For individuals and couples undergoing fertility treatment, genetic counseling can be an invaluable part of the process, providing insights, guidance, and support as they make decisions about family planning. But what exactly is genetic counseling and why is it often recommended during fertility treatment? To help, we reached out to Ushta Davar Canteenwalla, MS, LCGC, the founder of FindGenetics, to get explore how genetic counseling can make a difference and provide information you need to feel confident in your fertility journey.
What is Genetic Counseling?
Genetic counseling is a process designed to help individuals understand their genetic testing options and what they might mean for their family history. Through a consultation with a genetic counselor, patients can discuss their family history, learn about possible genetic risks, interpret results from genetic tests, and receive guidance in making informed choices that align with their unique circumstances and values. A genetic counselor not only explains the results but also provides context, helping patients understand the limitations and implications of certain tests and how they might impact family planning.
Why Can Genetic Testing Be Recommended During Fertility Treatment?
Genetic testing is often recommended during fertility treatment to assess potential hereditary or genetic conditions that could affect an embryo's health or the likelihood of a successful pregnancy. In many cases, there's no known family history of genetic conditions so the only way to learn about these potential risks is by testing. Genetic testing can help ensure that any potential issues are identified early, allowing patients to make more informed choices.
There are two main types of genetic tests commonly recommended prior to pregnancy:
Genetic Carrier Screening
Carrier screening is a blood test that determines if someone is a carrier of a genetic condition they could pass on to their child. Carriers are usually healthy and don't display symptoms of the condition, so it is often a surprise to learn about this potential risk. If both partners are carriers of the same genetic condition, there's a 25% chance their child could inherit the condition. If a couple discovers that they are both carriers, additional testing options, like preimplantation genetic testing for monogenic disorders (PGT-M), can be done on embryos. There are some conditions where if the female partner is a carrier, then there is a 50% chance of a child inheriting a genetic change (called X-linked conditions)
Preimplantation Genetic Testing (PGT)
This type of testing is performed on a biopsy from the embryo itself and can provide important information. The most common type, preimplantation genetic testing for aneuploidy (PGT-A), screens for aneuploidy, which is the presence of an abnormal number of chromosomes. Certain chromosomal abnormalities can increase the chance of miscarriage or other complication, so identifying them early can help guide treatment decisions. Other types of PGT, such as PGT-M, are available for specific genetic conditions, especially if there is a family history.
Benefits and Considerations of Genetic Testing
Genetic Testing offers several benefits, but it also comes with some things to consider. A genetic counselor can help you weigh these factors and determine whether genetic testing aligns with your needs and goals. A lot of times, a person's personal experience and perspective can heavily influence their decisions when it comes to testing, including what information you are seeking and comfort level with what is unknown.
Benefits:
Insights into Potential Risks: Genetic testing can provide valuable information about risks and may allow for further testing options, such as PGT-M or early diagnostic procedures during pregnancy.
Empowerment to Make Informed Decisions: With this information, patients can make decisions that align with their family planning goals and prepare accordingly.
Preparation for Future Steps: Knowing potential genetic risks ahead of time can provide families with additional time to gather resources and information if a condition is detected.
Considerations:
Uncertainty and Anxiety: Some tests may yield inconclusive results, which can be frustrating and increase anxiety.
Complex Decision-Making: Genetic testing results can complicate the decision of which embryo to transfer. The more information available, the harder it can sometimes be to make these important choices.
Financial Costs: Genetic testing can be expensive and not all insurance plans cover it. It is important to understand the financial commitment when considering genetic testing.
How Genetic Counselors Help Patients Understand Results
Genetic testing results can sometimes be complex or unexpected, and genetic counselors are uniquely trained to interpret these results. By discussing what each test can and cannot detect, counselors help manage expectations upfront. When reviewing results, a genetic counselor will go over what the test was designed to identify, what the results mean, and if any follow-up testing is necessary. In cases of unexpected findings, they're there to provide emotional support and help patients navigate the next steps.
A Personal Approach to Genetic Counseling at FiND Genetics
FiND Genetics was founded by Ushta Davar Canteenwalla, MS, LCGC, a genetic counselor with nearly 20 years of experience. Patients benefit from a supportive, approachable environment where they can get expert information tailored to their needs. Ushta founded FiND genetics with a mission to make genetic counseling more accessible, less intimidating, and as comfortable as possible. Whether through video or telephone consultations, patients can connect with a counselor from the comfort of their home, ensuring they feel fully supported throughout their journey.
If you are considering genetic counseling or want to learn more, reach out at https://www.findgenetics.com/ to schedule an appointment or connect through Instagram (@findgenetics) or email at info@findgenetics.com.
Genetic counseling can be a powerful resource, helping you approach family planning with confidence, clarity, and the support you deserve.
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