Image of two female presenting individuals sitting at a dark brown table with a black office chair and a window with blinds behind them. One woman, has light skin, straight dark brown hair and is wearing a grey shirt, is in the far left of the image and is facing away from the camera. Her hand is on a red binder with diagrams on white pages, which is sitting on the table. The second woman, is on the right of the image and is facing the camera. She has medium-light skin, tight dark brown curls, is smiling and wearing a blue shirt and slight brown open cardigan and gold bracelet. She is pointing to a diagram in the binder and looking at the woman on the left.
This Labor Day, CNN aired their new special report: The Baby Business, which is great timing giving the other connotation of the word labor. This special focused on the growing fertility industry and the regulations, or lack thereof, for the use of donors and genetic testing within assisted reproductive technology (ART). Why does this matter to you? Because according to the CDC’s report, approximately 1 in 50 of all infants born in the US were conceived with the use of ART, with that number rising to 1 in 10 of all multiples born in the US (twins, triplets, etc.).
While abbreviations such as ART may sound unfamiliar to you, this term covers everything from using an egg or sperm donor, in vitro fertilization (IVF), gestational carriers or surrogates, egg freezing, embryo donation, and more common treatments such as intrauterine insemination (IUI, where sperm is introduced directly into the uterus). ART may become part of the family planning process for single parents, same-sex couples, individuals experiencing infertility, individuals who have a genetic condition or family history of one, and/or individuals who are trying to give their future selves better chance of successful conception (i.e. egg freezing).
Our medical and genetic technology and knowledge have expanded rapidly over the last couple of decades and have given individuals so many more options and opportunities than ever before. It can be hard for patients and providers alike to keep up with this rapidly changing technology and to assess the benefits and limitations of the various options available to them. We may have oversight when it comes to the safety of the medical procedures sometimes involved in ART, but that does not mean that the genetic testing and use of donors are equally as regulated.
Genetic tests do not require peer reviewed studies before coming to market and donor agencies work essentially on the honor system, with recommendations that are not enforced and internal guidelines being the main driving force within each company. The gift of life is a wondrous thing to make available for more people but to expect individuals to magically know how to navigate a convoluted medical field places an unfair burden on these families.
Let’s start with the example CNN provided, a sperm donor who did not disclose their personal history of schizophrenia and hospitalizations. Although schizophrenia can cluster in families with an approximate 2-10% chance that offspring of someone with the condition may also be affected, there is no one gene associated with schizophrenia, or any mental health condition for that matter. There is no genetic, preconception, or prenatal test that can accurately predict the chance of developing a mental health condition as they do not exist within a box. There are multiple genes and environmental factors that all play a role and a family history of one mental health condition often increases the risk for any mental health condition, not just the one reported.
When speaking with people considering using an egg or sperm donor, we often talk about the family history provided on the donor’s profile. This family history is completely self-reported by the donor, often through a checklist or online form, though some donor agencies also have a genetic counselor take a more detailed 3-generation family history. Just like when a medical provider talks to any individual – there is no way to prove or confirm the reported history. All medicine is based on the honor system when it comes to family history, however, when people are paying for the use of a donor in regard to the potential of their future child – this honor system can suddenly feel very uncertain. The reality is though, even if a donor discloses honestly and openly everything that they know, many individuals just simply do not know their family history in detail. Many families do not share every part of their medical history with each other and non-paternity is common. Many donors are often young (under the age of 25) and so even if a donor has no known medical issues at that time in their life – that does not mean they won’t develop a condition such as schizophrenia later in life. In the business of life, there aren’t guarantees.
Even if we take everything known about a donor at face value, how is a family expected to know if a donor with a sibling with schizophrenia or a donor with a sibling with Down syndrome is more likely to have an impact on the life of their future child? In high school biology class we may have learned about Mendel’s peas and autosomal recessive inheritance, but most family history does not fall into that easy to digest pattern. Even for the conditions that do, that lesson in high school does not prepare people to compare a donor’s expanded carrier screening of 100-200 conditions from 2018 to a current updated carrier screening panel with over 500 conditions. If the donor’s profile even lists the methodology for the testing, it is arguably written in gibberish to most consumers. How is a family expected to figure out that carriers of Cystic Fibrosis have a 1/200 chance of pancreatitis at some point in their lives? They likely can’t, and this is where genetic counselors fit in.
Genetic counselors can be the translators and tour guides for individuals going through ART in countless ways:
- Providing guidance to families regarding the implications of the donor’s family and medical history
- Providing guidance on key-terms and what details are relevant to the family’s priorities when looking through donor websites
- Walking families through the difference between selected donor profiles and comparing the donors’ profiles to their own family/medical history and genetic testing records
- Providing pre-test counseling on the genetic tests offered throughout the ART process (carrier screening, karyotypes, preimplantation genetic screening, prenatal genetic screening) and helping families decide which, if any, are the “right” choice for them
- Explaining what positive and low-risk genetic testing results mean for the family and their future children
- Helping donor agencies take detailed donor family and medical histories
- Helping to do pre-test and post-test counseling for donors regarding the genetic testing required of them to donate
- Helping donor agencies call families with updates to their donor, or biological half-siblings, medical histories
This is a field where genetic counseling is so important. Even seemingly well established genetic tests such as carrier screening or preimplantation genetic testing (PGT), may be advertised as conclusive even though they have significant limitations. For example, there is up to a 2-5% chance that a genetic condition could be missed with PGT (false negative) and false positives can also occur with this testing – not to mention that there is really limited data on some testing that is commonly done and acted upon that can have serious implications (e.g. the implications of mosaic embryos). These tests may also bring up unexpected results (such as diagnosing an individual with their own genetic syndrome instead of only providing results only relevant to future offspring). With conflicting medical opinions on what the best next step is when these tests come back with increased risks, or even low risk results, the decision on how to proceed may fall on patients – as if they have training in how to weigh these complex options.
So many patients that I have spoken with who are going through ART either feel like they would like more personalized care and guidance, or that genetic testing is being forced on them. This is their body and their baby and genetic counselors are perfectly trained to provide non-directive help guiding individuals through this process. Genetic counseling, and testing, should not be tools focused on covering liability but should be focused on providing unbiased counseling regarding the real benefits and limitations of this process and technology. There can be incredible pressure when going through the often long, and expensive, ART process to “do everything right,” when “right” does not exist to begin with. As a genetic counselor it is not my job to tell someone what they “should” be worried about. It is incredibly rewarding to be there for people using ART to create their families – translating the medical jargon and vast testing options into manageable nuggets that are in the context of that individual’s needs and goals. I only wish more people had access to emotion validating, personalized genetic guidance through this process.
At Genetic Support Foundation, we are passionate not just about discussing these complex genetic and family planning decisions but also doing the work to make things better. If you, or your patients, are going through the ART process and feel uncertain about how to figure out the right path for you or just want a second opinion – we are here to help. We can see patients in all states and are here to provide unbiased genetic counseling focused on your goals and your priorities. You can schedule on our website or have your provider fax us a referral at 844-813-3892.