Student Rotation: Undiagnosed Diseases Network

For my optional rotation, I had the pleasure of shadowing research genetic counselor, Rebecca Signer, at the UCLA clinical site of the Undiagnosed Diseases Network. The Undiagnosed Diseases Network (UDN) is a national research study supported by the National Institute of Health, with a dozen clinical sites, a sequencing core, metabolomics cores, and model organisms screening center. The goal of the study is to help individuals and families living with rare diseases to find a diagnosis and better understand the genetic etiology of rare diseases.

At the UDN, I had the opportunity to observe and experience the day-to-day work of a research genetic counselor. This included reviewing incoming applications to determine suitability for participation in the UDN, reviewing the medical records of accepted participants to create patient notes, entering data into a research database, practicing variant interpretation, and observing the behind-the-scenes coordination of a research study as massive as the UDN. I also was able to create a resource pamphlet for UDN patients as well as a handout for post-visit expectations.

Because the UDN is partly a clinical study, being a research genetic counselor is a unique position that involves balancing the patient-facing role of a clinical genetic counselor with the organization and analytical role of a study coordinator. A genetic counselor can apply a great deal of their own training into being a study coordinator: an expertise in genetics, an ability to translate study results to experts and a lay audience, and advanced psychosocial skills for interacting with the research participants. 

In fact, the population of the patients participating in the UDN often results in unique, intense psychosocial dynamics. The individuals and families involved in the UDN are people who often spent years living with life-disrupting symptoms and searching for a diagnosis. About 40% of participants in the UDN eventually receive a diagnosis. In addition, the process for finding that diagnosis can take even more years. After hearing a diagnosis, it can be a massive relief to finally have an answer, or it can be something that they are not quite ready to accept. Regardless, even when a family’s diagnostic odyssey ends, it is often the start to a new journey in managing the condition. Every individual and family has a different reaction and a genetic counselor in the role of a study coordinator is uniquely qualified to help them through the process.

My three weeks at the UDN were an interesting and wonderful learning experience. It was a bit out of my comfort zone, but I greatly appreciated the chance to learn more about being in a research genetic counseling role. It has also helped me re-evaluate how I envision my own career as a genetic counselor. Thank you again to Rebecca Signer, Naghmeh Dorrani, the UDN team, and the UCLA pediatric genetic counselors for welcoming me to their site!

Pooja Solanki, class of 2020

Interview Advice from First Years

The end of January signals the beginning of the interview season for genetic counseling graduate programs. We know the interview process can be stressful and some of our first year students want to share advice for this year’s applicants. We wish applicants the best of luck with their interviews!

Everyone will tell you to be yourself during the interviews, but it is truly the best advice. Not only will the directors see your genuineness, but you’ll get a better sense of whether Pitt’s program is a fit for you as well. You’re interviewing the directors just as much as they’re interviewing you--you want to go somewhere where you’ll be happy for two years! Also, if you’re invited to interview, then your grades and background are impressive enough for you to be a student of the program. Don’t compare yourself to other applicants who are interviewing on the same day as you. You made it! This is the time to let your personality shine and find out whether you can see yourself at Pitt. 

-Kaylee Williams

 Don’t worry about how many interviews you get compared to another applicant, who has heard back from what school, etc. All it takes is one school to match. Focus on what you like about the program, what you don’t like, and whether or not it seems like a good fit for you academically, socially, and financially. 

- Megan Czekaslki

  

Find a nice outfit to wear to the interview and have it tailored. Not only do you look more professional, it’s a great way to give yourself a confidence boost! Keep in mind that it’s okay to be nervous - all of the other applicants are too. Talk about your experiences with passion. Your enthusiasm will help you stand out as a candidate. 

- Ravella Raker

 Make sure to take some time to enjoy yourself and relax! I treated myself with a trip to Phipps Botanical Gardens the day before my interview. 

-Chelsey Walsh

Others have said it before, but it bears repeating: if you were offered an interview at a GC program, then you are qualified. Banish the imposter syndrome! I found it helpful to review program-specific information the night before the interview. This might include their web page, emails, and interviewers’ biographies. Come up with questions to ask, and review your own CV and application essays to remind yourself what you want them to remember about you. When you get there, relax and have a conversation. Explore the program, school, and city - can you see yourself living and studying there? 

-Madeline Reding

Even if it isn’t solely genetics based, talk about what you’re passionate about. The passion will shine through and that will be what sets you apart as an interviewee. Also, make sure to bring questions to ask, show your interest in the program and the individuals with whom you interview.

-Julia Gerow

When you’re in the interview, answer the questions to the best of your abilities, but don’t be afraid to say that you’re not sure of an answer. You’re not a genetic counselor yet, so they don’t expect you to be able to answer everything perfectly. For some questions, there can be many answers so don’t get hung up on finding a perfect answer. Be thoughtful in your responses, and just be yourself! 

-Michael Gosky

 The two things I think are most important are: 1) get a good night’s sleep the couple nights leading up to your interview - not just the night before, even though that is helpful, too - (I always feel like I’m most tired the second day after not getting at least my full 7 ½ hours) and 2) don’t be afraid to take a moment to think about how you want to answer a question, especially if it’s scenario-based. It’s better to take the time and show that you truly want to give the best answer you can, than to try to rush to give an answer that you don’t feel good about!

-Trinity Sprague

When preparing for the interview, try to think through some of the answers to personal questions you think might be asked. Just have a general idea as to how you would answer without sounding scripted. Be yourself and your passion and genuineness will show through. For scenario-based questions looking over the NSGC position statements can be helpful but of course, your answer does not have to be perfect. Lastly, remember that you are interviewing the school’s program too, so do not be afraid to ask questions. It is a nerve wracking, exciting time and it’s worth it in the end. You are going to do great!

-Haley Kulas

Congratulations on your interview! At this stage, the program has already decided you are a qualified applicant and now is the time to let your personality show. The individuals who interview you are looking for genuine and thoughtful responses so it is okay to pause and collect your thoughts before answering a question. I found it helpful to review my application materials and the program website the night before my interview, as well as consider my response to questions regarding my journey to genetic counseling and my background. While it is important to prepare, try to find a balance so that you are confident without sounding scripted in your responses. 

The best piece of advice I received before interviewing was to engage with current students and the other applicants in between interviews and during meals. The programs are looking to put together a cohesive class but more importantly, this will help you get a better feel for the program’s atmosphere and personality. Remember, you are interviewing the program as much as they are interviewing you, so it is important to figure out what you consider a pro and con for each program. Interview season can be overwhelming so take a deep breath - you’ve got this! Good luck!

-Kaitlyn Scola

Student Experience: Precision Medicine Clinic

Dr. Mylynda Massart is a primary care physician who sees patients at UPMC Matilda Theiss Family Health Center and has a special interest in genetics. The genetic counseling students are fortunate to have a three-week rotation with her in our second year. Over the summer, Dr. Massart started a precision medicine clinic; its purpose is to see patients with genetic conditions, family histories that might indicate a genetic condition, and/or need a genetic test ordered. Some of our second year students who have rotated in this clinic share their experiences.

Dr. Massart’s precision medicine clinic is still in it’s “dream stage” as she likes to put it, but currently is taking a small number of patient referrals. As a student, rotating through this clinic offered me the unique opportunity to get involved with the administrative and organizational processes required to get a clinic off the ground. By attending meetings, reviewing literature, and creating forms, I got a small taste of what Dr. Massart and her team’s vision was turning out to be. And it’s exciting! I even got to speak to and gather family histories from some of their patients. The idea that genetic testing can direct medication management for patients has been around for a while now, but Dr. Massart and her team are doing a great job at making this idea a reality.

-Andrew Fazenbaker

I had the honor of attending Dr. Massart’s first precision medicine clinic! One patient actually had two rare genetic disorders but no genetic testing due to a number of barriers preventing this individual from being seen by medical genetics. With Dr. Massart, I was able to take a detailed intake for this patient and give an overview of genetic testing. Dr. Massart plans to order the genetic testing this patient needs through the precision medicine clinic. It was very exciting to see firsthand the impact this clinic will have on individuals living with a number of genetic disorders. I am excited to see this clinic grow and help a large population of people with genetic disorders who need a PCP experienced in genetic disorders.

-Sarah McGee

Being able to spend time in Dr. Massart’s primary care clinic has been an eye opening experience.  I never had any idea of how much work it takes to set up a clinic, never mind all the other clinical and research work that Dr. Massart does on a day to day basis.  My favorite part of spending time in her clinic thus far is collaborating with medical students and teaching them about what “red flags” we look for in families to assess genetic risk.  It highlights how collaborative Dr. Massart’s clinic will be and the need for integration of genetics into primary care. She is truly changing the game and it is exciting to be a part of it.

-Christine Drogan

In Dr. Massart’s clinic, I had the opportunity to share my interest in genetics with other PCPs, nurses, medical students, pharmacists and pharmacy students. It became evident at a Precision Medicine meeting how important working as a multidisciplinary team is when we were researching pharmacogenomic (PGx) testing companies. One of the companies we were discussing briefly mentioned genetic counseling as an option following testing. I researched how many others did the same. Of the five companies offering PGx that we were investigating, only one required genetic counseling. Two companies recommended genetic counseling, of which one added it as a “complementary” service with purchase of the test. The remaining two companies did not mention genetic counseling on their website at all. The fields of precision medicine and pharmacogenomics are rapidly becoming integrated into our healthcare system. Many genetic counselors have little formal training in pharmacy or pharmacogenomics which is why it is so important for us to continue collaborating, learning from and educating our healthcare provider teammates. Dr. Massart is a fantastic person to lead the charge.

-Rose Venier