My meetings occur behind closed doors, sometimes at a table in a carpeted room, other times clustered in an imaginary circle in an exam room, chairs scraping against linoleum as we get into position. I may meet with a woman or a man in attendance on her or his own, or together as a couple coming in on a morning off of work. Depending on the situation, additional family members, including children, are present. Babies may cry and need nursing, children may scribble on coloring book pages using brand new crayons they were given at check in. Midway through our talk when the novelty of those pages has decreased and their travel container of Cheerios has been emptied, a parent hands over his cell phone as a desperate last resort at entertainment.
I flip through pictures and diagrams in a binder, explaining a new concept with each turn of the page. Chromosomes. Genes. Inheritance. I review their family history and draw a pedigree, circles and squares representing the women and men they see at Thanksgiving and family reunions, and with lines connecting them to signify their biologic relationships, which from a social standpoint range from healthy and supportive to contentious and estranged, and everything in between. We talk about the reason they have come to see a genetic counselor and the risk for a genetic change to be contributing to their health or affecting their current or future pregnancy. We then discuss options that may exist for screening or testing and whether or not this is something they wish to pursue further. Some of the information may have been unexpected, with estimated risks being higher or lower than what they had anticipated. I try to assess their feelings, any ambivalent thoughts, and their level of comprehension. We review if other family members should be informed, and what the next steps could be. They leave with a plan.
My role as a genetic counselor has spanned a few different specialties over the past decade. When I was brand new and first starting out, I provided prenatal genetic counseling to couples currently pregnant or hoping to become pregnant (any many using assisted reproductive technologies to achieve this). We discussed the couple’s risk to have a pregnancy affected with a chromosome abnormality or a genetic disorder due to several factors, including their genetic carrier status, age, or ultrasound screening. I then worked for over five years in a pediatric genetics setting, which involved assisting in the genetics evaluations of babies and children with multiple medical issues, developmental differences, or other physical features that were suggestive of a genetic condition. More recently, I have been in a pediatric cancer risk clinic, meeting with families who may have an underlying genetic alteration that predisposes their children or other relatives to the development of cancer and for which increased cancer screening can be implemented.
Everyone who seeks out genetic counseling has evolved from a very unique place, a complex construct of family dynamics, education levels, cultures, languages, and personal beliefs and values. How we consider reproductive options depends upon many of these factors (and others, including financial considerations, though I wish that wasn’t the case for so many families out there).
We know so much more today than we did in the past, and through modern health care technologies we can manipulate and remove and create in ways we never could before. Scientific advancements have led us to a much greater understanding of where we stand in our chances of starting a healthy family, through routine genetic carrier screening (optimally being done prior to becoming pregnant), prenatal screening for chromosome abnormalities and open neural tube defects, and assisted reproductive technologies, including pre-implantation genetic diagnosis (PGD), for those couples struggling with infertility or at risk of transmitting a non-working gene copy to their offspring.
Even with all of this, we are still looking out into the unknown when we venture down the path to start our own families. To conceive and create a peaceful pregnancy where our babies can develop and be delivered into our arms without the need for fertility treatments, additional ultrasounds, or meetings with specialists is thankfully what happens in the majority of the general population. Yet issues can arise, pregnancies can result in miscarriage, babies can be born with birth defects, and children can have delays in reaching their developmental milestones. Despite our best intentions and wishes, these things can happen.
My own doctor reminded me that the healthy, boisterous children running around at the neighborhood playground represent what is typical for children in this world. Researching genetic disorders or focusing on prenatal screening can sometimes make one feel like complicated pregnancies are more common than uneventful ones. If you and your partner have decided you are ready to start your family or if you are already pregnant, most likely you will also have a child running around that playground one day in the future.
While all these children make up the norm, how does that playground look to the couple struggling with infertility or pregnancy loss? How does the energy from those running legs and bellowing sing-song voices seem to the parents of the child born with a progressive neurologic disorder? I’ve spoken with families about risks, in fact it comes up in almost every initial conversation I have with a family. Numbers of risk, be it 1 in 50 or 1 in 200 or 1 in 10,000, and regardless of whether it regards the chance for a pregnancy to have a chromosome abnormality or for a child to develop a serious medical condition or cancer, will always feel different to the couple who has had the experience of being the “one.” Those playgrounds can look very different.
Accepting and learning to adjust to what is our new normal is an integral part of the complex process of having a family. Though we can never predict what our parenting experience will be, we love our children and the idea of our children from the moment their possibility originated in our minds. To have children is to pass on hopes and dreams, the lessons from our past mistakes, and our aspirations that we may have never realized for ourselves. Despite this yearning and willingness to go to the end of the earth and back, we remain dependent on biology, molecular pathways, and cellular interactions that have little to do with our capabilities to nurture and love. For the couple dealing with infertility or reproductive genetic risks, the journey to that child on the playground may not be what they had envisioned.
We try to create favorable conditions that align with our intentions to start a family, and yet a line is drawn between what we can and cannot control. Genetic counselors help families understand and navigate this division. Genetic counseling can be useful to individuals and couples interested in knowing how their own medical and family histories may impact their reproductive or personal health risks, and if any options exist that may modify these risks. Meeting with a genetic counselor does not mean you will automatically be signed up for genetic testing or will have to make decisions right on the spot- these are in fact very common misconceptions of what happens during a genetic counseling session. Genetic counseling is simply a conversation, a method of obtaining more information that you can use in a way that is most appropriate for you and your family. Talk with your doctor if you are interested in meeting with a genetic counselor, or go to the website for the National Society of Genetic Counselors (www.nsgc.org) to find a genetic counselor near you.
Written by Lindsay Rhodes, MS, CGC
Lindsay learned about the field of genetic counseling in high school and felt it fit her combined interests of science and social studies. She attended the University of Michigan genetic counseling program and completed her master’s thesis on the healthcare experiences of parents who received the prenatal diagnosis of trisomy 18. Lindsay has worked in several areas of genetic counseling since 2006, including reproductive and pediatric genetics, and pediatric hematology/oncology. She lives in Chicago with her husband and two children.