted genetically and are lethal.  Understandably, then, fertility doctors do not want to risk conceiving a child that would be subject to these brutal illnesses.  People can be carriers of genetic markers of such illnesses without actually suffering the effects of the illness.  Therefore, egg donors are often screened for these genetic markers to reduce the risk of any children being born with such conditions.

Questions to ask:

What is involved in the genetic carrier screening process?

Genetic screenings are conducted by testing a sample of the donor’s blood.

What are clinics/brokers looking for with the genetic screening?

The genetic carrier screening reveals carrier status for specific genetic diseases.

The American Society for Reproductive Medicine (ASRM) also suggests that genetic screening of egg donors should be based on ethnicity as some genetic conditions are common in certain ethnic groups.

Caucasian women should be tested for the presence of a cystic fibrosis (CF) mutation. Women of Asian, African, and Mediterranean descent should be screened for the sickle cell trait and thalasemias by undergoing a hemoglobin electrophoresis test. If the woman donating her eggs is of Ashkenazi Jewish origin, CF mutation analysis and screenings for Tay-Sachs disease, Canavan disease, and Gaucher disease are recommended. Women of French Canadian descent should be screened for CF as well as Tay-Sachs disease.

Consideration: Reliability of genetic screenings

Some traits, such as Tay Sachs and Cystic Fibrosis, can be reliably detected through genetic screening. However, more complex conditions such as heart disease cannot be reliably detected through genetic screening.

Conversation: Prenatal testing and disability rights

Some disability rights advocates believe that screening out disabilities sends a message to members of the disability community that they are not wanted or that their births were a “mistake.” Others argue that both genetic contributors (of egg and sperm) should be screened for the sake of the intended child’s and parent(s) well-being.

Will I have access to the results of my genetic screening?

Once again, as in the case of the medical screenings, it is important to ask whether and/or how you will be getting your test results. You should also seek access to a genetic counselor (either through the program or independently) who can support when you receive your test results, if you have any questions or concerns.

Who will see my results? Will I be rejected for medical or life insurance based on the results of my genetic tests?

As with other medical screening results, genetic screening results have the possibility of affecting your ability to receive insurance coverage.  Any information that is documented may be recoverable by insurance agencies, and may affect your ability to receive insurance coverage or the type of coverage you may receive.  It is crucial to inquire how these results may affect your current or future medical/life insurance and who has access to your screening report.

What should I do with the information in my genetic screening results?

For your health and safety, you should maintain your own medical records.  Should you have any medical complications in the future, past tests may be useful in diagnosis and treatment.