To ASRM Board of Directors,

Hello, my name is Katie Herrero and I am writing on behalf of thousands of women and men who have used genetic testing as part of their fertility journey.  You will see that many of them have taken the time to sign this petition in order to enact change with regard to best practice of care.  Our attention has been drawn to a particular practice, between both the REI community as well as the genetic companies, which we feel is in violation to the ethics of healthcare.  All core principles of healthcare ethics are felt to be in violation; this incudes autonomy, beneficence, non-maleficence, and justice.

The matter at hand is regarding the reporting system between the genetic companies, the REI’s, and the patients using genetic testing in order to help prioritize their embryos for transfer, more specifically, the reporting of mosaic embryos.  We, the patients using genetic testing, have learned that depending on which genetic testing company is used, as well as what the genetic companies’ contract is with a particular REI, any particular patient may not be receiving the full information regarding their embryos.  Many of us have learned, after it is too late and the embryos have been discarded, that some of our embryos were in fact mosaic when they were reported as aneuploid.  This includes the non-reporting of mosaic embryos when they were complex mosaics, when the mosaicism was on a particular chromosome (13, 18, 21, and the X chromosome), when the embryo had segmental issues, as well as just plain old not reporting mosaics.  

This is particularly problematic in the face of new research regarding mosaicism and the possibility of achieving a healthy live birth.  This new research is even cited in the following article created by the ASRM itself entitled, “Clinical Management of Mosaic Results From Preimplantation Genetic Testing for Aneuploidy (PGT-A) of Blastocysts: a Committee Opinion.”  The article was thorough and did a very good job discussing the possibility of mosaic embryos leading to live births, as well as the potential health concerns that arise, and the fact that both outcomes need more formal research and documentation.  The article then went on to discuss the need for counselling prior to transferring these embryos, as well as prenatal screening to be considered after transfer of a mosaic embryo.  However, one thing not strongly outlined in this committee opinion is the importance of informing patients of the full status of their embryos.  The stories frequently reported are of patients following up with the genetic companies to learn more, and finding out that the embryo they were told was aneuploid was in fact a mosaic and that the REI did not ask for mosaicism to be disclosed.  By not reporting mosaicism, the field of reproductive medicine is withholding knowledge of our own health outcomes, creating a dangerous slope whereby the medical community is making decisions on our behalf without acknowledging our ability to participate in our own healthcare decisions.  This takes us to the violation of the first core principle, autonomy.  Our physicians are supposed to help provide us with a complete picture of our healthcare situation and allow us to be an active participant in our healthcare actions and choices.  Only once we have been given all of the facts regarding our embryos can our medical team provide us with their knowledge and input to help us make the most appropriate decisions regarding our medical care.  The reporting of a mosaic embryo as aneuploid has also led to many of our embryos being discarded.  For many of us, we would never have consented to a mosaic embryo being discarded, but again, this option has been taken away from many of us due to the decisions of our physicians.  

The principles of beneficence, as well as non-maleficence, can be discussed together.  As stated above, there is currently new research, as well as current research which is ongoing, regarding the possibility of mosaic embryos achieving a healthy live birth.  Without providing patients with the full information regarding our embryos, we are not able to decide if a certain embryo would be a possible option for transfer.  As an aside, if a certain physician is not willing to transfer a mosaic, we should still be provided with this information and then we should be allowed to find a physician who may be willing to transfer, if we so choose. For those of us who are in a position where we find ourselves with very few embryos, it is actually harmful to not disclose a mosaic embryo as this might be the only chance a particular person/people may have at growing/creating their family.

The last core principle that is found to be in violation is justice.  What I have learned from being part of this community is that not all patients receive the same information regarding mosaicism.  The same genetic company may have a different contract with different REI’s.  It may be disclosed to one person that their embryo is, in fact, mosaic, whereas another person may be told that their mosaic embryo is  aneuploid.

We are urging you, the members of the Board of the ASRM, to help change this discrepancy in reporting of mosaic embryos.  Please help create a standard of care that would encourage the genetic companies, as well as the REI’s, to disclose the full and accurate genetic make-up of our embryos to help facilitate the best medical decision to be made for those of us having to find ourselves using reproductive medicine.  Please help advance the field to use ethical, current best evidence-based practice.

Sincerely,

Katie Herrero