Nutritional Genomics: A New Landscape for Genetic Counseling? - Victoria Kostour

 

During my time as an undergraduate, I had many different interests that I was not sure I could integrate into one career. However, genetic counseling continued to appeal to me because of the opportunity to create new roles in a variety of healthcare areas. Although most are familiar with the few core specialties (prenatal, cancer, and pediatrics), I was surprised to learn about opportunities in disciplines like cardiology, neurology, industry, and ophthalmology. Something that particularly caught my attention was the development of nutritional genomics.

Nutritional genomics has two main branches: nutrigenetics and nutrigenomics. Nutrigenetics is a field that explores how our bodies respond to what we consume. Understanding these genetic impacts may help practitioners recommend specific workouts and supplements to clients. On the other hand, nutrigenomics describes how what we consume impacts gene expression. During my undergraduate career, I participated in nutrigenomic research that investigated how dietary bioactives can impact gene expression that play important roles in various metabolism pathways. I was fascinated by how the food we consume has the potential to change our genetic ecosystem.

In a NSGC Genetic Counselors and You Podcast episode titled “My Nutrition, My Genes,” registered dietician nutritionist Jill West described her experiences using genetic testing to adjust diet and maximize prevention strategies. For example, she shared that genetic testing can be used to understand how patients metabolize caffeine and sodium. If someone’s genetic testing reveals they are a slow metabolizer of these compounds, they may want to limit their consumption, as it poses a larger risk for heart disease for this individual as compared to someone who doesn’t have a genetically based sensitivity.

More recently, the DNA Today podcast hosted an episode with Dr. Yael Joffe, the founder of the company 3X4 Genetics. Her company allows healthcare providers to access genetic testing to inform diet and exercise plans for their patients. Dr. Joffe is passionate about educating practitioners about genetics so they could integrate testing and polygenic risk scores to work with individuals to change their daily lives. In this episode, she clarifies how her company differs from traditional medical genetics by studying “common gene changes … [that] do not cause disease. [These changes] interact with the choices we make in our life: the food we eat, the exercise we do, and therefore give us some control on how our genes express themselves for our lives.” She emphasized how, to get the most value from genes, there needs to be a population of healthcare providers trained in interpreting genetics.

More than 26 million individuals have done direct-to-consumer genetic testing (DTC-GT). According to research by Roosan et al. (2023), there are currently eighteen commercial laboratories in the United States and Europe offering DTC-GT. These companies promise information about personalized recommendations from diets, exercise performance, and fertility optimization. Some DTC-GT can be physician-mediated, meaning practitioners order testing kits from these companies for patients in their practice. While some DTC-GT base their results on monogenic gene changes, others base their results on RNA studies or polygenic risk scores. However, it can sometimes be difficult to know exactly where companies are extracting evidence from to provide health information.

There are many studies that show associations between specific genetic changes and different metabolism effects in individuals. Yet, the main question continues to be whether genetic testing can truly be a catalyst for individuals’ behavior change in relation to health. The hope is that if individuals learn more about their own bodies and get more personalized recommendations, then they will be willing to comply in the long-term with health-promoting behaviors. Even though there is an increased consumer interest in pursuing genetic testing for personalized recommendations, there is still no consensus on the evidence of nutritional genomic testing.

The Academy of Nutrition and Dietetics performed a two-part systematic review in 2021 (Robinson et al.). They looked at 10 articles describing randomized, controlled trials that looked at the impacts of using genetic testing for nutrition counseling. These trials analyzed a variety of nutritional measures from macronutrient distribution to fruit and vegetable intake. The only significant changes were seen with high-risk variant carriers, who were more likely than low-risk gene variant carriers to reduce their intake of sodium and alcohol in response to genetic results (Hendershot et al., Nielsen et al.). In all other studies, there were no significant differences in dietary intake of those that received nutrition-based genetic counseling compared to a control group. Therefore, the Academy concluded that there is insufficient evidence to suggest significant effects of nutrition-based genetic testing and it is not yet ready to be routinely incorporated into dietetics practices. Previous studies also found no changes in behavioral modifications in response to DTC-GT results of condition susceptibility (Bloss et al., Gray et al.).

It’s important to keep in mind that there are many lifestyle changes that people can make to improve health with genetic testing. Genetic advice may help motivate some but may only be more significant than common advice for sub-populations of people who respond to environmental factors uniquely. However, we can also appreciate that this field is very young and gene-lifestyle interactions for polygenic traits need to be further investigated so we can determine if nutrition-based genetic testing can be translated into clinical recommendations and public health initiatives.

From a quick Google search, you can find PhD programs in Nutrigenomics from institutions like University of the Balearic Islands and University of Cape Town. Besides these specialized programs, many dietetic programs do not have coursework in genetics. While individuals, like Dr. Yael Joffe, have tried to respond to these gaps in genetic education, I am interested if there is also a space for genetic counselors. Roosan et al. (2023), conducted a systematic literature review on nutrigenomics counseling and identified that interested practitioners report lacking genetic counseling skills and opportunities to integrate them in clinical practice. Genetic counselors may be best trained to interpret nutritional genetic testing results and help clients adopt personalized plans. Genetic counselors already have roles with psychiatric genetic counseling, which similarly conveys information about multifactorial conditions and potential management strategies.

It’s exciting to me to think that genetic counselors can continue to have new roles within and beyond the healthcare system. While the effectiveness of clinically used nutritional-based genetic testing still seems uncertain, we cannot deny that this field has a future. Genetic tests have already been used by healthcare providers to inform health interventions. The question remains to what extent this service will be beneficial to public health and clinical practice. Do you feel nutrigenomics has a basis for growth? Do genetic counselors have a responsibility to support and be involved in the development of this field?

Resources:

Dineen, K. (Host). (2022, May). #185 Nutrigenomics with Yael Joffe. [Audio podcast]. Retrieved from https://www.youtube.com/watch?v=7SABJeGUwVQ

Guasch-Ferré, M., Dashti, H. S., & Merino, J. (2018). Nutritional Genomics and Direct-to-Consumer Genetic Testing: An Overview. Advances in nutrition (Bethesda, Md.), 9(2), 128–135. https://doi.org/10.1093/advances/nmy001

Hendershot, C. S., Otto, J. M., Collins, S. E., Liang, T., & Wall, T. L. (2010). Evaluation of a brief web-based genetic feedback intervention for reducing alcohol-related health risks associated with ALDH2. Annals of behavioral medicine : a publication of the Society of Behavioral Medicine, 40(1), 77–88. https://doi.org/10.1007/s12160-010-9207-3

Nielsen, D. E., & El-Sohemy, A. (2014). Disclosure of genetic information and change in dietary intake: a randomized controlled trial. PloS one, 9(11), e112665. https://doi.org/10.1371/journal.pone.0112665

Regalado A. More than 26 million people have taken an at-home ancestry test. MIT Technology Review. https://www. technologyreview.com/s/612880/morethan-26-million-people-have-taken-an-athome-ancestry-test/. Published February 11, 2019. Accessed July 10, 2023.

Robinson, K., Rozga, M., Braakhuis, A., Ellis, A., Monnard, C. R., Sinley, R., Wanner, A., & Vargas, A. J. (2021). Effect of Incorporating Genetic Testing Results into Nutrition Counseling and Care on Dietary Intake: An Evidence Analysis Center Systematic Review-Part I. Journal of the Academy of Nutrition and Dietetics, 121(3), 553–581.e3. https://doi.org/10.1016/j.jand.2020.04.001

Roosan, D., Wu, Y., Tran, M., Huang, Y., Baskys, A., & Roosan, M. R. (2023). Opportunities to integrate nutrigenomics into clinical practice and patient counseling. European journal of clinical nutrition, 77(1), 36–44. https://doi.org/10.1038/s41430-022-01146-x

Wong, K. (Host). My Nutrition, My Genes. [Audio podcast]. Retrieved from https://open.spotify.com/episode/2dx96ucyQtT0e9evVyENmD?si=50b9eb41866746f2

One Size Doesn't Fit All: A Discussion on Strategies to Improve Mental Health in the Graduate School Population - Elian Buchi

November 14, 2014 - this is a day that will forever be ingrained in my mind. You see, this day was when my parents, two brothers and I flew from our war-torn homeland in Syria as refugees, to our new home in Pennsylvania. Waving goodbye to everything that had been familiar to me, and hugging everyone that I had known and loved was overwhelming to say the least. I remember that as the airplane tires touched down at Pittsburgh International Airport and we taxied to our gate, I began to have that sensation of a pit in my stomach. I had so much fear of all the new and unknown things coming my way. Leaving the comfort of the stone buildings and working in my family’s restaurant in Syria, driving to our new home, and seeing these large trees, residential neighborhoods was a stark change in my reality. This theme of change was inevitable at that point in my life. Looking back now, I am immensely grateful for the opportunity to be where I am today, yet I would be lying if this did not come with challenges. I would call this the “snow season” of my life because it honestly was a blur. Like the snow screen on a television, I was trying to assimilate into a new culture, a home, and a largely unfamiliar language. In some respects, I think my journey in graduate school can be applied to this. We are constantly learning about the culture of empathic patient centered care, doing so at our new home (The University of Pittsburgh, Go Panthers!) and yes, even learning all new diseases and genetic concepts that can feel like a new language. Through all of these changes, I continued to reflect on myself, finding that I had that pit in my stomach similar to when that plane landed at PIT. Did I know what this sensation of a pit in my stomach was…no. It took intense self-reflection to realize that I was anxious and in fact, burnout as these new expectations that were set before. I truly felt mentally exhausted and overwhelmed, as if one more task would be too much to bear. Trying to master the numerous PowerPoints, understand the brand new concepts, all while building consistent and empathic patient interviewing skills, this took its toll on me both mentally and physically. I found myself sitting in front of my cherrywood desk in my apartment, staring at my computer screen asking myself if this was all worth it?
With my negative self-talk and the toll that this was taking on my health, I knew it was unacceptable, yet I did not know how to fix this myself. As I continue to reflect, I first realized that I did not know what exactly mental health was. Additionally, I did not know how to articulate exactly how I was feeling. Yes, mental health is a term that we all have heard multiple times in presentations and trendy online posts about improving this, but what does it boil down to? What is and isn’t anxiety, burnout, and depression? More importantly, what can I do to help myself get to a state in which I can healthfully operate? In my view, this is not a one size fits all solution. Someone won’t come around, wave their magic wand and deem me cured. I realized that this is going to take work and support from others. What I am going to share is my own personal reflection, and my hope is that this will inspire you to take stock in what is your own mental health with ideas on how to improve this.
As I continue along my period of lifelong self-discovery of my own mental health, I have found that it is important to realize that the solution to positive mental health is not a straight line. There are many hills and valleys that have culminated into my inner strength and desire to rebuild my positivity and confidence to help get to where I am today. Much like a recipe takes multiple ingredients, trial runs and yes even multiple taste tests before it comes together, I would like to share some of the ingredients that have helped me have a more positive outlook on my own mental health. When I started graduate school, I found myself overwhelmed by the sheer volume of new things. If I am being completely honest with myself and my viewers, I let the fear of the unknown consume me. There would be times that I would sit at my same cherry wood desk with my laptop open, asking myself, “Am I capable of doing this?” This negative self-talk went on for several weeks until my loved ones (mainly my amazing fiancée) realized that I needed help. Through some self-discovery, I decided that I was going to establish boundaries that work for me, so that I am able to set time aside for myself to help achieve a fulfilling life outside of graduate school. I decided that each day, I was going to do something small for myself, something that I personally enjoy and brings a positive point of enjoyment to the day. For me, these include cooking and exercising, as I strongly believe that physical and mental health are interconnected in the intricate web that have helped me get through those hills and valleys. Setting aside forty-five minutes daily to go on a run or taking a walk with my friends, helps me clear my headspace and promote my overall wellness. In regard to my schoolwork, I decided that I would make a manageable to-do list for each day. I also have the expectation that yes, life gets in the way and it is okay not to complete every item, as tomorrow’s to-do list can absorb today’s. Taking the tasks of my day in chewable bites is something that has positively improved my outlook on graduate school overall. Outside of my personal resources, I found it important to look outside of myself for inspiration. I looked at my peers and mentors to lean on during the especially trying times. Having those frank conversations with my cohort and going through the same experiences provides a unique opportunity to support and learn from each other.
In closing, a big picture thought that has helped me on the journey through graduate school has been always reflecting back on my reason “Why?”. Why did I choose to pursue becoming a genetic counselor? In short, I became a genetic counselor to help patients and their families through what will be one of the most difficult and uncertain times in their lives. I have the immense opportunity to be in this country, in a graduate program in a field that I love surrounded by supportive friends and family. I am incredibly grateful for the inner strength that my story has given me. I want to be that person who can sit with a patient and their family to help them truly understand what condition they are diagnosed with and what options there are available. In life, when we are given circumstances that are challenging, I choose to now look at these as opportunities. My reason “Why?” can translate seamlessly into my opportunity for improvement in my own mental health and the health of those around me. The strategies I listed above are the tip of the iceberg, and I hope that they give you inspiration to take stock in how you can improve your own mental and physical health. I encourage each of you to facilitate more discussion that can bring about positive, meaningful change to improve mental health services and reduce the stigma for all. In fact, I urge you to continue fighting the stigma surrounding mental health concerns. In our profession, it is vital that, as genetic counselors, we are best equipped to help our patients and their families find the best solution to an oftentimes challenging diagnosis. To do this with the highest efficacy and empathy, we must first take care of ourselves. After all, the field of medicine is not a one size fits all domain, so our own mental and physical health shouldn’t be either.

With A Little Help From My Friends: My Interdisciplinary Student Experience at Pitt - Saad Akhtar

One of my favorite aspects of being a genetic counseling student here at Pitt is being under the umbrella of the School of Public Health and getting to interact with students and professors in the many other programs offered here. As I started my time at Pitt as an MPH student and later transitioning into the dual degree program, I had no idea how invaluable having this access to other disciplines would be. It has not only broadened my perspective of different health issues that affect patients beyond the clinic but has also made me appreciate the different roles that other students and professionals have in ensuring the best health outcomes for patients. I know this will be especially important as I begin my rotations, as I have seen from my prior support roles how often genetic counselors interact with other medical professionals in our profession and how vital it is to learn to work with others outside of our field.

As a dual degree student, how our work as genetic counselors falls into the broader scope of Public Health is constantly on my mind. In my first year at Pitt prior to officially joining the genetic counseling program, I had the benefit of taking several classes that focused on aspects of health outside the clinical and research spaces we tend to associate it with. Two of these courses, Social and Behavioral Sciences in Public Health and Introduction to Community Health, particularly have had an impact on me and my time here as a student. Social and Behavioral Health Sciences focused on issues of health equity and access, which have always been a passion of mine. But, it also taught me about the importance of qualitative research and how the experiences of people and patients can be just as vital as the statistics and numbers that can represent them in studies. This is extremely relevant to genetic counseling, as the psychosocial aspect of genetic testing and the implications it can have on our patients' lives is the basis of our field. Community Health taught me how to build trust in communities as a medical professional and to think about how health issues can affect people in various ways on a local scale and beyond. In both of these courses, I had a chance to work with public health students studying areas such as Epidemiology, Health Policy and Management, and Behavioral and Community Health Sciences, just to name a few. It opened my eyes to the various ways people in different fields could approach tackling issues we talked about in class and how by working together, we could each bring something unique to the table.

My work in these classes also influenced my practicum experience as part of Bridging the Gaps, which is an internship provided by Pitt. In Bridging the Gaps, students from different fields work together over the summer to join various organizations across the city working to help underserved individuals and communities. As part of my work, I had the pleasure of working with a nursing student at an anti-violence summer camp program for the community of Beltzhoover. Though neither of us had much experience directly working with children or underserved communities, by the end of the summer we both felt like we had learned a lot about working with these individuals, not only from each other but from members of the community of Beltzhoover as well. It is one thing to learn about the social determinants of health in class, but it’s an entirely different experience to see how they affect actual people in communities just twenty minutes from where we study. Besides my own work in Bridging the Gaps, we also got a chance to work with other students studying things such as Social Work, Dentistry, Nursing, and Pharmacy, as well as meet with leaders from organizations doing vital work across the city of Pittsburgh. Many of the people I worked with had very little understanding of genetic counseling as a field, so I had the opportunity to teach others about the work we do in my role while learning from them as well. Through this experience, I have become aware of so many resources and organizations that work to help those in need that I had no knowledge of prior, and I know this knowledge will be useful as a genetic counselor. Part of our job is to be able to direct our patients to resources they need, and as medical professionals, it's our duty to be advocates for our patients. I truly believe our role in our patients’ lives does not begin and end during our time in the clinic with them. Through my experiences, I have a much better idea of how I can address their needs beyond the clinic in the future.

In thinking about interdisciplinary work, I also want to highlight my experience being part of the department of Human Genetics. One thing I love about our department is how, even though our individual focuses can differ from program to program, there is a strong sense of community and uplifting each other’s work. We, of course, have students, professors, and other professionals in our department who primarily focus on genetics research, but we have individuals studying bioinformatics, public health genetics, and of course, genetic counseling as well. As part of our curriculum, we take many of the same courses and get to learn from individuals who are experts in their particular fields. As a result, the way we think about genetics is unique and we see how our work can affect individuals on every level, from a societal perspective all the way down to the molecules that make us who we are.

From my own experience, I can say that making friends in other programs has benefited me enormously as a student. Forming a study group with students in the MS/PhD programs in our Molecular Basis class in my first semester helped me so much as I adjusted to coming back to academia after a long time off. In our statistical methods and bioinformatics courses, having classmates who had prior experience in those fields who I could rely on for help if I needed it was invaluable as well. Some of those classmates have become some of my closest friends here in Pittsburgh and it’s been a true pleasure getting to know them both in and outside the classroom.

If I can end this post with some advice, to any future incoming students or applicants thinking about joining our program, take some inspiration from the Pittsburgh legend Fred Rogers and learn to be a “good neighbor” to those around you. The interdisciplinary community we have developed at Pitt can be your biggest asset in your time here if you’re willing to take advantage of it. Nearly everyone I have had the opportunity to interact with has positively impacted my time here, and I’m deeply grateful to be part of a program that emphasizes collaboration with individuals both in and outside our field.

"If You Knew Everything, You Wouldn't Be Here" - Nicole Weise

Going into graduate school, I knew there was a lot I didn’t know about genetic counseling, and I was eager to get started on my training. Our first semester was inundated with information about Hardy-Weinberg equilibrium, lysosomal storage disorders, and risk assessment (who knew Bayes would not be the hardest part about genetic counseling?). As we finished out the spring semester, the amount of information we’ve absorbed on hereditary cancer predisposition syndromes, genetic testing methodologies, and psychosocial interventions is enough to make one’s head spin. Some days it’s hard to keep up with everything, and even still, I know there is so much more to take in. This is not surprising: we signed up to be lifelong learners.

Despite knowing so little about the actual genetics behind genetic counseling, I thought I had a very good understanding of the basic principles of genetic counseling going into graduate school. Patient autonomy. Non-directiveness. Unconditional positive regard. Self-explanatory, no nuance. Alas, I should have known – it could never be that simple.

On Thursday afternoons from 1:00 – 1:50pm, we had the opportunity to take Ethical Issues in Clinical and Public Health Genetics, taught by Drs. Robin Grubs and Michael Deem. This class challenged my understanding of what I knew to be the basic tenets of genetic counseling. One of our first, and most impactful, lectures was on non-directiveness. Non-directiveness is perhaps one of the main defining features of genetic counseling, born out of the renunciation of eugenics. I had always thought non-directiveness was straightforward: genetic counselors have a duty to provide patients with clear and unbiased information so that patients can make fully informed decisions, free from coercion. As a result, non-directiveness on the part of the genetic counselor promotes patient autonomy and self-directiveness. But in talking about non-directiveness in practice, we were asked: can we take a truly non-directive approach in all situations? If a family does not provide a child with PKU a diet free from phenylalanine, can we remain non-directive? If cascade testing can identify a germline pathogenic variant that increases a person’s cancer risk but the proband does not want to communicate their results to their family, can we remain non-directive? At what point, if ever, should the genetic counselor step in and be even a little bit directive?

In addition to non-directiveness, this course provided us the forum to discuss relevant ethical topics in genetic counseling such as informed consent, duty to disclose, secondary and incidental findings, and consumer-driven genetic testing. I was pleased that we also discussed ethical issues raised by non-invasive prenatal screening (NIPS), a topic that is of personal interest for me. Given the non-invasive nature of NIPS, it may be increasingly seen as a standard part of prenatal care. Some, however, argue that this may diminish the informed consent process and even stigmatize a person’s choice not to pursue NIPS. Additionally, greater access to NIPS raises the possibility that it may result in fewer individuals being born with genetic conditions, and subsequently, fewer resources being invested in their health and equity in society. NIPS, therefore, has the potential to further widen disparities between abled and disabled individuals. How can we as future genetic counselors provide the best care possible for our patients when these ethical implications arise? How can we incorporate our understanding of ethical challenges into practice while maintaining a commitment towards patient autonomy and choice?

The truth is, there is not always a one-size-fits-all answer to such ethical questions. Ethics has a way of challenging our perceptions of what we ought to do, and what we ought not to do. The value of studying ethics is that we consider viewpoints that are not our own and that we recognize that not every dilemma has a right answer. It allows us to set our rigid views of the world aside and consider that things are not always as straightforward as they seem. The study of ethics has a critical role in our training: the field of genetic counseling is rapidly evolving, and we should expect ethical issues to arise and be prepared to face them head on.

Public Health in the Genetic Counseling Space - Megan Zieber

 

Since beginning my career at Pitt Public Health, my appreciation for external influences on health – accessibility, transportation, and built environment – has grown immensely.  The University of Pittsburgh is one of few schools in the country to offer a dual Master of Public Health (MPH) in Public Health Genetics and Master of Science in Genetic Counseling (MSGC) degree.  The MPH gives me a unique perspective when approaching case preparation and patient interactions.  Working directly with individuals in outpatient clinics as well as underserved communities in the greater Pittsburgh area has highlighted gaps in care and sparked ideas of how, as providers, we can work on transdisciplinary teams to close those gaps.  The MPH also exposed me to more disciplines that I may interface with in my career – social work, physical therapy and occupational therapy, as well as environmental and occupational health, to name a few.

As a student currently in the dual degree program, I recognize some of the benefits of pursuing an MPH in addition to my MSGC degree; however, I think there are some things you can only glean from working in the field.  With the innumerable opportunities available to students in genetic counseling and public health programs, I thought it would be helpful to hear from two currently practicing genetic counselors on how their dual degrees (MPH/MSGC) are serving them in their unique careers. 

I spoke with Kerrianne Fry, MS, MPH, CGC and Aishwarya Arjunan, MS, MPH, CGC, CPH, two Pitt MPH/MSGC alumnae.  Kerrianne attended Shippensburg University of Pennsylvania, where she majored in Biology with a Health Sciences concentration and minored in Psychology.  She then attended the University of Pittsburgh, beginning with her MPH in Public Health Genetics and graduating with a dual degree in 2016.  Aishwarya completed her undergraduate education at Case Western Reserve University, majoring in Biology.  She continued on to the University of Pittsburgh to complete her Master of Public Health degree.  After a year at Pitt, she matriculated into the genetic counseling program, graduating with a dual degree in 2013.  Read on to hear about their journeys with the MPH and what they’ve been up to since graduation.

Why did you decide to pursue a dual degree?

Kerrianne: I kind of tripped and stumbled into the dual degree.  I was accepted into the MPH first.  I had applied for both the MS and MPH, but I wasn’t accepted into the MS program my first application cycle.  I decided to continue on the path of the MPH because I knew genetics was where my passion lied.  I reapplied to get into the MS program the next year and was accepted.  I don’t think I fully appreciated the finer aspects of the MPH until I was into my working career, and I recognized what my passions were.  I realized the MPH strongly aligned with who I am – my core values as a person.  I think it marries what I really enjoy and am passionate about.  I always explain it to people that the MS degree is one-on-one conversation, and the MPH is the bridge between the whole population and getting to the one-on-one conversation – the bridge that builds the gap between the general population and how we get them to that individualized care.  So, I’ve always seen them as one integrated program rather than seeing them as two distinctly defined degrees.  I always looked at how I could pull my knowledge base together.

Aishwarya: I think public health was something I became interested in in college.  I was a biology major, but I also took anthropology classes and some sociology classes in which public health would come up in conversation.  Then at the end of senior year [of college], I decided to apply to public health programs.  [Public health] was something I was really interested in, and Pitt was the only one that had a public health degree in genetics.  I was always looking to be in a healthcare space.  I hadn’t heard about genetic counseling until senior year when I was in a developmental biology lab class.  The post doc teaching the class asked if I’d heard of genetic counseling, so I talked to one of the genetic counseling program directors to learn more.  They told me what prerequisites and extracurriculars I needed, like crisis counseling.  It was already into one semester of senior year, so I thought, ‘I’ve already applied to grad programs.  Maybe this isn’t for me.’  I went to Pitt for my public health degree.  In the Intro to Public Health Genetics class, one of the directors of Pitt’s MPH Public Health Genetics program pulled me aside very early on and said, ‘Have you thought about genetic counseling?’  These are two people that I don’t know very well who are saying this is a career I need to look into, so I set up observations with the genetic counselors in Pitt, and then ended up applying to the Pitt Genetic Counseling program that Fall.  It’s been a blessing because this is not what I had planned for my life, but this has been perfect for me.

Would you share what your GC journey has looked like since graduation?  Where has your career taken you?

Kerrianne: I’ve worked in many different domains as a genetic counselor.  I was previously working in the clinic, where my main passion was newborn screening which has a strong public health component to it.  I was talking to people in one-on-one conversations who have these conditions that were diagnosed from a population health standpoint.  I now work for Myriad in the lab industry, which I think is where my MPH kicked in even more.  My passion as a genetic counselor is lab utilization and optimization.  I really like the behind-the-scenes work.  I love chatting with patients one-on-one and families, but my ultimate goal is working on projects that can improve the physician and patient experience.  ‘What can I do on the back end to make it an even better outcome for both parties, individually and collectively, so that patients can get the best care possible?’  I want to make sure the most appropriate testing is being ordered and ensure providers know what testing exists to help their patient.

Aishwarya: I’m in industry now, but when I graduated, I found a job where I felt like I could really combine the public health and genetic counseling degrees.  Eighty percent of my job was with the Center for Jewish Genetics, which is part of the Jewish Federation in Chicago, and twenty percent of my job was clinical pediatrics at Lurie Children’s Hospital.  My role at the hospital was clinical pediatrics, seeing patients who were coming in and working with the medical geneticists.  My role [at the Center for Jewish Genetics] was to be educating the Chicagoan Jewish community about genetics and genetic testing, primarily carrier screening.  They used to have a program that would happen every other month at local synagogues where people would come in, listen to a presentation about carrier screening and risks, and have their blood drawn to be sent for testing.  When I joined, I switched that program to a virtual format and made it a continuous program that people could sign up whenever they want, watch a series of educational videos, and we would reach out to them once they completed that to answer any questions they might have had.  We would mail a [saliva] kit to their house.  They would get the kits, give their sample, and send it back to the lab; I would get the results and follow up to do the counseling.  It was an opportunity to do a lot of education and public health genetics awareness.  I was at the Center for Jewish Genetics for a little over two years, and then switched to industry [in 2015] to work as a medical science liaison (MSL) at Counsyl.  I was an MSL for a few years, and then I switched over to product.  I was the clinical product manager for the expanded carrier screening.  I joined GRAIL, Inc. in May 2021 as an MSL.

Do you think having the dual degree has helped you in your genetic counseling career?  If so, how?

Kerrianne: The MPH focuses on all the other specialties you can run into – health administration, epidemiology, behavioral health sciences – all the specialties that I would want to refer to or that might refer to me.  The dual degree has made me more cognizant of other key stakeholders and the importance we all play, independently and cohesively.  The MPH, for me, has built the acknowledgement that other teams are equally important to genetics in different ways.  It has broadened my awareness and respect of other practices before I even set foot in a clinic.  I think that’s one of the biggest differences I see between me and a lot of genetic counselors I’ve practiced with in the past.  I’ve always looked at it from a much bigger picture; I recognize I can’t be my best self without the support of different teams of providers. I always thought that I was just a different genetic counselor.  I’ve learned a lot of that is from my MPH training.

Aishwarya: I really think the dual degree helps.  More and more of the general public is getting access to genetic testing and genetic information one way or another.  "Personalized medicine" is the buzz word.  I think there are so many ways that genetics is intertwined into people’s care that they don’t even realize.  I think we need to be doing more; public health genetics is very important and it’s what drives my role.  I strongly believe that if I can help educate or empower one provider to be more comfortable and understand the testing that they’re offering and offer better pre-test counseling, the downstream impact is much larger than I could’ve had seeing patients one-on-one.  I think it would be beneficial for a lot of people to have more of a public health background to really understand how everything fits together.  I think the public health degree is so useful because it gives you more perspective outside of what might be your area of expertise.  With the MPH, I had to take an environmental and health sciences class, as well as health policy and management – additional things that you don’t take as a genetic counseling student.  We need to have as much exposure to things outside of our area because those things have an impact on what we do.  I think it helps us to be more open-minded about how we fit into the picture.

What advice would you give to students thinking about completing an MPH in addition to an MSGC?

Kerrianne: When I first graduated with my MPH, I wasn’t sure why I put myself in one additional year of debt, but when I reflect on my MPH, there were so many classes I loved that taught me how other specialties approached a situation, what types of resolutions they could provide, what gaps there may be, and where genetics or another specialty could fill that space.  A lot of what the MPH taught me is to think about the upstream and downstream factors that could influence the indications bringing individuals into the genetics clinic.  If we’re all willing to state our voices and listen to others to work together, it’s all going to go so much better.

Aishwarya: Just understanding other perspectives, it really helps me be a better genetic counselor.  I have a classmate who got an MPH after we finished grad school and a few years later said, ‘This is really important.’  Genetics is already everywhere, and being able to have the public health lens and understanding will help you think wider than our genetics space.  I don’t think I knew all the possibilities of different roles that I could do when I was graduating.  There’s such a diverse variety of roles that are available for genetic counselors to thrive in.  There are so many ways we can use our genetic counseling skills that we shouldn’t hold ourselves back.  I think our genetic counseling degree gives us a great base and there’s so many things we can grow from, do, and learn.

If I had to pare down what I learned from meeting with these accomplished genetic counselors, I would say, think outside the box and build your network.  Not everything has a genetic cause.  Convergence of environmental factors and genetics can account for more indications than you may expect.  Building your network will open opportunities for mentorship, as well as growth to help ensure a better patient experience.                                           

Thank you to Kerrianne and Aishwarya for taking time out of their busy schedules to provide insight on their unique journeys with the dual degree.

*Responses have been shortened for length purposes.

For more information on Pitt’s dual MPH/MSGC degree, visit: https://www.sph.pitt.edu/hugen/academics/dual-mphms-genetic-counseling

Making Waves in the SEAs of Genetic Counseling - Leann To

My father fled Vietnam since my grandfather, a South Vietnamese Army Officer, was sent to a re-education camp after the Fall of Saigon. He slipped away on a small rickety boat during a quiet night at a South Vietnamese sea port with two of his sisters, even after his youngest brother’s multiple failed attempts had left him imprisoned. At the age of 19, my father stayed at Galang Refugee Camp in Indonesia awaiting sponsorship for US citizenship. 

I am a child of Southeast Asian (SEA) immigrants. My ethnic identity was shaped early on in my Vietnamese home, where I spent most of my time playing with my brother and cousins in a quaint Midwestern town. As I grew up, I became familiar with the role of a translator: from reading bills, writing emails, and explaining my days at school in Vietnamese.

 

However, going to the doctor’s office was often a frustrating experience that proved to be difficult. Due to language and cultural barriers, my mother had difficulty finding a doctor that would listen to her concerns, which caused a significant delay in her diagnosis. My family’s experience with healthcare barriers is just one drop in the ocean of many others in the Asian American (AA) community.

 

According to a systematic review by Young et al., many Asian Americans (which includes SEAs) face various challenges to accessing genetic counseling and genetic testing:

 

1.  Lack of Access and Awareness of Genetic Services: AAs have some of the lowest awareness levels regarding genetic testing services compared to other groups. One study found that AAs have the lowest proportion of knowledge regarding their family history, which in part can be attributed to immigration or forced displacement of certain ethnic groups.

2.  Language Barriers: Patients with limited English proficiency face a significant barrier. Studies have brought up that AAs were reluctant to ask questions during GC sessions due to difficulties formulating questions in English. Differences in language can also create difficulty in conversing with healthcare providers and understanding and interpreting test results.

3.  Cultural Factors: AA patients expected providers to give specific health recommendations. Some patients felt uncomfortable with the nondirective nature of genetic counseling. Family roles in decision-making was also highlighted: one study of East/SEA women showed an emphasis on collective family decisions, rather than an individual decision for a range of prenatal tests.

4.  Aggregation of Asian American Subgroups: Few studies have explicitly compared multiple Asian subgroups. AAs are a heterogenous group composed of various ethnicities with different needs. Lumping various Asian communities into one singular non-specific group with no options to categorize by ethnicity creates inequities and masks meaningful differences in health.

 

To serve the needs of a diverse and culturally rich population and reduce health disparities, our profession must take measures to increase diversity and promote inclusion to train graduates who will promote a society in which all people have equal access to culturally competent healthcare and the resources to make informed health decisions. This ongoing endeavor starts with the recruitment and support of students from backgrounds currently underrepresented in the field.

The NSGC 2022 Professional Status Survey reported that 36 genetic counselors identified as SEA, out of a total of 2,859 completed surveys. To put this in perspective, the US Census Bureau published data from the 2016-2020 5-year ACS stating that there are 5.9 million SEAs living in the US. We do not have enough SEA genetic counselors (or those from any racial/ethnic minority groups for that matter) to provide patient/provider concordance.

The National Match Survey Statistics for 2022 reported that 8% of students who matched identified as East/SEA. There was no increase for the 2023 application cycle. As a minority student in the field, I am excited to be able to be part of the future generation of diverse genetic counselors. Although I feel invigorated to promote DEIJ and improve health outcomes for all, I sometimes feel like a fish out of water in graduate school. To all my fellow minority genetic counseling students, these are the ways I found a sense of belonging and a space of support during graduate school:

 

Find your local community and relationships outside of the profession. Moving away to a foreign place far away from my family was a culture shock. I often felt homesick. If I ever feel like I’m drowning in grad school, I go to my favorite family-run Vietnamese restaurant in Pittsburgh. Being able to see others who looked like me and shared the same language reminded me of the reason why I want to be a GC, and I found people who could be my anchor. Creating your community, whether it be your mail carrier or the person that cuts your hair, can end up being some of the most supportive people outside of school. You never know where support can come from.

 

Connect with other minority students and GCs. I was able to meet other racial/ethnic medical genetic professionals through the Minority Genetics Professional Network. I established a monthly peer support Zoom call for current minority GC students and co-moderate it with another student I met via MGPN. Other places, like #GeneChat on Twitter has also provided me with online platforms where I can belong and relate to shared experiences with other minority GCs and students.

Các cậu hãy nhớ nằng:

Đã từng có một phiên bản trẻ hơn của cậu đã không nghĩ rằng cậu sẽ đến được đây vào ngày hôm nay. Nhưng họ đang theo dõi cậu vô cùng tự hào và đầy lòng biết ơn. Vì vậy hãy tiếp tục phát triển nhé!

Tôi là Tô Liên LeAnn, sinh viên tư vấn di truyền. 

My Favorite Places to Study in Oakland and Shadyside - Gopika Rajanikanth

The Pitt Genetic Counseling uses a confidence building model, so during our first year, we mainly focus on classes. As a result, this past year, my classmates and I have had a lot of assignments to work on and exams to prepare for. Personally, I find it a bit difficult to focus if I am stuck in the same location for a while, so I like to study in different libraries and coffee shops around Oakland and Shadyside. I also went to undergrad at Pitt, so these are some of the places I have really enjoyed studying in over the last few years as a student in Pittsburgh.

Human Genetics Study Rooms

The Human Genetics department, where the genetic counseling program is housed, is located on the 3^rd floor of the Public Health building. On our floor, we have two different study rooms for students to use. Since most of our classes are located in the Public Health building, this is a great study space before, after, or in between classes. The main study room has tables and white boards, which makes it a great place to collaborate on assignments. The room also has a fridge and microwave, so we all tend to eat our lunch in here.

The quiet study room is right next door and is comprised of desks that have dividers, so you can have some quiet and privacy. I have found that this is a good place to sit if I really need to focus on something and do not want any distractions, such as if I am working on an online quiz for class.

Divvy Coffee & Buns 

This coffee shop is located along Forbes Avenue, just a 3-minute walk from the Public Health building. The interior is really cute - they have a massive floral wall, lots of travel themed décor, and lots of tables. This is a good place to go if you do not want to go too far from campus and maybe want to get some food while studying. I actually spent a lot of time here last year writing and revising my personal statement when I was applying to grad school.

Hillman Library

This is Pitt’s main library and is a short walk from the Public Health building. The 3^rd and 4^th floors were renovated a few years ago, and the 1^st and 2^nd floors actually opened again earlier this semester after renovation, so the library looks pretty modern. Something useful about Hillman is that you can book group study rooms which can be useful for collaborating with others or if you just need a quiet space.

Coffee Tree Roasters - Shadyside

This coffee shop is located in Shadyside on Walnut Street and is a favorite of many of my classmates. Since a lot of us live in Shadyside, this is a really convenient place for us to meet up on weekends and get work done. Coffee Tree Roasters is a lot bigger than a lot of the other coffee shops in the area, so it is easier to find a place to sit. Something I really like about Coffee Tree Roasters is that they have a closed off room in the back that is specifically meant for studying, so it is a lot quieter compared to the rest of the available seating.

Carnegie Library of Pittsburgh – Main (Oakland)

The Carnegie Library system is the Pittsburgh public library system, and the main branch is located in Oakland right across the street from the Cathedral of Learning. The inside of the library is really beautiful, and if you go up to the second floor, you will find a large room with plenty of long wooden tables and outlets, perfect for studying. There are also massive windows and lots of natural lighting, which makes it a more pleasant place to study. There is even a coffee shop downstairs if you want to treat yourself to something while you study. The Carnegie Library is honestly one of my favorite places to study, and I have definitely influenced a lot of my cohort to come study here with me. In fact, a few of us have made it a habit to come here every Saturday morning to get some work done because we all feel more productive here. Sometimes after studying, I like wandering around the fiction section downstairs and perhaps checking out a book or two.