If you are living with, or are a descendent of someone diagnosed with an Inherited Retinal Disease (IRD), understanding your genetic makeup and family health history can be an integral part of planning and navigating each stage of life. Colorado Retina’s on-site, Certified Genetic Counselor, Rebecca Nelson works closely with our IRD specialist, Dr. Alan Kimura, to collect your family tree health records to help determine how genetic conditions might affect you and your family. Genetic Counseling can be helpful in preparing for and during pregnancy, addressing concerns for a child showing signs of an IRD, and help manage your health when it comes to specialty areas such as eye care, cardiovascular, psychiatric, and cancer. During your genetic counseling session, Rebecca will interpret and communicate your provided medical information, cover the potential outcomes, risks, benefits, and limitations of genetic testing, curate a genetic testing plan that best meets your needs and goals, and review the current regulations around privacy of genetic information and testing. It’s important for all patients to understand, as testing can provide amble potential benefits, there is an the emotional impact. Information reveled from testing may be frustrating, confusing, inconclusive, and life altering. As a counselor, Rebecca’s goal is to help you understand your options, manage emotions, and ensure you feel prepared to make an independent, informed decision if genetic testing is right for you and your loved ones.
Inherited Retinal Degenerative Diseases are rare, inherited and usually caused by one or more mutations in a single gene within a person. Genetic testing attempts to identify the mutated gene causing the IRD in an individual or family. You must complete a few steps prior to engaging in testing. First you must undergo a thorough retinal and clinical examination conducted by an inherited retinal disease specialist, thankfully we have a highly quailed one on staff! After your consultation, your exam notes will be shared with our genetic counselor to again, help you better understand the benefits, limitations, and potential implications of genetic testing. Genetic counseling is not technically required as a testing prerequisite, however we do strongly urge it, as counseling is critical part of the genetic testing process. You must indicate informed consent before proceeding with testing. Once consent is confirmed, a genetic testing kit will be ordered by your counselor or physician. Depending on your condition, this kit will instruct collection of either a sample of your blood or saliva. The sample is then sent out for testing to a CLIA-certified lab, one that meets very specific quality control criteria outlined by the Centers for Medicare & Medicaid Services (CMS). It may take several months for results to come back from the lab.
Results will be sent directly to our clinic, and reviewed by your genetic counselor and physician before you are called in to review results. Results can go two ways, they can be conclusive or inconclusive. If inconclusive, that may indicate the gene causing the genetic mutation was not found and the diagnosis for the IRD remains unknown. Inconclusive results be caused by various factors. For example, some genes associated with IRDs have yet to be discovered or there was a phenotypic overlap present. If you receive a conclusive test that has identified your mutated gene, your counselor should be able to confirm or refine your retinal diagnosis and explain how the disease may change and affect your vision throughout your lifespan. Knowing the mutated gene can also guide testing of family members to identify those at risk of inheriting the condition, which is also very helpful in family planning. Conclusive results help in the qualification for enrolling IRD clinical trials and identify future therapies that may be available to you as treatment options. Conclusive results do not automatically qualify you for a clinical trial or therapy, but it’s a great kickstart into the qualification process.
Regardless of whether your gene mutation is found, Rebecca will help you understand your individual results and work with your physician to recommend next steps for your care. In some cases, re-testing may be an option. As for the cost of testing, it can vary with your insurance carrier and presented disease. Your counselor can work with your insurance carrier to help you understand payment and coverage options. Colorado Retina partners with the Foundation Fighting Blindness to offer coverage assistance and potential grants to all of our patients.
Who Benefit’s From Genetic Counseling and/or Testing:
- Have a family history of an IRD and would like to know your risk or your children’s risk.
- Were recently diagnosed with an IRD, or your healthcare provider is seeking to assess if you have an undiagnosed condition that may be genetic.
- Have a child or family member recently diagnosed with an IRD.
- Are planning to get pregnant or are having difficulty getting pregnant.
- Have received abnormal results from a routine pregnancy screening.
- Have a child showing signs and symptoms of an IRD.
About Our Genetic Counselor, Rebecca Nelson, CGCRebecca Nelson first learned about genetic counseling from her ninth-grade biology teacher. Before this moment, she had wanted to be a middle school music teacher or a Broadway star. However, there was no going back after that fateful genetics unit on pea plants, Punnett squares, and family trees. Rebecca enjoys how genetic counseling focuses on the past, present, and future; what can we learn from the medical and family histories, how can we help the patient right now, and does this information inform future plans or decisions?
Rebecca received her bachelor’s in biology and psychology at Bucknell University in Lewisburg, PA, and her master’s in genetic counseling from Case Western Reserve University in Cleveland, OH. She previously was the lead genetic counselor at Parkview Cancer Institute in Fort Wayne, IN. Rebecca moved back home in 2021 to become Colorado Retina’s first genetic counselor. This career change was motivated by the influx of gene therapies in inherited retinal diseases. Now more than ever, we have the chance to fight blindness. Genetic testing and counseling are critical components of getting people experimental or FDA-approved treatments. Rebecca is also keen to elevate mental health awareness and services in the low vision and blind communities. When not at work, Rebecca may be found tending to her house plants, checking out too many books from the library, or singing with the Denver Rock Orchestra. Rebecca primarily works at Colorado Retina’s Lakewood clinic, which is conveniently located 3 miles away from the biology classroom that started it all.