What to do with embryos you aren’t transferring?

In the world of In Vitro Fertilization (IVF), the main goal is to obtain embryos that are eligible for transfer. Everyone hopes to achieve at least one, if not more, embryos that don't carry the genetic variants they’re testing for with PGT-M or any chromosomal conditions being examined through PGT-A.

But, while there is a lot of emphasis on getting those eligible embryos, there is not a lot of talk about what happens to those embryos not eligible for transfer. These are the embryos that might have the genetic variants being tested for or chromosomal conditions. Figuring out what to do with these embryos often comes up before someone even knows if they’ve got any embryos at all. There is also the discussion of what to do with embryos that may be eligible for transfer but the individuals have completed their family.

Let's dive into these important questions —something that is often called "embryo disposition" on consent forms. We'll explore the choices available and try to make sense of this complex decision-making process.

Thaw and Memorialize:

• Description: Individuals may choose to thaw their embryos and bury them or other acts of memorialization

• Considerations: May be a way to acknowledge the work to create the embryos and their meaning but also avoid some of the emotional challenges that arise with other options

• Pros: Provides closure, eliminates ongoing storage fees.

• Cons: Emotional distress, ethical considerations.

Transfer the Embryos - AKA Compassionate Transfer:

• Description: This option involves intentionally transferring embryos with identified chromosomal abnormalities, with the expectation that the outcome will either be a miscarriage or implantation failure. Individuals may choose to transfer embryos that have the genetic variant, if they feel that the resulting symptoms from the genetic variant are manageable to care for a child with the condition.

• Considerations: While the intended outcome may be a miscarriage or implantation failure, it's crucial to acknowledge the unpredictability of the process. An ongoing pregnancy could occur despite expectations, and the accuracy of Preimplantation Genetic Testing for Aneuploidy (PGT-A) is not foolproof, allowing for the possibility of an ongoing pregnancy without the anticipated chromosomal condition. If the embryo tests positive for a genetic variant, the resulting baby may face health concerns.

• Pros: Reduces the number of embryos in storage

• Cons: An ongoing pregnancy with a chromosomal abnormality may defy the initially expected outcome. If the embryo carries a genetic variant, the resulting baby could exhibit symptoms related to the condition. Ethical considerations also come into play such as the knowledge of the baby’s genetic status before they have a chance to decide to know this information. Additionally, there is a potential risk of associated miscarriage, especially if that was the anticipated outcome for transferring aneuploid embryos.

Embryo Donation:

• Description: Individuals can choose to donate their embryos to another couple/individual - this can be a family member or unrelated individuals.

• Considerations: Involves legal agreements and open communication between the donating and receiving families. Will there be the option to meet the children born from the donated embryos? If anonymity is desired, it may not be possible with the current direct to consumer genetic testing revealing biological relationships.

• Pros: Offers a chance for the embryos to develop into a family, reduces the number of embryos in storage.

• Cons: Emotional challenges, potential legal complexities.

Thaw and Dispose:

• Description: Individuals may choose to thaw their embryos and allow them to expire.

• Considerations: Often chosen when other options are emotionally or ethically challenging.

• Pros: Provides closure, eliminates ongoing storage fees.

• Cons: Emotional distress, ethical considerations.

Donation for Research:

• Description: Some individuals opt to donate their embryos for scientific research, contributing to advancements in fertility treatments.

• Considerations: Strict ethical guidelines and institutional review board (IRB) approval are usually required.

• Pros: Advances medical knowledge, may help others facing infertility.

• Cons: Ethical concerns, potential emotional impact.

Cryopreservation and Future Use:

• Description: Some individuals choose to keep their embryos frozen for potential future use. For embryos that are not eligible for transfer, some people may wait hold onto their embryos to see if there are recommendations and new scientific discoveries later.

• Considerations: This option provides the chance for additional attempts at pregnancy without going through the entire IVF process again.

• Pros: Cost-effective, less invasive than repeated IVF cycles.

• Cons: Uncertain success rates, ongoing storage fees.

The decision regarding embryo disposition is deeply personal and influenced by a multitude of factors, including emotional attachment, ethical beliefs, and practical considerations. As technology continues to evolve, new options may emerge, providing individuals with even more choices. It's crucial for individuals to thoroughly explore each option, seek guidance from medical professionals, and engage in open and honest communication with their partners to make a decision that aligns with their values and brings them a sense of peace on their path to parenthood.

Often the decision is made at a time where things are still hypothetical, so once someone is faced with the reality, they may choose another option. It is okay to change your mind at a later date, as it is not uncommon to do so. This article discusses what people have done with frozen egg cells, and highlights the changing opinions and various perspectives on the options available. Ultimately, navigating the complex terrain of embryo disposition requires careful consideration, compassion, and a deep understanding of the unique journey each person undertakes.

Pathways to Parenthood

Navigating Family Planning with a Genetic Risk of an Inherited Neurodegenerative Condition: Exploring Your Options

Life is full of choices, and family planning is one of those areas where there are many options. Some individuals conceive spontaneously, conceive with assisted reproductive technologies, pursue fostering, step parenting or remain childfree. There’s not a right size fits all approach.

In this blog post, we'll explore various family planning options available, each with its own set of considerations, benefits, and challenges, focusing on when someone has a personal or family history of an inherited neurodegenerative disease such as amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD).

The Genetics of Inherited Neurodegenerative Conditions

One place to start on this journey is to understand the “genetics” of the inherited neurodegenerative condition. For some families, a specific genetic variant is identified. Having the genetic variant identified allows for the possibility for other relatives to get tested. Knowing the genetic variant can also open up additional genetic testing options relating to reproduction. If someone knows the condition is inherited but does not know the specific genetic variant, then some of the below testing options may not be available. Genetic testing may not be helpful to everyone. Some individuals do not want to know their personal genetic status or test future pregnancies for the condition. It is important to discuss with your doctors about the benefits and limitations of genetic testing for the inherited condition.

For some individuals, it may be helpful to identify the “recurrence risk” or chance to either pass on the genetic variant identified for the family or to inherit the variant. You can check with your doctor or genetic counselor to better understand the chance to pass on or inherit the genetic variant.

In many cases, the chance is 50% or 1 in 2 because inherited neurodegenerative conditions can have autosomal dominant inheritance. This means that each time the person conceives a pregnancy or embryo, there is a 50% chance to pass on the variant. However, there are other types of inheritance patterns for these conditions including autosomal recessive and x-linked which have different chances of passing on or inheriting the condition.

If someone knows the inheritance pattern is autosomal dominant and they personally have a genetic variant, then they would have a 50% chance to pass on the variant to their future children. Each time they conceive a pregnancy or embryo, there is a 50% chance the pregnancy or embryo will inherit the variant.

Sometimes people think if they have 2 kids and one of them has the variant, then their other child won’t have the variant. However, this is not how genes are passed on. Regardless of your other children’s result, each child will have a 50% chance to have the variant. The status of one sibling does not determine the status of the other sibling. For example, someone may have 2 kids and it is possible both kids have the variant, neither of the kids have the variant, or one or the other has the variant.

Knowing the inheritance and chance to pass down the condition may help inform which option aligns best with your circumstance.

What are the reproductive options available?

The options below are not listed in any particular order. There may be additional options that individuals pursue not listed. Ultimately, whichever decision(s) someone makes regarding their reproduction is the right decision for them.

Spontaneous Conception with Prenatal Diagnosis

Spontaneous conception is to conceive without any interventions - some may referred to this form of conception as “natural”, yet this term is fading away.

While pregnant, you can have the choice of testing the pregnancy for the genetic variant through prenatal diagnosis. By testing for the variant in pregnancy, this can either provide reassurance the pregnancy does not have the genetic variant, which for some, is important to know in order to be able to go through their pregnancy less anxious. Alternatively, the pregnancy may be found to have the variant which can give people the option to pursue interventions at that time. Testing the pregnancy would be through a procedure which has a risk to the pregnancy such as potential miscarriage, so this is not an option everyone is comfortable with.

It is important to know some clinics may be hesitant to provide genetic testing of a pregnancy because inherited neurodegenerative conditions typically do not have symptoms until the person is an adult, which is referred to as “adult onset conditions”. Usually, children and pregnancies are not tested for adult onset conditions as it is not expected to change the child’s healthcare management. Receiving a positive genetic test as an adult can be difficult, so the argument is by testing and revealing this information to a child, it may put undue stress on him/her as well as take away their autonomy to choose whether to learn this information or not.

In some cases, it may be possible to test the pregnancy, but with the understanding that a termination would follow if the results were positive. No doctor can force someone to pursue a termination, so this is not a requirement for prenatal diagnosis. However, the complexities of knowing a child’s status before him/her and a loss of their autonomy is something to weigh and discuss.

Spontaneous Conception without Prenatal Diagnosis

Another route involves spontaneous conception but without testing the pregnancy. Instead, someone may choose to have their child decide if and when they'd like to undergo genetic testing in their late teens to adulthood.

Assisted Reproductive Technologies

Assisted reproductive technologies are interventions used to help a person or couple conceive. Some interventions include intrauterine insemination (IUI), in vitro fertilization (IVF), and the use of donor egg, sperm, or embryos.

Preimplantation Genetic Testing for Monogenic Conditions (PGT-M) with In Vitro Fertilization (IVF):

IVF with PGT-M is one option for individuals who have a genetic variant. PGT-M is a genetic test of embryos in order to identify which embryo does not have the genetic variant. For embryos without the genetic variant, they are then transferred to the person’s uterus to hopefully become a pregnancy. PGT-M allows for the ability to substantially reduce the possibility of having a child with the inherited variant. In order to test embryos, the process of IVF has to ensue.

IVF is a multiple step process. Egg cells and sperm cells are retrieved by specialized doctors called reproductive endocrinologists (REIs). Egg retrieval takes weeks, careful planning, and medications. Ordinarily, an individual with ovaries releases one egg per month that could potentially be fertilized by sperm. However, for IVF, the goal is to retrieve as many eggs as possible in order to increase the chance of being successful. In order to produce more eggs more frequently than once a month, the person with the ovaries is given medication.

After many eggs are matured, the individual goes to their doctor’s office for egg retrieval. The number of viable eggs collected ranges from 0-30. Sperm retrieval can occur around this time. Once the eggs and sperm are retrieved, the sperm will fertilize the eggs in a lab setting.

It's pertinent to understand that not all eggs successfully fertilize, and not all fertilized eggs will develop into embryos. It can be disheartening to have a good number of eggs, but experience a loss in the number after fertilization.

Embryos are then tested with PGT-M and depending on the results, will determine which embryos to transfer.

PGT-M with IVF takes many months to complete and may involve multiple rounds of IVF given the number of eggs or embryos that are “lost” either to not fertilizing, not developing, or being positive for the variant or other health concerns. Insurance may not cover the testing or IVF procedure, so it is important to check with your insurance provider.

PGT-M requires DNA from the couple and/or donors as well as possibly the need for other relatives’ DNA and genetic testing reports. While PGT-M might appear as a straightforward option to avoid conceiving a pregnancy with the genetic variant, it still has its emotional ups and downs and uncertainty for success. It is not guaranteed that a couple has an embryo that is negative or suitable to transfer.

For more information, please check out this page on PGT-M.

Intrauterine Insemination (IUI) with Donor Sperm:

IUI involves placing sperm directly into the uterus during ovulation. If the person with inherited neurodegenerative condition is male, then using donor sperm can help prevent passing on the genetic variant. However, the success rate of IUI can vary, and multiple attempts might be necessary. A fertility clinic can further discuss donor sperm options and the success rates of IUI.

If the person with the inherited neurodegenerative condition is female, and she needs donor sperm for other reasons, it is important to know that PGT-M is not an option with IUI. PGT-M is only an option with IVF. So, if a female wants to prevent passing on her genetic variant and needs donor sperm, then she will need to pursue IVF with PGT-M.

Use of Donor Gametes (Egg or Sperm) or Embryo:

Utilizing donor eggs or sperm can be an option if you or your partner have an inherited neurodegenerative condition. Instead of using the sperm or egg from the person with the genetic variant, a donor is utilized to provide the other genetic material needed for an embryo. A fertility clinic can further assist with selecting a donor and the next steps. RESOLVE is a helpful organization with more detail on this option.

Using a donor embryo is also an option as some families have more embryos than they intend to transfer and are open to sharing them with others. Empower with Moxi is an organization with educational content on embryo donation and helps with matching a family with an embryo. Utilizing donor egg, sperm, or embryo avoids the chance of passing the genetic variant to a pregnancy. However, it's important to consider emotional and psychological aspects, such as the disclosure of donor conception to the child.

Surrogacy:

Surrogacy entails an individual with a uterus carrying a pregnancy on behalf of another person or couple. This option can be considered if someone is unable to carry a pregnancy due to health concerns or for a same sex couple. There are two types of surrogates: gestational surrogacy and traditional surrogacy. Traditional surrogacy is the less pursued option as the surrogate provides their egg cells and carries the pregnancy. Gestational surrogacy is when the surrogate carries the pregnancy, but the embryo is conceived with either donor egg/sperm and/or the intended parents’ egg/sperm.

For surrogacy, it often requires IVF; therefore, PGT-M can be made available as well. The above description of the PGT-M process would be the same except there will need to be special considerations regarding the use of a surrogate and legal discussions. Surrogate.com provides more information on next steps and considerations.

Adoption:

Adoption opens doors to providing love and nurturing homes to children. Numerous resources offer a window into understanding the adoption process. Adoption’s journey might be time-consuming and emotionally challenging. Those who were adopted might also navigate emotional difficulties. Adoption shouldn’t be left as a last resort but a priority for completing ones family.

There are different adoption agencies and options to explore. Reaching out to an organization and attending an informational session can be one of the first steps of the process. Considering Adoption has great content on how to initiate adoption. Another helpful resource and lens into the process is by Youtuber and lawyer, Lucrece Bundy.

Fostering:

Fostering is a chance to offer care and stability to children in need. A good place to begin is with learning about foster care and the impact on children. One way to do this is by contacting agencies and attending their orientations. Likely, there wil be an application and training involved prior to being able to foster children.

The journey into fostering can create a positive impact on children's lives, offering them stability, care, and opportunities to thrive, but there are important considerations. Youtuber, Laura, and her accompanying website, Foster Parent Partner, shed light on some of those considerations.

Living without children:

Choosing not to have children is a valid option. Perhaps parenthood never resonated with you. Others may have the desire for children, but feel the other options above are not concordant to their values, hopes, or finances. Embracing a childfree lifestyle enables you to dedicate focus to other aspects like personal well-being, career, community involvement, and relationships. However, it might bring about internal conflicts too. Seeking support and consulting your healthcare provider regarding contraception can be your next steps.

Several support organizations can offer insights:

For individuals who are childfree by choice: We are Childfree

For individuals who are childless by circumstance: Gateway Women with resources for men

The above are some options to family building, but it is not a comprehensive list. People may pursue multiple family building options whereas others will stick with one.

Considerations and Decision-Making

When contemplating your family planning options, it's essential to consider factors beyond genetics, such as your emotional readiness, financial stability, support network, and overall health. Here are some questions to reflect on:

1. What are your values and priorities? Consider your desire to have a biological connection to your child versus your commitment to providing a loving home regardless of genetic relatedness.

2. How do you handle uncertainty?

3. What are your emotional and physical capabilities?

4. What resources do you have? Think about the financial implications of various family planning routes, from fertility treatments to adoption costs.

5. What is the potential impact on your relationships? Discuss these decisions openly with your partner and family to ensure you're on the same page and have a strong support system.
   
   

Each of the above options carries within it a blend of hope, joy, heartache, and an entire spectrum of emotions akin to any family-building journey. There is uncertainty and a lot to grapple with but families are created every day with one or a combination of the above options. Seek support from your family, friends, and support groups and know that whichever route you choose, it’s the best one for you and your future family.

Research Results

When pursuing preimplantation genetic testing for monogenic conditions (PGT-M), you will need to provide a lot of information regarding your personal and family history as well as genetic test reports. This post reviews the reasons why genetic testing reports are important and what someone may do if their genetic testing was performed with a research lab or organization.

Genetic testing reports might belong to either you or your partner, depending on who underwent the genetic testing, as well as reports from other relevant relatives. The reason the lab requests the original copy of the genetic testing performed is because they are ensuring their ability to design a test specific to your family's DNA. As discussed in prior blog posts, PGT-M stands apart from other genetic tests that are readily available to anyone. PGT-M is exclusively tailored to your family's genetic data.

The reports are often needed at the beginning of the process during “case review or document review”. For some cases, the initial reports provided are sufficient to pass the document review stage, and you are scheduled for a genetic counseling appointment. After this appointment, the reports may reviewed by the entire lab team to ensure the information on the reports are sufficient and no other information is needed prior to starting the test design.

One of the first things the lab looks at is that there is an identified genetic cause for the inherited neurodegenerative condition. Otherwise, if there is not a specified genetic cause, the lab will not know what gene to design a PGT-M test for.

Sometimes, families have pursued research testing in which their reports may have been de-identified. In such cases, it becomes crucial for the lab to identify the owner of the report and establish some form of identifiers, which often takes the form of a unique number linked back to the respective family member. Each lab follows its own set of protocols pertaining to identifiers, with a common requirement being the use of two identifiers for adequate identification. The lab will specify what identifiers they need either at the “document review” phase or after the genetic counseling consultation.

Furthermore, the lab needs information about the research program's methodology, the specific gene, and the variant pinpointed for the individual. Research programs might use diverse technologies or naming conventions that are incompatible with those employed by the PGT-M lab. Consequently, in specific scenarios, the PGT-M lab might request the individual to undergo testing with a clinical laboratory possessing CLIA and CAP approval.

PGT-M costs a lot of money, time, effort, and resources. It is crucial that PGT-M is made available to families where there is a clear chance of passing on a variant. While it may feel like a lot of hoops to jump through to get the genetic test reports, it is imperative the PGT-M lab does not inadvertently design a test that is incorrect. Some labs require payment prior to designing a test or shortly after, so if an issue can be circumvented in the early stages of the process, it is ideal for all those involved.

In summary, if you and/or your family pursued genetic testing with a research lab, your report may be sufficient for the PGT-M lab’s purposes, but this will be dependent on the lab and what the research lab reports out. It is possible you and/or your family are asked to be retested at a clinical laboratory.

DNA Banking for the Future

When faced with the impending loss of a loved one due to an inherited neurodegenerative condition, the idea of asking them or their caregiver to bank their DNA might seem like the last thing you’d want to ask about. However, one way to view this ask as a way for your loved one to meaningfully contribute to your potential future family and leave a legacy. Each family and their views will certainly differ with this idea. It may be that your relative’s DNA is necessary or advantageous in order to pursue PGT-M test design. In this blog post, we'll explore the concept of DNA banking for relatives diagnosed with an inherited neurodegenerative condition and the potential benefits it holds for PGT-M.

Understanding DNA Banking

DNA banking involves the collection, storage, and preservation of an individual's genetic material. This process ensures that their genetic information is safeguarded for future use, including research, medical advancements, and family planning.

The Importance of DNA Banking for PGT-M

DNA banking allows families to obtain a DNA sample of a loved one who has been diagnosed with an inherited neurodegenerative condition. This information can be critical for families considering preimplantation genetic testing for monogenic conditions (PGT-M) to prevent passing on the genetic variant related to the condition.

As discussed in previous posts, PGT-M is a unique assessment because it is specially designed for each family’s DNA. In some cases, in order to design the test, other relatives’ DNA will be necessary. While this may not be a requirement for everyone’s case, it may still be worthwhile to bank the DNA of your loved one in the event you plan to pursue PGT-M later or they are nearing the end of their life.

Timing does not always perfectly align. If you are not yet sure you’d like to pursue PGT and aren’t sure if your relative’s DNA will even be needed, it can still be a good idea to bank their DNA just in case. Maybe you know you’d like to pursue PGT-M, but your loved one may be passing away soon and you aren’t yet at the point in which the lab is requesting DNA samples from the family, DNA banking could be a good solution to this timing issue. You can also ask the lab what their solution could be in this case. Sometimes, if you are very close to pursuing PGT-M, the lab may take your relative’s sample earlier in the process.

Navigating the Process

1. Consult a lab that offers DNA banking. If you are working with a genetic testing lab for PGT-M already, contact the genetic counseling team to inquire of their recommendation of where to bank the DNA. The hospital that your relative most frequently visits may have DNA banking options. Otherwise, you can do a google search of “DNA banking labs”. One lab that is well known for its banking is Prevention Genetics. However, this is not the only lab available. Cost, logistics, and shipping are important factors to consider. You want to make sure the DNA banking lab is aware of your future plans to possibly use the DNA for PGT-M.

2. Openly discuss the decision with your relative diagnosed with the inherited neurodegenerative condition and the family. Respect their wishes and ensure they understand the purpose and potential impact of DNA banking.

3. Collection Process: DNA banking typically involves collecting a blood or saliva sample. The process is non-invasive and relatively straightforward. The collected sample is then processed and stored at the chosen DNA bank.

Conclusion

Banking the DNA of a relative will feel different for every family depending on relationships, family values and morals, timing, and experiences. DNA banking may feel like a meaningful way to preserve your relative’s legacy while potentially making a impact on future generations through PGT-M, or it may feel like a difficult ask at this time in life. By engaging in discussions with your relative and family members, the aim is to reach a decision that is most in line with the values held by all involved parties.

Talking with your family about PGT-M

Embarking on the journey of preimplantation genetic testing for monogenic disorders (PGT-M) can be both exciting and anxiety-inducing. PGT-M offers a potential option for your future family, but it also raises questions about how to obtain the necessary genetic information. If the thought of requesting DNA samples and genetic test reports from your relatives makes you uncomfortable, you're not alone. In this blog, we'll discuss strategies to navigate PGT-M without feeling uneasy about involving your family members.

Understanding PGT-M

Preimplantation genetic testing for monogenic disorders (PGT-M) is a genetic test performed on embryos that are created through the process of in vitro fertilization or IVF. It evaluates for a specific genetic variant that a person or couple could pass on. PGT-M provides information on which embryos have the genetic variant and which do not. With this information, the family can decide which embryos to transfer.

The Dilemma of Seeking Family Involvement

Involving your relatives in the PGT-M process can provide valuable genetic information and sometimes is necessary in order to design a PGT-M test. Some individuals might feel hesitant or uncomfortable about requesting DNA samples or genetic test reports from family members due to privacy concerns, strained relationships, or cultural reasons. Here are some strategies to consider if you find yourself in this situation:

1. Genetic Counseling: Begin by consulting a genetic counselor. They can help you explore your options and provide guidance on the importance of involving family members, while also addressing any concerns you might have. If you are fuzzy on why you need your relative’s DNA and/or information, then the genetic counselor can review the reasons why.

2. Explaining Your Intentions: If you're comfortable, have an open and honest conversation with your family about your decision to pursue PGT-M. Explain your reasons and emphasize that your intention is to make informed reproductive choices, not to invade their privacy.

3. Reassure Privacy: If privacy is a major concern, assure your family members that you will handle their genetic information with the utmost care and will only use it for the purpose of PGT-M. You can check with the lab as well to see how they handle this information and relay this back to your relatives. Labs are bound by HIPPA and are required to pay special attention to patient information.

4. Professional Mediation: In some cases, involving a neutral third party, such as a genetic counselor or your nurse, can help facilitate conversations between family members about sharing genetic information. They may also be able to request records from the institution where your relative had genetic testing, yet your relative will need to sign a medical release to allow for this to happen. This approach may take a few weeks as the healthcare provider may be sent to the hospital’s medical record department, who fulfills the order.

5. No Family Member Approach: If obtaining genetic information from family members remains challenging, ask the genetic counselor at the lab if your case is amenable to a “no family member approach”. The “no family member approach” is not always the ideal or available option, so it is reserved for when there is no way of involving family members.

6. Respect Boundaries: It's important to respect the boundaries and decisions of your family members. If someone is uncomfortable providing genetic information, try to understand their perspective and explore other options.

7. Special Consideration: If a relative is nearing the end of their life, it may be worthwhile to have the discussion of banking their DNA and obtaining consent from them or their care provider.

Conclusion

Pursuing preimplantation genetic testing for monogenic disorders is a personal decision that comes with its own set of challenges. Seek the guidance of genetic counselors and professionals who can help you navigate the complexities of PGT-M while respecting the privacy and feelings of your family members.

Here are some quick paragraph to share with relatives when explaining the need for their DNA samples and genetic test reports:

_____________________________________________________________________________________________________________________

Hey there,

I hope you're doing well. I wanted to share something important with you—I'm considering a process called preimplantation genetic testing for monogenic conditions (PGT-M) to reduce the possibility of passing on the genetic variant related to our family’s inherited neurodegenerative condition. The idea is to have the chance for a pregnancy without passing on the variant.

For this to work, the lab I'm working with needs a bit of help. They're requesting your DNA sample and genetic test report. Unlike the previous genetic testing you had, this one is tailored specifically to our family's DNA. Just to clarify, the lab won't redo your testing or use your DNA or reports for anything else—it's solely to design the PGT-M test.

Once they have your genetic test report, they'll send you a test kit to your home. It comes with instructions on how to use it and how to send it back to the lab.

Thank you so much for considering this. Your help means a lot to me. Let me know if you have any questions or concerns—I'm here to chat about it whenever you're ready.

_______________________________________________________________________________________________________________________

Hi,

As you may already know, I am planning to pursue the option of testing embryos for the family’s genetic variant called preimplantation genetic testing for monogenic conditions (PGT-M). This option allows for the possibility of having a pregnancy without the chance of passing on the genetic variant.

In order to start this process, the laboratory I am working with is requesting your DNA sample and genetic test report. The lab has to design a test specifically to our family’s DNA, unlike the genetic testing that you had in the past, which is an off the shelf test. The lab will not be redoing your testing and will not be using your DNA or reports for any other purpose but to design a PGT-M test.

Once they have your genetic test report, they will then send a test kit directly to your home. Instructions will be provided in the kit and how to ship the kit back to the lab with no charge to you.

I know it is a lot to ask, and I really appreciate you considering this. Please let me know of any questions or concerns.

Nondisclosure and Exclusion Testing

Discovering you have a family history of an inherited neurodegenerative condition and a genetic variant has been identified for the condition can be a double-edged sword. On one hand, it can raise awareness and encourage proactive health measures. On the other, it can spark anxiety and uncertainty about personal risk. Genetic testing provides valuable insights, but the decision to pursue testing is complex. Some individuals want to get genetic testing performed to know if they inherited the genetic variant whereas other do not want to know this information.

Nevertheless, a person that doesn’t want to know their status may still want to reduce the possibility of passing on the inherited neurodegenerative condition to future children. For these individuals, they may have the option to do non-disclosure or exclusion preimplantation genetic testing for monogenic disorders (PGT-M). In this blog, we'll delve into the considerations surrounding non-disclosure and exclusion PGT-M testing.

Genetic Testing

Genetic testing can provide a clearer picture of your chance of developing symptoms of the inherited neurodegenerative condition. Identifying a specific variant can enable early monitoring, lifestyle adjustments, and potential interventions. Moreover, genetic testing can be empowering for family planning decisions, offering the opportunity to test embryos or pregnancies for the genetic variant.

Embarking on genetic testing is a personal decision influenced by various factors. Some individuals are anxious about not knowing their genetic status and want to take control of their health journey. Others, however, may experience anxiety too but because of the possible uncertain outcomes surrounding a neurodegenerative condition. There is no right answer of whether or not to have genetic testing for the inherited neurodegenerative condition.

PGT-M Testing: Exploring the Concepts of Non-disclosure and Exclusion Testing

Non-disclosure or exclusion PGT-M testing testing approaches enables individuals to have their embryos screened for the genetic variant without being informed about their status. This way, individuals can transfer embryos not at risk of inheriting the familial genetic variant. Non-disclosure and exclusion testing are two separate approaches with the same goal. If you’d like to learn more about PGT-M, please check out this informational page as this blog post will skip reviewing the PGT-M process.

Non-Disclosure:

With this approach, the genetic status of the individual at risk is known by the laboratory performing the PGT-M. However, the individual has signed consents to ensure that the lab does not reveal this information to the individual. The benefit of this approach is that only embryos that have the genetic variant are excluded from transfer. However, the limitation of this approach is that it is possible the individual’s genetic status is accidentally revealed.

Exclusion:

With this approach, the genetic status of the individual is NOT known by the laboratory. Instead, the lab determines which gene copy the relative with the inherited neurodegenerative condition passed on to the individual. For any embryo that inherited that gene copy, the embryo is excluded from transfer.

The limitation of this is that the gene copy could be normal, and embryos may be excluded when they otherwise are not expected to develop symptoms related to the neurodegenerative condition. The lab is not checking to see if the gene copy has the variant, only who the gene copy was inherited from. The benefit of this approach is that the genetic status of the individual is not known to any party.

To better explain exclusion PGT-M testing, we can take a look at the above picture. It shows a father, who has the neurodegenerative condition, a mother, and son. The son does not know if he inherited the genetic variant from his father. The two green sticks below the father are suppose to represent two genes. For most of our genes, we have two copies: one we inherit from our fathers and the other from our mothers. The son inherited one green gene from his father and the other blue gene from his mother. It is not known if he inherited the green gene with the genetic variant or the normal green gene from his father. His father has one gene with the variant and one gene without the variant. He has a 50% chance to pass on the one with the variant to his son but a 50% chance to pass on the one without the variant.

If the son pursues exclusion PGT-M testing, then any embryo that inherits the green gene copy will be assumed as having the genetic variant because the green gene copy comes from the son’s father, who has the condition. By making this assumption, it allows the son to remain unaware of his genetic status while also excluding any embryo that MIGHT have the genetic variant related to the inherited neurodegenerative condition.

Key Considerations

Comfort with the Unknown: With exclusion testing, there is the possibility of excluding embryos for transfer that may otherwise not have the genetic variant. Some people may find this difficult because they may wonder if those embryos actually inherited the normal copy of the gene and could be transferred.

Determination: Few labs and clinics offer the option of nondisclosure testing given the ethical concerns of one party knowing the genetic status of the individual, while the individual does not have this information. This paradigm is not common in the western medical system given the intense desire for patients to have all their medical information accessible to them. The option of nondisclosure may require more advocating.

Future: While you may not want to know your status at this time, if it comes a time that there are no embryos available to transfer or a change in mind of knowing one’s status, then this would require a new PGT-M test design, possible need to rebiopsy and retest embryos, and an increase in cost and time.

Conclusion

Family history of an inherited neurodegenerative condition can be a source of concern and curiosity. Genetic testing offers insight into one's risk, but it's not a decision to be taken lightly. For those concerned by their genetic risk and possibility of passing it on to future generations but are hesitant to know the specifics, non-disclosure/exclusion PGT-M testing can be an option worth exploring. However, like any decision, it requires careful consideration of emotional, ethical, and medical factors.