10 Lessons I’ve Learned So Far in Graduate School - Gabrielle Gauldin

Starting graduate school can introduce a whirlwind of emotions, including nervousness, excitement, fear, and everything in between. It signifies a significant milestone of achievement and personal growth. Leading up to the start of grad school, we often form expectations about what our journey may look like, and here, I share ten things that I’ve learned since starting in the genetic counseling program in the fall.

1. Your cohort will become family

○    Leaving home might feel challenging, but the people you expected to be mere classmates will quickly become your #1 support system. This unique bond we formed as a cohort not only eased the transition moving to a new state and starting graduate school but has made it truly special.

2. Your perspectives will be challenged, and this is a good thing.

○  Your perspectives will undoubtedly be challenged in this time of change, and that's healthy. Genetic counseling is a field that is constantly evolving. Embrace the opportunity to learn from peers, professors, and patients, knowing that your views will grow along the way.

3. Time management may look different.

○  Effective time management is a crucial skill in graduate school, and it's never too late to develop good habits. Graduate school may require a different approach than undergrad, with added responsibilities both in and out of the classroom. Learning to prioritize according to your needs and lifestyle is key. It’s equally as important to recognize when to step back and take a break.

4. Experiencing a sense of identity loss may happen.

○  During my undergraduate years, I had multiple outlets and activities that helped to shape my identity. However, upon transitioning to grad school, I felt disconnected from that sense of self I had created over the previous four years. It's important to take the time to rediscover what brings fulfillment and restores that sense of identity for you.

5. A positive attitude is essential.

○  While every day might not be easy, knowing you're actively pursuing your goals can be a powerful motivator. Remember, you’re one step closer to becoming a genetic counselor.

6. It’s a time to collaborate.

○  You're no longer competing for spots in the program; instead, you're working alongside future colleagues. Grad school is a time to embrace the opportunity to learn from and support each other.

7. Listen to advice, but don’t forget to trust yourself.

○  While guidance from others can be helpful, remember that ultimately, you know what's best for you.   

8. Just because you’re a grad student doesn’t mean you can’t get involved in campus life.

○  When applying to genetic counseling programs, I really valued schools that had a vibrant undergraduate community. Being a grad student doesn't mean you have to miss out on the campus life. Whether it's through work positions, attending events, or joining activities, there are plenty of opportunities to connect with students in different disciplines.

9. It’s time to let go of being perfectionists when it comes to grades.

○  Hearing from program leadership that grades don’t matter can be a difficult thing to convince yourself of. Focus on learning for the sake of helping future patients, rather than fixating on what score you’ll earn.

10. Everyone’s journey to genetic counseling school looks different, and it should be celebrated.

○  In our genetic counseling program, every student’s journey leading up to grad school is uniquely their own, which brings a variety of experiences and perspectives to our cohort. By embracing our differences, we create a positive learning environment where we can all learn from each other's strengths and grow together.

The Grad School Rollercoaster: Navigating Rejections and Celebrating Success - Courtney McGuire

If you’ve gone through the application process for GC school, you’ll know the rollercoaster of stress and emotions that everyone experiences. From gaining advocacy experience and checking off pre-req’s, to putting the final touches on your application materials, it can feel like you’re running a marathon for months on end. As someone who applied multiple cycles, I can share I did not find the process any less exhausting the second time even though I had a better idea of what to expect and how to prepare.

After not matching the first cycle I applied, I was devastated. I had spent so much time and energy applying to schools, connecting with program leadership and current students, and writing and re-writing my personal statements and CV. I had been assured by numerous professionals in my life I had developed a strong application which made it that much harder to accept I hadn’t matched.

I have always been a problem-solver and tend to push my feelings to the back burner. While my initial instinct was to formulate a plan for the next application cycle, I also recognized I would have to deal with my disappointment before it grew into additional anxiety about the next application cycle.

Taking the year between application cycles to get as much exposure to genetic counseling as possible allowed me to better articulate how sure I was (and still am) that this is the best career path for me. I was more confident writing my personal statement and answering application questions the second time around. I was more collected in interviews, feeling I was better able to express my personality and desires to program leadership. I was definitely still nervous about matching, but I was much more confident than the first cycle I applied.

When Match Day came and I learned I had matched at Pitt, I cried. I called my husband, my mom, and ran around my dad’s shop letting everyone know. I was ecstatic, even if a bit overwhelmed. After almost two years of preparation, I would get to go to school for my dream career.

There’s no way around it - getting rejected sucks… But there’s always something to learn. Knowing my classmates as well as I do now, I believe these are the people I was meant to go on this journey with, and as hard as not matching was the first time around, I could not be more grateful to be here now.

For me, navigating rejection is broken down into a few steps. Take the time to experience your feelings - it’s ok to be upset, sad, and even angry. Just don’t stop there; let your feelings fuel your desire to move on, however you choose to. Whether it’s applying a second time, taking a gap year to relax and explore, or moving on to something else, there’s always something to take away from a failure. Remind yourself why you’re doing this. Don’t be afraid to ask for help, especially from the people who know you best. You are important and skilled and worthy; you just have to figure out how to showcase that to others. Enjoy the journey - it makes the success that much sweeter.

AI's Rare Disease Odyssey - Swathi Balaji

Note: The author utilized Midjourney, a generative AI program, to generate the above image from natural language descriptions.

In honor of Rare Disease Day (February 29, 2024) this month, welcome to the rollercoaster of medical mysteries, where patients embark on a journey fraught with uncertainty—the "diagnostic odyssey." For those facing rare diseases, the road to an accurate diagnosis can be a years-long saga, filled with countless doctor visits, unnecessary tests, and, unfortunately, often a misdiagnosis. This protracted timeline not only results in ineffective care but also leads to irreversible damage as the disease progresses. It's like a medical scavenger hunt, but the stakes are far from trivial.

 

Navigating Uncharted Territories

In the United States, diseases affecting less than 200,000 Americans are classified as rare, encompassing over 6,000 conditions worldwide (Cohen & Felix, 2014). These diseases, often chronic and disabling, pose a significant public health challenge. According to the National Organization of Rare Diseases (NORD), the average diagnostic journey for rare diseases spans 5-7 years (NORD Undiagnosed Rare Diseases Registry | NORD, 2022). This prolonged process not only delays treatment initiation but also inflicts considerable psychological distress on patients and their families. Living with a rare disease often subjects the patient to a lifetime of complex care, profoundly affecting their education, physical mobility, and financial stability.

Patients often find themselves on a "diagnostic odyssey," a term reflecting the feeling that no single practitioner comprehensively considers their condition. The current workflow for providers is to take a medical/family history, perform a physical exam, order laboratory tests, conduct imaging tests if needed, and then refer the patient to a specialist. The similarity of rare diseases to other conditions, combined with the no one-size-fits-all approach to diagnosing rare diseases, contributes to diagnostic delays or misdiagnosis. Even good doctors fail to recognize conditions that are right in front of them. The consequence of an early or late diagnosis can lead to worsened symptoms along with the development of other health problems, ultimately resulting in a decline in patient well‐being. These challenges not only affect more than 350 million people worldwide but also create a substantial economic burden on the healthcare system. The overarching need for a solution is clear: a way to streamline the rare disease diagnostic odyssey and support healthcare providers in their quest for accurate and timely diagnoses.

 

Is Artificial Intelligence a Buzzword?

Genomic technologies are technologies used to manipulate and analyze genetic information. The diagnostic landscape has evolved from using cytogenetic techniques using FISH and Karyotype, gene sequencing, and DNA microarrays which are still used in today’s practice. These are powerful tools that providers such as genetic counselors use to convey accurate diagnosis for patients and their families. This could help patients take the best medications and treatments for their disease indications.

While genetic research has come a long way since its original discovery, there is still room for more advancements and developments. However, focusing solely on genetic tools isn't enough if providers across different healthcare systems or countries cannot standardize rare disease findings. The collaborative sharing of sequencing data among clinicians, patients, and organizations is essential to build a robust worldwide network and raise awareness about rare diseases. For providers to practice at the top of their scope and avoid timely case-prep, it is vital to have a searchable or conversational platform to streamline the diagnosis process.

GeneMatcher is a freely accessible web site developed with support from the Baylor-Hopkins Center for Mendelian Genomics as part of the Centers for Mendelian Genomics network. It was designed to connect patients, their families, clinicians and researchers from around the world who share an interest in similar genes. The goal for making GeneMatcher available was to help solve “unsolved” exomes (Sobreira et al., 2015). This is done through cases from research and clinical sources.

While this platform has made significant strides in connecting patients, providers, and researchers worldwide, there is still room for improvement to make the process of searching for relevant information more streamlined. Artificial intelligence (AI) enables machines to perform operations requiring human intelligence, encompassing learning, while analyzing vast amounts of information to identify trends and make decisions with unprecedented speed and precision, emulating human intelligence (Wojtara et al., 2023). AI has the potential to revolutionize the diagnostic process by enabling doctors to analyze extensive datasets, including medical images, genetic data, and electronic health records, identifying intricate patterns difficult for humans to discern, ultimately offering an efficient solution for providers and shortening the diagnostic journey for patients.

Leveraging AI opens the door for healthcare providers to crowdsource crucial differentials specific to rare diseases, encompassing phenotypic characterization, specific biomarkers, historical data, pathology reports, and other factors, considering the inherent heterogeneity in the presentation of these conditions. Within the realm of AI, machine learning (ML) serves as a subset that aids diagnosis through various algorithms, including pattern identification and classification based on past examples. Given that 80% of rare diseases are genetic, AI holds significant potential in analyzing data to provide accurate diagnoses (Rare Genetic Diseases, n.d.). By constructing an ML algorithm, individual cases become puzzle pieces systematically pooled to create a comprehensive population-based dataset. AI then meticulously analyzes patterns within populations that share similar differentials, offering guidance to decode the diagnostic puzzle of rare diseases. An additional asset of AI, natural language processing (NLP), adds predictive analysis capabilities, particularly beneficial when extracting critical data from electronic health records (Wojtara et al., 2023). The overarching objective of using AI in genetic healthcare is to decode the diagnostic journey for individuals grappling with rare diseases, ultimately delivering the sought-after answers to patients through the systematic utilization of crowdsourced data and advanced AI analysis.

 

It's Only The Beginning

Embracing the transformative potential of AI in the rare disease diagnostic landscape not only enhances diagnostic efficiency for providers and offers hope to patients on their diagnostic odysseys but also symbolizes a significant journey for AI itself— an odyssey into the uncharted territories of rare diseases. The fusion of technology and compassion emerges as a powerful catalyst capable of positively reshaping the trajectory of medical diagnoses for rare diseases. The collaborative synergy of AI and crowdsourced data not only enriches our comprehension of individual rare diseases but also unfurls avenues for discerning shared patterns across diverse populations. This data-driven approach holds the key to decoding the diagnostic odyssey for individuals grappling with the complexities of rare diseases, providing a much-needed ray of hope for more accurate and timely diagnoses.

References

Cohen, J. P., & Felix, A. (2014). Are payers treating orphan drugs differently? Journal of Market Access & Health Policy, 2(1), 23513. https://doi.org/10.3402/jmahp.v2.23513

NORD Undiagnosed Rare Diseases Registry | NORD. (2022, August 5). https://rarediseases.org/living-with-a-rare-disease/nord-undiagnosed-rare-diseases-registry/

Rare Genetic Diseases. (n.d.). Retrieved January 30, 2024, from https://www.genome.gov/dna-day/15-ways/rare-genetic-diseases

Sobreira, N., Schiettecatte, F., Valle, D., & Hamosh, A. (2015). GeneMatcher: A matching tool for connecting investigators with an interest in the same gene. Human Mutation, 36(10), 928–930. https://doi.org/10.1002/humu.22844

Wojtara, M., Rana, E., Rahman, T., Khanna, P., & Singh, H. (2023). Artificial intelligence in rare disease diagnosis and treatment. Clinical and Translational Science, 16(11), 2106–2111. https://doi.org/10.1111/cts.13619

Show, Don't Tell: Empathy in Practice - Alex Stauff

Many of the skills I learned as a resident assistant (RA) have been helpful so far in grad school. A lesson that has really stuck with me came from a three minute video (link below) we watched during one of our summer training sessions. It was an animated short on empathy, with delightful anthropomorphic animals and a voiceover by Brené Brown.

In her words, “Rarely can a response make something better. What makes something better is connection.”

This little clip assuaged so much of the anxiety I had about supporting students through a difficult time. Fears like—what if I say the wrong thing? What if the other person can’t tell that I genuinely care?  

Words certainly matter, especially in a field like genetic counseling, where precision in language is critical. But without connection, words roll off like rain. There’s nothing anchoring them.

To me, connection means first and foremost: presence. This feels like an achievable starting point, requiring nothing more than focusing on the person in front of you. No matter how a conversation unfolds, I can be present.

Dr. Vellody, director of the Down Syndrome Center of Western PA, gave a really beautiful example of emotionally responsive communication in a lecture to first year students last semester.

We asked for advice about disclosing a Down syndrome diagnosis in the prenatal setting. I think many of my classmates and I were getting hung up on choosing the right words.

But Dr. Vellody’s focus didn’t start with the words. He said, provide the diagnosis, and then wait for an emotion to come up. Validate it. Wait for another emotion … validate it …. And keep doing this until a person is ready to talk about anything other than how they feel.

When I started my position as a GCA at Magee-Womens Hospital, I was able to sit in on weekly case conferences. This was a really helpful way to “peek behind the curtain” and start getting a feel for clinical and psychosocial considerations before I applied to school. I remember one particular situation a student shared, and the advice she got …

This student and her supervisor recently saw a patient who was newly diagnosed with breast cancer. The patient was extremely upset throughout the session and finally burst out at the student, “Have YOU ever had cancer?! Has anyone in your family even had cancer? Then, how can you have ANY idea what you’re talking about?” The student was distraught and had been at a loss for what to say – she posed the question to the group.

Truthfully, I was glad to be a fly on the wall during the discussion. It feels awful when someone’s anger feels—fairly or unfairly – directed at us. It can be so easy to slip into deflections and defensiveness.     

A seasoned nurse navigator gave advice that immediately reminded me of that short video I love so much.

She said, “You’re young, but I bet you’ve felt fear, or grief. And if you haven’t – you will. Those are likely some of the emotions underlying this woman’s anger. Acknowledge them and connect to those.”

I’m planning to keep that invitation to vulnerability and openness at the front of my mind as I prepare for patient simulations later this semester, and oh-so-quickly approaching rotations this summer.

Video: https://www.youtube.com/watch?v=1Evwgu369Jw

Dr. Colleen Campbell Leadership Seminar Reflections

Dr. Colleen Campbell, a genetic counselor with the University of Iowa Hospitals and Clinics and assistant director at the Iowa Institute of Human Genetics, spoke to our students and Pitt Public Health faculty on December 1, 2023, as part of our Genetic Counseling Leadership Seminar Series. Below are some student reflections on her presentation:

After Dr Colleen Campbell’s insightful presentation, it became apparent that the perceived shortage of genetic counselors in the United States is intricately linked to the uneven distribution of these professionals across states. Dr Campbell pointed out that the total number of genetic counselors may be sufficient, but the geographic dispersion exposes a significant imbalance that poses challenges to health equity. Compared to other patients who enjoy more convenient proximity, the discrepancies become palpable when considering the considerable distances some patients must travel, which can exceed 200 miles, to access crucial care. Dr Campbell’s discussion prompts a deeper reflection on the strategic allocation of genetic counselors across diverse regions. Her emphasis on initiatives like "Charting the Genetic Counseling Landscape: Shaping Public Policy and Advocating for the Future of Genomic Healthcare" underscores the need for collaborative efforts to address and rectify these challenges. After Dr Campbell’s thought-provoking presentation, it becomes crucial to carefully explore strategies ensuring fair access to genetic counseling services. This contemplation seamlessly fits into the wider objectives of advancing genomic healthcare. Dr Campbell’s discussion not only sparked meaningful conversations but also propels future genetic counselors like me to take concrete actions in cultivating a more evenly distributed and accessible framework for genetic counseling services. As I continue my education and enter the workforce, I am inspired to keep this imperative at the forefront of my professional endeavors, advocating for equitable access and contributing to the transformative journey of genomic healthcare. Dr Campbell’s talk has instilled in me a commitment to actively participate in addressing these challenges and working towards a more inclusive and accessible genetic counseling landscape. – Swathi Balaji

The Pitt Public Health students were incredibly lucky to have had the opportunity to hear from Dr. Colleen Campbell at our annual GC leadership seminar. I loved learning about how the field of genetic counseling is influenced by politics and legislation, and Dr. Campbell's advocacy work is truly inspiring. She also offered interesting perspectives about healthcare equity in rural areas and steps that GCs can take to address these inequities. This was an incredibly engaging and thought-provoking conversation, and it has certainly left a lasting impression on myself and my classmates. – Emily Hrach

Listening to Dr. Campbells presentation was inspiring: she is making huge contributions to the field of Genetic Counseling, not only with her advocacy work, but also modeling how GC skills can be used outside of the clinical care environment to empower professionals and improve access to health care. With the growing need of genomic testing interpretation and patient centered genetic services, there is urgency in updating the licensure, professional status, and reimbursement frameworks for genetic counseling. Dr. Campbell provided a vision to move forward and showed us that if there are limited paths to follow, we can always create new opportunities for change. There is so much work needed to overcome the political hurdles that interfere with more equitable access to genomic healthcare in our country. To start, I signed up to meet with my district’s Representative. I believe that we all can participate in building a better future. – Alejandra Bernal

Our training as genetic counselors prepares us to work with patients in various clinical settings. While we regularly discuss aspects of care such as research and clinical trials, empathy, and multidisciplinary care, I did not previously reflect deep into how our counseling skills transfer to public policy. Dr. Campbell elegantly laid out how we can utilize our training in collaborating with lobbyists and legislators to advocate for patients on a larger scale. I am grateful to have had the opportunity to chat with Dr. Campbell. Her advice and positive outlook make me excited to start my journey as a genetic counselor. – Megan Zieber

Whenever someone asks me “what is genetic counseling?” I always describe it as a combination between a doctor, a teacher, and a counselor for genetic conditions. However, Dr. Colleen Campbell's talk emphasized a crucial fourth role that a genetic counselor can take on: an advocate. Furthermore, Dr. Campbell shared how genetic counselors are not only amazing political advocates because of their deep understanding of genetics and patient psychosocial experiences, but also because many of the skills developed as a genetic counselor are important in political advocacy. After hearing her talk I feel I have a deeper understanding of the potential roles and applications of genetic counseling and am even interested in taking part in advocacy myself after I graduate. Thank you, Dr. Campbell, for your inspiring work and presentation! – Jennifer Reif

Dr. Campbell was so personable and knowledgeable. I hadn’t spent much time considering the legislation that impacts our practice as GCs, so I appreciated getting a glimpse into this. I’m excited to help pick next year’s speaker! – Alex Stauff

Listening to Dr. Colleen Campbell's lecture titled "Charting the Genetic Counseling Landscape: Shaping Public Policy and Advocating for the Future of Genomic Healthcare" shed light on the essential partnerships and interdisciplinary efforts required to broaden access to genomic medicine. While I've always been drawn to the field of genetic counseling due to its collaborative nature, Dr. Campbell's insights expanded my understanding. I had previously recognized the importance of partnerships with patients, healthcare providers, and fellow genetics professionals. Yet, I was genuinely intrigued to discover the advocacy work at both the State and Federal levels, particularly regarding the licensure and passage of the Access to Genetic Counselor Services Act. Dr. Campbell's recounting of her journey in securing licensure in Iowa vividly showcased that our envisioned paths often differ from the realities we encounter. As I progress in my training and embark on my professional journey, I am inspired by the lessons of resilience and adaptability she shared, and I intend to carry these invaluable insights forward. – Jerome Doerger

Three Generations of Genetic Counseling Club

The Pitt Genetic Counseling Club was established in 2016. The club aims to educate students on genetic counseling as a career, as well as assist with applications for those already decided on the career. The GC Club meets twice a month, with periodic workshops and volunteer opportunities.  Jodie Vento serves as the faculty mentor for the group.  Hear from three past and current members about their experiences in the Pitt Genetic Counseling Club!

Gopika  Jan 2019-April 2022

I first heard about genetic counseling during spring semester my freshman year, and joined Pitt’s genetic counseling club shortly after that. Through attending club meetings, I was able to learn more about the genetic counseling field and confirm that this was the career I wanted to pursue. One of my favorite parts of the genetic counseling club was being a part of the communications committee, a small group of club members that put together a newsletter discussing different topics related to genetic counseling. We wrote articles about various genetic conditions, current challenges in the genetic counseling field, tips for grad school applications, and interviewed current genetic counselors (GCs) and GC students. Writing and editing articles for the newsletter helped me educate myself on the current state of the genetic counseling field. For example, following the initial outbreak of the COVID-19 pandemic in March 2020, there was an increase in the use of telemedicine. We decided to focus our next newsletter on telegenetics, writing articles about the benefits and challenges of telemedicine and interviewing a GC who provided services solely via telemedicine. Conducting research for articles and speaking with GCs was definitely beneficial for growing my understanding of the field, and preparing for grad school applications. I’m so thankful for my time in the genetic counseling club and I hope it continues to be a wonderful resource for future prospective GC students.

 

Grace  August 2019-April 2023

My time within Pitt’s genetic counseling club is something I will never forget. Much of my understanding of the field was garnered at club meetings where we would speak with practicing GCs, have genetics related ethical debates, learn about various genetic disorders, hear from current students, and evaluate the process of applying to graduate schools. It was inspiring to find a community of people who shared my passions and be able to learn and grow together. One of the biggest blessings of being in the club was having a supportive and noncompetitive community when applying to programs. On several occasions, those applying would get together to discuss their CVs and personal statements, and even practice for interviews. It tremendously helped to make me feel less alone when going through a very stressful process. Overall, my time within Pitt’s genetic counseling club bolstered my love for the profession, helped me develop key skills, and provided me with life-long friendships.

 

Alyssa  August 2020-Present

I first joined as a member of the Genetic Counseling Club at Pitt during the Fall 2020 semester—my very first semester of undergrad. Coming into college with an interest and some previous knowledge about the field of genetic counseling, I was beyond excited to join a club dedicated to the field. I attended online club meetings every two weeks since my freshman year of college was completely online (due to the COVID-19 pandemic). Between navigating the nerves and uncertainty of my first year of college, acclimating to online classes, and attempting to make friends in a time of such overwhelming isolation, I found support in the Genetic Counseling Club - every other week I had something to look forward to. In addition to the club meetings, I was able to write for the club’s student-led newsletter. I appreciated the opportunity to focus and really dive into different topics and discussions in the field, and I enjoyed being able to collaborate with peers to produce an engaging resource. The genetic counseling club allowed me the opportunity to get to know my fellow peers who shared similar aspirations and a passion for pursuing a career in GC—and I am forever grateful to have met such a supportive and encouraging group of friends!

 

For more information on the Genetic Counseling Club including meeting dates/times, visit their webpage, email gccatpitt@gmail.com or follow @gcc_upgh on Instagram.

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