How Genetic Counseling Can Make a Positive Difference for You

Hello!  I am happy to be able to introduce myself: my name is Marisa Andrews, and I am a certified genetic counselor. I recently joined the Fertility & Reproductive Medicine Center, and I am so pleased to be a part of this incredible team.

All of us, patients and healthcare providers alike, are excited by the rapid progress in the field of medical genetics.  Genetic information has enormous potential to improve our health outcomes, including within the world of reproductive medicine.  Yet as genetic testing becomes a more common part of healthcare and the complexity of testing increases, we face an important challenge.  How do we ensure patients and providers understand their genetic testing options and the results they may uncover?

This is where a certified genetic counselor can be helpful. As the National Society of Genetic Counselors explains, “genetic counselors have advanced training in medical genetics and counseling to guide and support patients seeking more information about how inherited diseases and conditions might affect them or their families, and to interpret test results.” The goal of genetic counseling is to provide accurate and up-to-date information and to support your decision-making process so you can make the choices that are best for you and your family.

In the Fertility & Reproductive Medicine Center, I see patient for many different reasons.  Before I talk about genetic testing related to fertility and pregnancy, however, it is very important to say most babies are healthy!  Most genetic conditions are rare.  Yet for those whose lives are touched by a genetic condition in themselves or a family member, understanding and adapting to the diagnosis can be challenging and emotional.  Genetic counselors can help guide patients through that process.

You may already be aware of some types of genetic testing offered to patients who are planning a pregnancy such as genetic carrier screening.  Genetic carrier screening can help identify patients who are at increased risk to have a child with a genetic condition, such as cystic fibrosis, due to a variant in one of their genes.  Carriers are typically healthy and do not have any symptoms of the condition themselves.  In most cases, they also have no family history of that condition.  This is one example of why genetic counseling is beneficial for all patients planning a pregnancy, not just those with a family history of a genetic condition.

Patients may also be referred to discuss whether or not genetic testing could help explain why a health issue has occurred in themselves or their family members.  Common examples include a history of two or more miscarriages, intellectual disability, or deafness.  If genetic testing does identify a cause, the results may provide important information for the affected individual’s medical care such as prognosis or treatment options.  Additionally, the results may help you understand how likely it is your own children could have the same condition. 

Patients who know they have an increased chance to have a child with a genetic condition often see me to discuss their options to prevent the condition from being passed on.  One exciting option is preimplantation genetic testing, which is used to identify genetic abnormalities in embryos created with in vitro fertilization (IVF).  This test gives patients the opportunity to greatly reduce the risk of a genetic condition in their child prior to pregnancy.

As much as I believe in the power of genetic testing to improve lives, it is equally important to recognize not every patient wants this type of information.  For some patients, genetic testing and the information it provides might cause anxiety they would rather avoid.  Other patients know the results would not change their family-building plans.  For instance, they would not choose to test their embryos or a pregnancy even if they knew their child was at risk for a genetic condition.  It is essential we respect a patient’s “right not to know” genetic information about themselves.

There are more options for genetic testing now than ever before.  While all genetic tests have potential benefits, it is just as important to understand their limitations.  By discussing your options with a genetic counselor, you will learn whether a genetic test can really provide the answers you want.  With genetic counseling, you can be assured you have the knowledge and support you need to make genetic testing work for you.

Do you have questions about your family history?  Are you wondering whether a genetic test is right for you?  Would you like to discuss your genetic test results to better understand their meaning?  If so, I would be happy to meet with you.  To request an appointment, please contact our office at (314) 286-2400.