As part of our commitment to provide every patient with the highest standard of health care and the best overall experience, RBA provides genetics services as part of our comprehensive infertility work-up. While most babies are born healthy, some may be at an increased risk for a genetic anomaly due to hereditary diseases, advanced maternal age, environmental exposures, or other factors. Genetics services include: assessment of family history, genetic counseling, population and ethnicity-based carrier screening, preimplantation genetic diagnosis (PGD), and education about prenatal screening and testing options.
What is Genetic Counseling?
A genetic counselor is a uniquely-trained health care professional whose role is to help to make complex genetic information more understandable. Genetic counseling is a process in which patients meet with the genetic counselor and are evaluated for their risk of an inherited or acquired disorder. The purpose of genetic counseling is to help patients understand genetic diseases could affect them and their families, as well as what genetic testing options may be available to provide additional information. The main goal of genetic counseling is to help patients to make an informed decision about what is right for them in their particular medical situation.
Genetic counseling is commonly helpful for individuals who:
- Have a personal or family history of a known genetic condition
- Have a personal or family history of a known genetic condition
- Have a personal or family history of a congenital birth defect
- Are of advanced maternal age (≥ 35) at the time of delivery
- Have had two or more pregnancy losses or stillbirths
- Are interested in pursuing PGD
- Have abnormal results from a screening test, or have questions about carrier screening
- Have questions about the genetic risks associated with fertility treatment
- Have questions about prenatal testing options
What happens when I meet with the Genetic Counselor?
When you meet with the genetic counselor, she will ask questions about your medical and family history. If you have medical records or test results pertaining to a genetic condition, please bring them to your genetics consultation. For individuals or families at increased risk for a genetic disorder, the genetic counselor can further advise them of the nature and consequences of the specific disorder, the probability of developing the disorder or passing it on to their offspring, and the available options they may have for further testing. Depending on your ethnicity, certain DNA tests may be recommended prior to beginning your reproductive treatment. The genetic counselor will review the conditions being tested for, as well as the benefits and limitations of the testing results.
Genetic testing is a personal decision, and no one else can determine how much testing may or may not be right for you. The genetic counselor will present all of the available options so that you are informed, but you will not be told what to do, and the decision always rests with you. At RBA, most genetic testing involves a simple blood test.
The Good Start Genetics Carrier Screening panel
RBA now offers all patients genetic screening with the Good Start Genetics carrier screening panel, a simple blood test used to determine whether individuals carry certain mutations for over 20 different genetic conditions. This represents a major advance in genetic carrier screening, as it is more comprehensive and has a higher accuracy rate than many standardly-used carrier screening rests for cystic fibrosis, sickle cell disease, and Ashkenazi Jewish diseases. At the same time, it is considerably less expensive than running all these tests individually.
In most cases, if an individual is found to be a carrier of a certain condition, there are no adverse effects on his/her personal health. However, if both parents are carriers of the same condition, their children will have a significant risk of being affected with the specific genetic disease. In the event that carrier testing reveals both parents to be carriers, RBA offers PGD (see below) as an option to minimize the likelihood of having a child with the genetic condition. It is important to note a negative carrier screening test reduces, but does not completely eliminate, the possibility that an individual is a carrier of a genetic disease.
Some common conditions included in the carrier screening panel include, but are not limited to: Cystic Fibrosis, Sickle Cell disease, Beta Thalassemia, Fragile X syndrome, Spinal Muscular Atrophy and Tay-Sachs disease. Patients may schedule an appoitment to further discuss this testing with RBA's genetic counselor.
Preimplantation Genetic Diagnosis (PGD)
PGD is a technology that can be performed as part of the IVF process. PGD allows the selection and transfer of unaffected (chromosomally normal) embryos which may result in a higher implantation rate per embryo, a reduction in pregnancy loss, and the birth of a higher number of healthy babies. For additional information, please see the PGD tab on our website.
If you have specific questions about which genetic services may be appropriate for your specific situation, feel free to call our genetics hotline at 404.459.3650. Leave a message with your contact information and our genetic counselor will return your call within 1 business day.
Genetic Counselor: Jamie Dokson, ScM, CGC
Jamie is a certified genetic counselor with clinical experience and significant expertise in prenatal genetics, pediatric genetics, cancer genetics, and genetic issues related to infertility. She received her B.A. from Brown University, and her M.S. in Genetic Counseling from Johns Hopkins University. She is board certified in Genetic Counseling by the American Board of Genetic Counselors (ABGC).
At RBA, Jamie provides counseling for couples with a range of fertility problems, concerns about medical or family history, and advanced maternal age. She also meets with couples considering undergoing Preimplantation Genetic Diagnosis (PGD) and with all potential egg and embryo donors. Through her experience and training, Jamie has experience in helping patients understand complex genetic information. In this way, she helps enable couples to make the most informed reproductive decisions.
Jamie has been an active member of the National Society of Genetic Counselors (NSGC) since 2004, and is a member of the Assisted Reproductive Technologies/Infertility Special Interest Group. Jamie is also a member of the American Society for Reproductive Medicine (ASRM).