Empowered by Knowledge: Example Genetic Disorders with Manageable Treatment Options
In the United States, over 30 million people live with rare or undiagnosed diseases, often facing...
The Benefits of Genetic Testing for LGBTQ+ Families
There has been an increase in the use of egg, sperm, and embryo donation services over the last few decades. This has been a huge boon to couples who want a family but are unable to conceive naturally. Donor eggs and sperm are especially wonderful options for couples in the LGBTQ+ community who are ready to grow their families.
One challenge that LGBTQ+ families may face is the hereditary unknowns that come with non-identified donors. Many assisted reproductive clinics do provide some genetic screening procedures, but the majority test for only a few of the most common conditions. This leaves considerable amounts of uncertainty about a child’s future health. Recent scientific advances in genetic testing technologies provide a solution by allowing us to extensively screen for hundreds of genetic conditions.
What is Genetic Testing?
Genetic testing, also called DNA testing, is a medical test that can identify variants, or changes, in a person’s genes or chromosomes. Genetic testing is done to confirm or rule out possible genetic disorders or to determine a person’s chance of developing a genetic disorder and then passing it on to the next generation.
Genetic testing looks for variants in genes. Variants are small, permanent changes in the DNA sequence of a gene. Genetic variants, sometimes called mutations, can have negative effects on human development or health. A negative variant may prevent a gene from doing its job. For instance, if a gene is tasked with providing the instructions for the manufacture of a protein, it’s possible that a variant can make changes to the gene’s instructions. The result may be a missing or damaged protein. If the protein is important for development or growth, this can result in a genetic disorder.
Genetic variants can be passed down from a parent or they can arise by themselves. Variants passed down from parents are called hereditary variants and are passed to the next generation through the cells of the sperm or egg. These types of variants, also called germline variants, will be present in the DNA of every cell in the child’s body.
Do Sperm and Egg Banks Do Genetic Testing?
In the United States, it is not legally required for donors to be genetically tested. Most sperm and egg banks do not carry out sufficient genetic testing. Many clinics only test for a few of the most common genetic disorders, like cystic fibrosis and Down syndrome. FORESITE 360 currently tests for hundreds of genetic conditions – all that can be treated or managed while a child is young.
When someone applies to be a donor at a clinic, there are a few requirements set forth by the Food and Drug Administration (FDA). These include a physical exam and screenings for infectious diseases, such as hepatitis, HIV, and Zika virus. The FDA does not require human tissue donors to be screened for any genetic disorder.
The American Society for Reproductive Medicine (ASRM), a professional society led by medical doctors, periodically publishes recommendations for gamete donor screening, including genetic testing. The 2021 ASRM recommendations go above and beyond the minimum requirements set forth by the FDA. In addition to a physical exam and infectious disease testing, the ASRM recommends psychological screening and genetic screening.
The ASRM recommends screening for cystic fibrosis, spinal muscular atrophy, thalassemia/hemoglobinopathy carrier status, and sometimes fragile X syndrome. The ASRM states that expanded carrier screening is often appropriate. Considering that there are hundreds more genetic tests for different conditions available to us, expanded carrier screening can answer many more questions.
The Benefits of Testing Children of LGBTQ+ Couples
Sometimes LGBTQ+ individuals build loving families by using an anonymous egg, sperm, or embryo donation. One challenge that families who rely on gamete donation may experience is the uncertainty that comes with having a non-identified donor. While the donation is a gift, families can worry about the child’s health and future. The genetic history of the donor and their family is unknown and often has not been adequately tested for. Fully testing your child’s DNA through ForeSite 360 can provide peace of mind and instruction for the future.
If you made use of a donor egg or sperm to begin your family, testing for any variants can provide a sense of relief from the uncertainty of the future. It can help you make informed decisions about your child’s health and future. It can also help you feel more in control because the knowledge will arm you with the information you need to take an active role in prevention, monitoring, or treatment steps. Testing your baby or young child can identify any possible genetic disorders early, sometimes long before any symptoms start. This may allow treatment to begin as early as possible and may set your child up for a healthier future.
Fore Genomics testing supports a healthier future and more peace of mind for children and those who love them. To be as scientifically thorough as possible, FORESITE 360 offers full DNA sequencing and genetic testing for approximately 350 conditions. Highly trained and certified genetic counselors guide parents through the process. This can give you answers and help prepare you for any genetic conditions that may arise in your child, starting from a young age. Testing can provide your family with a profound sense of relief from the uncertainty of life and allow you to make informed decisions about your child’s health and future.
Sources:
https://pubmed.ncbi.nlm.nih.gov/33838871/
https://medlineplus.gov/genetics/understanding/testing/benefits/
