Friday, November 10, 2017

Expanding Public Health Genetics

NYMAC's logo.
Last month, we had the opportunity to attend the NYMAC (New York Mid-Atlantic Consortium for Genetics and Newborn Screening Services) steering committee meeting in Washington D.C.
NYMAC is one of seven regional genetics networks in the nation and encompasses seven states: Virginia, West Virginia, Maryland, Delaware, Pennsylvania, New Jersey, and New York, as well as the District of Columbia. These regional genetic networks were established to increase awareness, knowledge, and access of genetic services. Historically, NYMAC has focused on assessing and improving newborn screening in the region’s states as well as other genetic initiatives.

The steering committee meeting focused on NYMAC’s projects for the new grant cycle, which started May of this year. The five main goals of this grant cycle include education, access, telegenetics, quality improvement, and newborn screening. Being new to the organization, it was a great opportunity to see first hand how an organization designs and implements projects.

We covered decision-making plans for metrics and deliverables, discussed how best to implement new technologies, and brainstormed educational priorities for health care providers and patients. There was no better way to get informed, get involved, and get to know our collaborators than to be at the steering committee meeting. Other attendees included a newborn screening nurse, two representatives of different parent-to-parent organizations, medical geneticists, several telehealth consultants, members from the Health Resources and Services Administration (HRSA) and the National Coordinating Center (NCC) for the Regional Genetics Networks, project managers and proposal coordinators, as well as several other professionals. We had the opportunity to speak with leaders in the field, to learn information we didn’t know we didn’t know (such as how to address state licensure issues in telecounseling), and also to contribute our unique perspective to the dialogue around us.

Some of our Pitt Graduate Student workers are helping
NYMAC establish a public health genetics hotline.
As student workers for NYMAC, our primary project is to establish a toll-free phone line that will serve to assist medically under served populations in finding genetic services. We will provide them with a list of clinics in their area and the average wait time for an appointment at these clinics. We will also make appropriate referrals to other outreach organizations if callers have specific questions about a genetic syndrome or if they want to be connected to other families for support. To prepare, we will be updating information on available genetics clinics and outreach sites. We will also be developing lists of “genetic red flags,” or symptoms that should elicit medical attention, organized by age to be used as a reference for both health professionals and patients.

Attending the NYMAC steering committee meeting was a great professional experience for us as current students in the dual degree program (MS in Genetic Counseling and MPH in Public Health Genetics). We are both enthusiastic to help establish the phone line, work with this team of leaders, and to improve the access of genetic services to under served populations in our region.
-- Sarah Brunker, Class of 2019
-- Claire Leifeste, Class of 2018

Friday, October 27, 2017

Dealing in the Rare: Cutis Laxa

In genetics, we often say that we deal in rare. This is especially true in my work position in Dr. Zsolt Urban’s laboratory in the Department of Human Genetics. I have the unique opportunity to work alongside Dr. Urban and the other hardworking members of the lab as a clinical study coordinator. The Urban lab studies a rare connective tissue disorder called cutis laxa, a condition characterized by loose, lax skin that can also affect many different body systems. The effects of cutis laxa on the body are widespread because it causes changes in the extracellular matrix, a structural component of the connective tissue. Connective tissue is found throughout the entire body and can be thought of as the glue that holds our bodies together.
 
A representation of the extracellular matrix.
Over time, pathogenic variants in over ten genes have been found to disrupt the extracellular matrix and cause cutis laxa. While changes in these different genes can cause a similar condition, pathogenic variants in the different genes can present with unique clinical features, warranting the delineation of cutis laxa into gene-based subtypes. Our study participants are truly the driving force behind our growing knowledge of the similarities and differences among the different subtypes of cutis laxa . As the study coordinator, contacting our participants, consenting them to our study, and gathering their clinical information is an essential part of my job. This is an important step in establishing a natural history of the different types of cutis laxa. By providing clinical information, participants from all over the world are contributing to our insight on the clinical course of cutis laxa. This information is invaluable to individuals and families faced with a rare disease diagnosis who every day deal with the unknown. This information also helps direct future research and hopefully better diagnostic tools and treatments.

Taking family histories and coordinating sample collection for genetic studies from our participants are other important aspects of my position. While molecular analysis determines the subtype of cutis laxa within an individual or family, when it is combined with detailed family histories, it allows us to determine the inheritance pattern of cutis laxa in families. Autosomal dominant, autosomal recessive, and X-linked forms of inheritance have all been observed in families with cutis laxa. Knowing how cutis laxa is inherited within a specific family allows us to determine at-risk family members for testing as well as recurrence risk for couples.
The Rare Disease Day logo.

This position exemplifies the merits of rare disease research, an area that has fortunately been able to grow rapidly with advances in genetic knowledge and technology, as well as through the support of institutions like the National Organization for Rare Disorders (NORD)* and the National Institute of Health, which has programs like The Genetic and Rare Diseases Information Center (GARD). This position has also allowed me to glimpse into the lives of families facing the challenges of rare disease every day. The opportunity to witness their strength, resilience, hope, and grace has been the greatest privilege of this position. Our study participants have taken on tremendous advocacy roles throughout their lifetimes and are truly inspirational.

-- Emily Spoth, Class of 2018

*NORD was originally formed as a coalition of parents of children with rare conditions and has grown to include over 250 patient organization members. One of these members is Cutis Laxa Internationale, centered around cutis laxa! Every year, NORD sponsors Rare Disease Day. The next Rare Disease Day is February 28, 2018! You can learn more at their website: www.rarediseaseday.org



Friday, October 13, 2017

Leadership Seminar: Laura Hercher Edition

The University of Pittsburgh Genetic Counseling Program annual Leadership Seminar invites a leader in the genetic counseling field to come speak to current students and local counselors each year. The speaker is chosen by the students, and the class of 2018 invited Laura Hercher - writer, ethicist, Tweeter - as the third speaker in the series. It was quite a memorable experience. See what current students had to say about the experience. If you are interested in viewing any of the talks from the seminar series, you can find them on the program’s homepage.

This year's speaker was Laura Hercher.
I was both very excited to listen to Laura speak and to have the opportunity to introduce her before the lecture began. She is not only entertaining, but very insightful. I think her underlying message of conscientious action within the ever-growing field of genetics and genomics speaks volumes to me and pushes me to become a professional that advocates for their clients and keeps public health in mind. She also inspired me to find more of my own voice when it relates to genetics issues. - Meg Hager

Visiting with Laura at breakfast before her talk was inspiring.  I found her perspective on genetics, and on life in general, refreshing.  She spoke openly about her opinions on controversial subjects like gene editing and DTC testing.  Her honesty was matched only by her wit, and somehow she managed to be entertaining at the same time.  It was a great experience, and I hope to have more interactions with her in the future, and use her inspiration to help me find my own path. - Seth Lascurain

As a genetic counseling student, I found the depth and expanse of her knowledge on emerging technology and innovations in genetics awe-inspiring. She truly is a lifelong learner! It was inspiring and reassuring to hear such an established genetic counselor explain that in spite of her years of counseling and research experience there is still so much for her to learn especially as new technologies emerge. Our education as genetic counselors does not stop at graduation. - Joya Petersen

It was such a privilege to meet with Laura before her talk and hear her thoughts on the role genetic counselors can play in shaping public policy. As a first year student just starting to find my professional voice, I was inspired by her ability to balance compassion with conviction when weighing in on such charged topics as gene editing. I especially enjoyed the talk she later gave on “Hot Topics” in genetics: I can’t wait for it to spark meaty discussions with my friends and family, who will definitely be getting the link to watch! - Caitlin Russell

This year’s leadership seminar was an outstanding event.  Speaking with Laura during the breakfast session allowed her to provide us with great insight into the issues that are important to us.  Then in the afternoon, her seminar presentation showed us which issues she felt were most important.  Personally, the seminar made me aware of issues I had not been aware of before.  Her engaging personality created a comfortable environment where discussion and questions were not only welcomed, but encouraged.  Laura is truly a leader in the field who plays many roles; writer, podcaster, ethicist, student research coordinator, and author.  Her passion and dedication to the field is inspiring. – Meghan Cunningham
Direct-to-consumer testing was one of the topics Laura covered
during her talk. [DepositPhotos/ Julia_Tim]

Laura was a striking presence. She gave me the impression that she is not afraid to take a stance; listening to her talk about some of the important controversies genetic counselors have had a hand in settling during her career, made me think about what my career as a genetic counselor may entail. I felt inspired to imagine how I could embody roles outside of strictly patient care, as a patient advocate, concerned public health professional, and even legislative advisor, in the future of this rapidly-expanding field. – Charlotte Skinner

As a first-year genetic counseling student, having the opportunity to meet with Laura and hear her speak was an invaluable experience. At breakfast, she was open and passionate about ethical issues and challenges she sees for genetic counselors. As she spoke, it became apparent to me how important it is to find your own voice and to not be afraid to use it. Laura had great advice about the different avenues she has utilized to share hers and how to get involved in these crucial conversations ourselves. I know the inspiration Laura left me with will follow me well into the future. - Alyssa Azevedo

Laura was incredibly generous with the stories and wisdom that she shared with students at her breakfast visit, and she provided us with valuable information on how the field is growing and evolving during her seminar. After she discussed eye-opening advancements in genetic technologies and genomic medicine, I realized that the sky's the limit for the genetic counseling field. In addition to her passion and enthusiasm, I will also take away all the resources she provided during her time with us, from websites to blogs to podcasts for genetic counselors. Laura inspired me to forge my own path as a genetic counselor, and I look forward to being a lifelong learner and leader just like her. - Rebecca Clark

Laura Hercher speaking at the seminar series.
Having the opportunity to meet with Laura before the lecture and listen to her talk about her experiences and achievements was such a great experience. She answered controversial questions with ease and was personable in telling us stories based on some of her experiences. Laura is a captivating public speaker, and it was so interesting to hear about her thoughts on headline genetic stories from this year, and the impact those stories will have on genetic counseling in the future. It was such a great experience and her passion for the field of genetics and genetic counseling was contagious. - Rachel Sutton

Laura is a forward thinker of the genetic counseling field, and being able to speak with her and hear her perspective was absolutely fantastic. Being a first year student, her insight will shape the way I think going forward in the field. She inspired everyone to think critically, to be a lifelong learner, to utilize nontraditional avenues, and to address challenges head on. – Megan Hoenig

It’s always inspiring to hear from leaders in our field, especially one as passionate and articulate as Laura Hercher. She is a fascinating speaker who commands attention with her strong stances on important issues. The opportunities to meet more informally as well as witness her lecture were extremely motivating experiences that will continue to influence me as I move forward in my training as a genetic counselor. - Emily Spoth

I really enjoyed learning about the variety of things that one can do with their genetic counseling degree, and how we can utilize different avenues to advocate for our patients.  I was, personally, really excited to see Laura speak as I've been an avid follower of the DNA exchange and listener of Mendel's pod.  For students who are coming back to school to pursue genetic counseling, especially those of us who didn't start off in the sciences, seeing how much Laura has been able to take from her previous work and make it applicable to genetic counseling was really great. - Natasha Robin Berman

I am thrilled and incredibly grateful that Laura Hercher accepted our invitation to speak to our program. Our discussion over breakfast was quite stimulating, and her presentation on the top 5 genetics stories of 2017 (so far) was both entertaining and thought-provoking. I am personally interested in the ethical issues surrounding prenatal and preconception genetic counseling, so I found her opinions and perspective surrounding ethics, access, and possibilities of prenatal genetic testing particularly intriguing. - Julia Stone 

Friday, September 29, 2017

NSGC Impressions

The start of NSGC.
Our second years were able to attend the NSGC conference in Columbus, Ohio this year. Each one of them has a unique perspective on the event and what it meant to them.

My first NSGC conference was amazing! I had a blast spending time with my classmates, listening to lots of interesting talks and poster presentations, and catching up with my friends and colleagues from other programs, many of whom I hadn’t seen since interview season 2016. It was inspiring and humbling to be sharing the space (and the week!) with so many amazing genetic counselors in the field who I look up to (and hope to become one day), and a much needed reminder of what I am working towards. - Julia Stone

It was wonderful to be surrounded by other people with similar interests and experiences, but very

different perspectives and approaches. I was reminded again why I am so excited about genetic counseling, and my stress about finding a job was replaced with enthusiasm! Of course, bonding and spending time with my classmates, supervisors, and program directors was one of the best parts. I’m looking forward to joining Special Interest Groups and giving back to the GC community! - Kaitlin Sullivan

The NSGC conference was amazing! Sitting in the huge lecture hall amongst hundreds of genetic
No NSGC is complete without a water bottle.
counselors, I felt awestruck and proud to finally be a part of NSGC. The workshops and panels helped me to learn about a variety of pertinent topics in genetics and gain a better understanding of NSGC’s goals and current agenda. - Joya Petersen

I enjoyed my first NSGC conference. It’s easy to get tunnel-vision while in the GC/MPH program, but this conference reminded me about what all of us (students) are working towards, the community we’re now a part of, and the families and individuals we’re doing this for. - Emily Mazzei

I remember thinking halfway through the NSGC conference, “I’ve found my tribe.” It’s incredible to be surrounded by so many people passionate about the field of genetic counseling and to see everyone come together to work on professional development at NSGC. That being said, the NSGC conference was one of the most exhausting experiences I’ve ever had. There was so much information to take in and so many things to do in Columbus. There was never a dull moment! I’m looking forward to my next NSGC conference. - Meg Hager

My first NSGC conference experience won’t be my last.  I had an opportunity to meet other genetic counselors with interests similar to mine, and the experience was amazing.  For me, this conference was all about taking in the experience.  I went to some seminars and heard about really interesting topics related to genetic counseling, but I spent most of my time talking with others at the conference.  I talked with people who shared my interest in issues like Direct to Consumer (DTC) testing, VUS reclassifications, insurance fraud, new testing options, and so many more topics.  I made contacts that will help me find a job when I graduate and help me complete my thesis project so I can graduate.  I found myself utterly exhausted at the end of each day, but eager to do it again in the morning.  - Seth Lascurain
An interactive art piece at the Greater Columbus
Convention Center featuring one of our second-
year students.

The NSGC conference was a fantastic opportunity to connect with other genetic counselors from all over the country. It was exciting to be surrounded by so many other people who share passions and experiences, especially being on the threshold of the profession. I was thankful for the chance to learn so many new and exciting things from the leaders in our field. - Emily Spoth

I loved learning about all of the current advancements as well as participating in discussions regarding professional issues in our field. I now have a better understanding of ways to get involved in our national society. The conference was also a great opportunity for networking! - Claire Leifeste

The NSGC conference was a good opportunity to look towards the future, and speak with potential employers in a casual, uncontrived environment. - Jenni Peck

I really enjoyed my experience at the NSGC conference! There was so much information, and on so many different subjects, that we were all able to really tailor our time there to our own interests. It was also a great opportunity to learn about different things you can be as a genetic counselor, and make connections for going into the field in whatever capacity you choose. - Julia Verbiar


I loved being able to attend the various talks and meetings that happened during the conference. Hearing discussions between counselors with a variety of different professional experiences made me even more excited to become a part of such a dynamic field. Visiting the booths in the exhibit hall also reinforced the wide variety of different career opportunities and resources currently available to genetic counselors. The Pitt alumni dinner was also one of the highlights. Seeing how successful Pitt graduates have been helped to remind me how grateful I am to be receiving such a strong educational foundation. - Jaclyn Amurgis

-- The Class of 2018


Friday, September 15, 2017

Class of 2019: Looking Ahead

With a new semester off to a solid start, the class of 2019 has a lot to look forward to during their time in Pittsburgh.


Hail to Pitt! Many students are excited to start
their genetic counseling careers at Pitt.
“I am excited to have the opportunity to complete my graduate studies in such a diverse and interesting city like Pittsburgh. I cannot wait to learn more about professional genetic counseling, and to create life-long friendships with our classmates!” - Samantha Afonso


“The most surprising thing about moving to Pittsburgh is that you can park your car facing whichever way you want. I’m really excited to learn about genetic counseling and science! I’m so excited to learn about my classmates and create friendships” -Natasha Robin Berman


“I am looking forward to the many opportunities, in and out of the classroom, that I will have to observe and interact with fellow professionals in the field I am becoming part of. I am excited about rounding out my education with a better understanding of public health. Having never spent much time in Pgh, I’m also excited to explore the city’s vibrant performing arts scene (and food scene!) in my free time.” -Charlotte Skinner


“I am most excited to take classes that are tailored specifically to genetic counseling students, which will equip me with a foundation of knowledge directly applicable to my future career. I also look forward to observations and clinical rotations throughout the city in Pittsburgh’s established, reputable hospitals!” -Rebecca Clark

Students are excited to get back into the classroom to add
skills to their GC toolbox.

“I am excited to be a part of a program with a wealth of knowledge and opportunities and to be in classes directly applicable to the career I am passionate about. I look forward to adventuring Pittsburgh and experiencing all the seasons (the Texan in me might freeze this winter, though).” - Megan Hoenig


“I can’t wait to join such an enthusiastic group of classmates and future colleagues. I’m excited to learn from the unique experiences that brought all us to this common path and to support each other as we go along it. As a California native, I’m also hoping I can learn a few techniques from some of them for surviving the winter.” - Caitlin Russell


“I’m looking forward to experiencing all that Pittsburgh has to offer over the next two years! There are so many museums, restaurants, galleries, hiking trails, and other exciting things to do in the city. Moving to Pittsburgh, I was surprised by how friendly everyone is here; it’s not uncommon to find yourself learning the life story of the person sitting next to you on the bus! I’m also excited to be able to expand my knowledge of Public Health Genetics during my time here at Pitt and hope to use that knowledge in the future to help improve a community.” -Meghan Cunningham


Some of our students will have to learn how to bundle up in
colder temperatures in order to survive Pittsburgh winters!
“I’m looking forward to learning as much as I can about genetics and genetic diseases so that I can help patients in my rotations, and later, in my career. I’m also excited to get to know my classmates as we share the next 2 years together!” - Maggie Hufton


“I am excited to continue my education at my favorite school (Hail to Pitt!) by learning more about genetics than I ever thought possible, and to continue exploring all that Pittsburgh has to offer over the next two years with new friends and colleagues.” - Rachel Sutton


“The most surprising thing about moving to Pittsburgh was finding out that I needed a bigger umbrella and rainboots! I’m excited to be part of a dynamic university as I learn more about genetic counseling, public health, and science. I’m eager to learn and develop skills that will last me a lifetime and maybe a little bit of that Pittsburghese (Hey, yinz).” - Alyssa Azevedo

Friday, September 1, 2017

Genetic Testing as Séance

     When most of us think about our health, we think of things like blood pressure which can have serious implications for our own health, but may not mean much to our relatives. Most likely, you haven’t given much thought to your genetics, unless you have a reason to. For most of the medical
There is no crystal ball that can tell clinicians what to do with
genetic test results in the event that their patient passes away
and their family members want information.
community, your genetic information is part of your protected medical information. This means that physicians follow the same rules to protect your genetic information as they do for your other health information. But, there is something different about genetic information. It can have implications for your biological relatives, not just you. Many people will decide to allow relatives to be notified of any genetic conditions they are diagnosed with, and usually this process works well. A problem can occur when genetic testing doesn’t provide an immediate answer, and the patient passes away before it can. When this happens, clinicians are left to grapple with the conflicts between legal authority and clinical relevance. On one side are those with the legal authority to receive this protected medical information about the deceased and on the other side are the biological relatives who that information may have clinical relevance for, but may not have legal authority to receive it. There is no clear guidance on what a clinician is to do with information they gain about a deceased patient’s genetic testing. My study, “Disclosure of Reclassified Variant of Uncertain Significant (VUS) Results to Biological Relatives of Deceased Patients: Current Practices”, has the goal of finding out what clinicians are currently doing with that information. I am asking genetics professionals across the country what they currently do and what they think should be done when a clinician is notified of new information regarding the genetics of a deceased patient. The long-term goal of my study is to contribute to policy development that will guide clinicians through this complex situation. This is a complicated problem though, and the first step is going to be finding out what is happening now, to help us understand where we need to be going in the future. In taking on this project, I have learned a great deal about developing a research project, survey development, collaboration, policy, and genetics.
     Our bodies carry two copies of every gene, we get one from our mother and one from our father. Genetic testing is indicated for individuals and families with conditions known or suspected to have a
DNA helps to make us who we are and is part of our protected
health information.
genetic cause. Conditions for which genetic testing is available exist in many medical fields, including oncology, pediatrics, prenatal care, cardiology, and hematology among others, and can impact patients at any age. Genetic testing can be performed on single genes, multiple genes (gene panels), whole exome (the part of our DNA which is used to make proteins), or whole genome (all our DNA). The type of testing performed depends on the symptoms of the patient, the amount of information desired, and the scope of genetic factors involved for the condition of concern. If a genetic condition is identified, it may modify medical management of the patient such as screening methods and frequency as well as surgical and medication options that may become available. However, not all genetic variants will impact medical care. Variants identified through genetic testing fall into three main categories: pathogenic variants, benign variants, and variants of uncertain significance (VUS). A pathogenic variant is known to be associated with a condition, a benign variant does not impact our health, and a VUS is a genetic change which has unclear implications.
     In 2015, the American College of Medical Genetics put forth guidelines for classifying genetic variants into five different classifications: pathogenic, likely pathogenic, of uncertain significance, likely benign, or benign. These guidelines recommend using published literature, computational predictive programs, family studies, and bioinformatics resources to determine which classification is most appropriate for a specific variant. Information from these sources is combined to assess the variant’s impact on health and determine its classification. If available evidence is insufficient for a variant to be classified as pathogenic, likely pathogenic, benign or likely benign, ACMG recommends classifying the variant as being of uncertain significance until available evidence becomes sufficient to reclassify the variant. Clinicians may use these general guidelines to classify genetic variants, but the details of the process vary. A VUS can be identified in anyone who gets genetic testing. VUS results are not used in medical care, but are recorded by the laboratory that performed the testing until enough information is available to reclassify the variant. However, the reclassification process may take years and some patients will pass away before reclassification of their VUS occurs. When a VUS result is reclassified by a laboratory, many will send out an updated report with relevant information about the variant to the ordering physician. Even after the patient has passed away, the reclassified results may still be of clinical value to surviving biological relatives. Biological relatives of the deceased patient have a certain probability or chance of having the same variant as the patient, depending on how closely they are related. Reclassification of a VUS to a pathogenic variant indicates that biological relatives of the deceased patient may have increased risks to carry the same variant, and associated disease risks. Conversely, a reclassification of a VUS to a benign variant can help eliminate the anxiety associated with an uncertain result.
     There are currently no guidelines in place for when and how clinicians should contact biological relatives of a deceased patient to inform them of a reclassified VUS result. However, this issue will
Determining what to do with genetic test results of someone
that has passed away may have implications for other family
members.
become increasingly important as genetic testing becomes more common and testing volume increases. A change in clinical testing practices, from single gene tests to broader tests that look at multiple genes, will likely increase the frequency of VUS findings as well. In general, increasing the number of genes being tested increases the likelihood of discovering a VUS. Current policies which do address the issue of genetic information disclosure after the death of the patient typically treat genetic information as medical information. In Pennsylvania, this means that only the executor of the estate has legal authority to receive the information once the patient has passed away. Clinicians who receive a VUS reclassification for a deceased patient may struggle with who has legal authority vs. clinical relevance to receive that information. Guidance on this issue is minimal, and clinicians may use a wide variety of methods to identify the most appropriate person to receive the reclassified result. Clinicians may reach out to the last known contacts for the deceased, the spouse of the deceased, the hospital’s medical records department, etc. in order to identify who can receive the reclassified VUS results. Other physicians may not attempt contact at all, since the patient is deceased. Because of the lack of guidance and the growing relevance to clinical genetics, it is becoming increasingly important to establish guidelines which best serve the patients, their families, and the clinicians involved in this process.
     My study will distribute a questionnaire to about eight-thousand genetics professionals across the
While it may be a lot of work, researching these types of
questions go into providing better genetics care for the
population.
US and ask what they have done when they encountered this situation. A reclassified VUS in a deceased patient is not something that occurs every day though, and I will also be asking for opinions on what should be done in these situations. Data will be reported according to demographic information such as years of practice and current role of the responder. I’ll also compare responses and look for factors which may be affecting those responses. Data collected though this survey will be reported in my thesis project and hopefully published as a research article in a peer-reviewed journal to promote work on this issue and raise awareness in the genetics community.
     For me, the process of developing a study from start to finish has been very rewarding. I am fortunate to work with some very experienced mentors who have provided a great deal of insight into the construction, distribution, interpretation, and reporting processes involved in this study. Developing a survey from scratch has been the most interesting component so far. I learned a great deal about the process of developing a survey and the work that goes into it. I have also worked with the Institutional Review Board (IRB) to ensure the privacy and well-being of research participants is protected and coordinated distribution of the survey with national organizations. It is no surprise that I have learned a great deal in this process. I have a long way to go before this project is completed, so I know I will learn a lot more. I have enjoyed working with my mentors and am excited about the skills I am developing. I now look forward to research opportunities after graduation, and hope to continue working on this issue to reach the end goal of policy development.

-- Seth Lascurain, Class of 2018

Friday, August 18, 2017

Reapplication: A Worthy Challenge

     There is a distressing feeling that accompanies finding out you have not been accepted to any genetic counseling programs. For months, you have agonized over every letter of your personal statement, typed and retyped answers to application questions, entered the basic details of your life on form after form, and paid fees in hopes of receiving an interview. This does not even account for the hours of shadowing, volunteering, working, studying, and soul searching that go into preparing for the application process.
Remember, Hercules may have suffered some defeats, but
he still persisted, and so can you!
     Then, as days stretch into weeks after hitting that scary “submit” button, you begin to receive messages from programs either telling you, “thanks, but no thanks,” or, “please, do come join us for an interview.” The interview process itself is its own Herculean labor. At the end of each one your jaw is sore from smiling, your mouth is dry from conversation, and your eyes are heavy from lack of sleep. Sometimes you leave feeling completely satisfied with your performance. Sometimes you nitpick the way you answered that last question when you were starting to feel tired.
     The next part is the long wait for Match Day. Some days you feel confident that you will be telling your family members all about class and clinic in a few short months. Other days you think that the chances of getting in are a million to one. The mind games seem worse when you need to re-explain that when you say you will find out April 25, you mean you will find out April 25, not next week, not tomorrow, not today. And yes, that is plenty of time to find an apartment. You are not the first to do it, nor will you be the last.
     After all of this work, to find out you did not make the cut feels devastating. But is it all for naught?
     The short answer is no. The long answer is a little more involved.
     Reapplying to a program that did not accept you the previous year does not “look bad.” If anything, it shows that you are willing to pause, reflect, and improve upon yourself, all qualities vital to a good genetic counselor. There are many students who do not make it in on the first try. From my experience, the unintentional gap year was a positive one, and getting accepted the second time
The path to success may not always be clear, so sometimes
we must forge our own way.
around made it all the sweeter.
     Before you begin reapplication, set aside time to feel sad. Spending months on a project that does not come to fruition is tough, and it is okay to acknowledge that.
     The next step on your journey is answering this question: Is genetic counseling right for me? Think about what you have learned throughout the application process and whether you can pursue it again. If your answer is yes, reach out to programs for pointers on how to improve your application. The most helpful question I was asked during this time is, “What is your plan for the next year?” Program directors like hearing your ideas because it shows you take initiative and that you care about the profession.
     Then, of course, you need to execute your plan. For everyone, this will look a little different, but here are some general pointers:
  1. Learn everything you can about genetic counseling. One way to do this is shadow more. Reading is also very helpful. Some personal favorites are The DNA Exchange and Genome Magazine – both online, both free. NSGC has some great, free webinars too! The Journal of Genetic Counseling and Genetics in Medicine are both great resources that can be accessed through many university libraries. Many states also have genetic counseling associations with annual conferences you can attend, which is definitely something to include on your resume.
  2. Update your personal statement to reflect changes you made since the previous cycle. You want to showcase the hard work you have put in for any programs viewing your application again. Make sure those writing your letters of recommendation receive an update on your additional accomplishments as well should some of them be the same people.
  3. Practice interview questions. Being able to answer questions about your strengths, weaknesses, times you encountered conflict, etc., should become second nature. Having some stock answers you can build upon will help you with confidence on interview day.
  4. Be open to new experiences. While learning a new skill or taking a trip may seem completely unrelated to the application process, everything builds upon who you are as a person. You never know what you may be able to relate back to genetic counseling, and it is more material to work with during interviews.
  5. Be confident. Failing to get in once does not mean you are any less capable of becoming a genetic counselor. It simply means that you were not as well prepared as someone else. Remember: you can – and will – take steps to remedy that.
     To be honest, reapplying is hard. It is a sense of déjà vu that you are simultaneously more and less comfortable with. I came to deeply appreciate the reapplication process. Ultimately, it was a time for me to improve upon not just my application, but myself. And ultimately, the experiences I had during my unintentional gap year will make me a more capable genetic counselor. So, I challenge those of you reapplying to rise to the occasion and make this your best year yet. Good luck!

--Meg Hager, Class of 2018