The genetic boom of the past few decades has generated increasingly complex areas of research, as well as ethical dilemmas related to how we use our newfound knowledge of the human genome. One very important aspect of this is to ensure patients thoroughly understand how genetics are driving their illnesses and what treatment and counseling options are available to them. Heather Zierhut, an assistant professor in the Department of Genetics, Cell Biology, and Development, trains future genetic counselors and researches the outcomes and effectiveness of the counseling methods currently in use.
As an undergrad, I worked in a variety of different laboratories, and I loved the research component of it, but the bench wasn’t for me. I found genetic counseling and it was a light bulb moment—one of those points when you find what you’re meant to do and it just feels right. I did a bunch of research on the field. It combined my desire to think about and ask questions regarding science as well as my interest in working in clinical care.
The Reciprocal Engagement Model of practice is a way of thinking about what we do as genetic counselors and how we work with our patients and their families. As in the name of the model, it’s a reciprocal conversation, so we both learn from our patients and their experiences and they learn from us. We’re engaged with our patients, helping them make medical decisions, helping facilitate their care, getting them the best medical management possible based upon their genes. This model was created by Bonnie LeRoy, Pat McCarthy Veach and Dianne Bartels, who are researchers here at the University of Minnesota. We were using that model to try to understand outcomes of genetic counseling and to better elucidate what we do as genetic counselors and how that impacts our patients and their families.
Genetic counselors bring expertise not only in genetics, but also in the ethics, public policy and psychosocial implications of the work. In a research environment, thinking about what happens beyond the bench is really important. Genetic counselors are also trained to communicate complex information to research participants. They think a lot about how we get informed consent, how we ensure that people who want to participate in research understand what they’re participating in and how that research can affect themselves and the greater population. Genetic counselors can also work in laboratories and help to communicate information to other people within the lab or to health care providers that facilitate testing. Genetic counselors are really a bridge to communicate complicated information to people who may not have all of the knowledge, tools or resources at their fingertips.
There are now universal carrier screenings, which means that people considering having children have the ability to look at genes that might not affect their health, but could be passed on to their children. There are a lot of genetic testing companies out there that can screen for genetic variants. Traditionally, couples could be screened for things that were common in certain ethnic backgrounds, so it was very specific, targeted genetic testing. Now there is screening for more common genetic conditions across populations like cystic fibrosis or spinal muscular atrophy which are readily available.
Genetic counselors are used to sitting in the area of complex ethical issues that arise. In my previous work here at the University of Minnesota, a technology called Pre-Implantation Genetic Diagnosis (PGD), was first used to diagnose a rare genetic disease called Fanconi anemia and subsequently for human leukocyte antigen (HLA) genotyping. PGD gave families the ability to select embryos that were both disease-free and a match for a sibling that was dying of this disease. So we are quite used to talking with families about uses of genetic testing that brings up complex issues. What I think is different about genetic engineering is that now scientists have the ability to not only select, but also to change the genome. In this case there is a level of manipulation that’s happening—changing vs. selecting. The implication is that those changes could be passed on through generations upon generations, and we don’t necessarily know what all the effects are from what we’ve changed in the genome. This is an area that we’ve never gotten to before and it raises many ethical issues that are very similar to the ones we’ve talked about when examining PGD and the use of gene therapy.
I think that the $100 genome is not too far away. The ability to look at entire genomes in large numbers of people is quickly on the horizon. From that, we can look at huge amounts of data to try to understand how diseases happen and how they specifically happen in each person. That’s a pretty amazing frontier. We may see a lot of people who choose to know or not to know about certain things that are going to happen in their future. It will be an interesting collision when we have this ability to predict but also a choice not to know. How are people going to choose to use that information in their individual lives? What is the timing? Is this something we learn at adulthood? Is this something that we learn only when it’s necessary to look at the genome, when say a disease arises? Or is this something that everybody has as a baby or at pregnancy or even preconception? There are a lot of questions and unknowns, which is why I research and try to understand how people want to use genetic information and how it impacts their daily lives.
I like to travel. I love experiencing new foods and different cultures, which go hand in hand with travel. I also very much love modern art, the stranger and crazier, the better. I’m a member of the Guthrie Theater, as well as the Minnesota Opera so, as you can see, I like the arts! Seeing unconventional art challenges me to think about my own perspective and learn about different perspectives along the way. It’s enlightening and fun.
That’s so tough. A place I keep going back to is Barcelona, Spain. I love the architecture (Gaudi), art (Picasso) and the tapas culture with really cheap good wine; it’s fabulous. One of the places that surprised me was Budapest. I really loved that city. It has a great vibe. It’s a pretty, walkable, open city with such history.
I love the University of Minnesota. I got my master’s degree here, I got my doctoral degree here, and now I’m a faculty member, so clearly I like a lot of things about the University of Minnesota! One of the things that drew me here is the collaborative spirit. I feel very supported by my colleagues. I am inspired by the research they’re doing and the ways that it could impact my own research. It helps to move us all forward, so I appreciate the collaborations and the mentorships that exist here, as well as the diversity of things that are happening. Working on efforts that integrate the business school, public health, pharmacy and genetics, it’s amazing how you can learn and think about things differently when you have colleagues from many different areas coming together.
I’ve been reading a lot of genetic engineering articles to prepare for the Petri Dish! I was reading a paper on people’s perspectives on genetic engineering and how people differentiate disease risk vs. things like different traits. It’s interesting how people may be open to genetic engineering for diseases, but not necessarily for other types of traits. I also read A Man Called Ove, a novel about a man who appears to have a very negative outlook on life and his neighbors. But you gradually come to understand him and his story and what’s underneath his façade. That was a great read that made the point that it’s important to know what’s going on underneath the top layer that people project. I try to remember this in my work as a genetic counselor. We must find what is underneath the top layer to help people understand their genetics and what that information means specific to their lives, which are complicated like Ove’s.
— Sarah Huebner