Friday, December 4, 2015

GeneDx Optional Rotation

Recently, I was honored to inaugurate the GeneDx optional rotation for the University of Pittsburgh Genetic Counseling program.  This rotation gave a tremendous amount of insight into the various roles a genetic counselor can play at a genetic testing company and how counseling skills can be used in alternative ways in the industry setting. 

The counselors organizing this rotation clearly put a lot of thought and care into providing a meaningful, hands-on, and varied experience.  The first week began with the Inherited Cancer group and an introduction to variant classification using the new ACMG guidelines.  

For the rest of the week, I was given a number of cancer gene variants to classify, which required an understanding of population databases, mutation databases, in silico models, functional studies and the ability to perform a thorough literature review.  The data gathered from these sources are then synthesized to determine a final classification for the variant.  

During the second week, I worked with counselors in Cardiology and Exome.  After being introduced to these programs, I continued to hone my ability to classify variants and also worked on crafting gene paragraphs as well as negative report writing.  

The third week was spent with Customer Service.  Over two days I observed the wide variety of tasks performed by Customer Service GCs such as fielding client questions by email and telephone, verifying that appropriate testing was ordered, flagging clients that may benefit from education services by the sales team, participation in the variant testing program, and opportunities for patient post-test counseling.

Throughout the rotation, I was also tasked with an independent gene vetting project.  I was asked to collect data that would aid in determining whether a new gene is ready for clinical testing or requires further research.  At the end of the rotation, I presented my findings to the members of the Inherited Cancer program.

Overall, this was an exciting and unique opportunity for an optional rotation that provided exposure to an area of genetic counseling that is experienced less often in the classroom and clinic-based rotations.

-Bess Wayburn, class of 2016  

Saturday, November 21, 2015

Whole Exome Sequencing Clinic Optional Rotation

As some of my fellow classmates have previously mentioned, we each have the opportunity to choose an optional clinical rotation in a specialty area that is of interest.  I elected to learn more about the targeted exome sequencing that is ordered at the Children’s Hospital of Pittsburgh (CHP) by working with Marianne McGuire, MS, CGC.  Targeted exome sequencing looks at the entire exome of a patient, but the laboratory then only reports the variants and pathological findings in genes associated with the phenotype (or physical symptoms) of that patient; this approach cuts down on incidental findings.

The majority of the time spent during this rotation was dedicated to researching the variants and pathological findings in the reports from the laboratory.  This requires the utilization of a variety of resources.  For starters, I performed a thorough review of the patient’s medical history and what testing had been performed  in order to know how relevant certain suspected syndromes were within the context of that individual’s medical history.  Next, I researched the altered genes and their associated syndromes. 

The resources I used most often were the Online Mendelian Inheritance in Man (OMIM) database, mutation-specific PubMed articles, and GeneReviews.  To learn more about the specific genetic change, in silico models such as MutationTaster were utilized.  Another commonly accessed resource was the ClinVar database, which is built by laboratory data to help clinicians research the changes found in their patients.  Using all of these resources and the patient’s history, I sorted the reported variants into those that were not likely causal and those that were likely causal for the patient’s condition.  After this process, all of the variants and research were presented to the ordering geneticist and he/she suggested additional testing and referrals that needed to be performed based on the findings.  All of this research and collaboration was made into an individualized presentation for each patient and their family for when they came in for a genetic counseling session to discuss their results.  To wrap up each case, a summary letter was created for the patient and their team of physicians detailing the variations seen and the diagnoses found.

Another unique experience I had during this rotation was to enter patient physical findings into an established research database for those patients who were diagnosed with a specific rare syndrome based on exome testing.  I also had the opportunity to reach out to some of the previously diagnosed families to see if they’d be willing to speak with a newly diagnosed family about their child’s experiences since diagnosis.

This was certainly an incredible opportunity to learn more about an amazing testing process, and some unique disorders.

-Erin Winchester, class of 2016

Wednesday, November 4, 2015

2015 National Society of Genetic Counselors Annual Education Conference

Recently, the genetic counseling students attended the National Society of Genetic Counselors (NSGC) Annual Education Conference.  Here are some thoughts from our second year students about their first NSGC conference!

"Meeting so many successful and experienced counselors and being able to discuss varying aspects of the field with them, as colleagues, was very empowering.” - Erin

“I was amazed and inspired by Kristen Powers, and her documentary entitled “Twitch.” Kristen shared her journey to get tested for Huntington’s disease, and had very thoughtful answers to the questions posed by audience members about her experience.” – Amy D.

“I was surprised by how much fun I had! I met so many incredible genetic counselors ranging from new graduates to experienced pros, being surrounded by so many amazing and accomplished people was absolutely inspiring. I am so grateful and excited to be a part of this field” –Nikki

"I was very inspired by the lecture about Roe vs. Wade and Down Syndrome Information Acts. It was so intriguing to hear from a panel of experts that included a lawyer and English professor. As a student who is interested in law and ethics and how they interact with genetic counseling, the interdisciplinary lecture was a perfect fit! By the end, most of us in the audience had shed a few tears and felt a true call to action to advocate for our patients.” -Becca

The conference in general was a great chance to meet GCs from around the country. Everyone was so friendly and excited to share advice with new grads as well as encourage us to apply for job opportunities.” 
–Amy B.

"The educational breakout sessions had a large variety of intriguing topics. It was an amazing experience to hear individuals at the top of their field explain revolutionary topics, debate ethical implications of technologies, and have general discussions regarding current and future practices. It is inspiring to see where our field has come from and what the future holds.”–Kerrianne

“I really enjoyed the session on CRISPR. The presenters raised many of the ethical debates and technical challenges of a new gene editing technology that may have a huge impact on the field. It’s important for GCs to be aware of these issues so they can be part of the conversation and help direct how this technology can be used responsibly.” 

“The NSGC conference really made me feel encouraged by the growth of the field. It was so great to see that there are many genetic counseling jobs out there and that they WANT US! It is a nice reminder that we have worked hard, and all have a very bright future ahead with endless opportunities.” –Kelly

“I enjoyed having the opportunity to hear from and talk to so many genetic counselors in various specialties with a variety of backgrounds. Being in the environment itself, surrounded by people who are so interested in genetics and the advancement of genetic counseling was a unique and fun experience.” -Laura

“I really enjoyed the lecture on newborn and fetal exome/genome sequencing and the ethical implications that these useful technologies have in that setting. It applied to my thesis, but was also just generally interesting”. – Tricia

“I thought Dr. Austin’s address was up-lifting and powerful. It was inspiring to hear such a strong woman’s vision for the future of NSGC and the field of genetic counseling.” - Kristin

Friday, October 16, 2015

Prenatal Exome Sequencing – Are We Ready?

In recent years, exome sequencing has become an important diagnostic tool in genetics. Analyzing the protein-coding region of the genome, this test examines the majority of disease-causing genes to identify disorders that would otherwise be missed in individuals with multiple features not characteristic of one particular syndrome or condition. However, with the scope of such a complex test comes the possibility of genetic variants of uncertain clinical significance (VUS) and incidental findings unrelated to a patient’s clinical presentation. This complicates genetic counseling by adding more time, paperwork, and complexity to the consent and disclosure processes.

While not currently available in the prenatal setting, it is likely that exome sequencing will soon be available to prenatal genetic counselors. My thesis research focuses on how prenatal and laboratory counselors feel about the possible implementation of prenatal exome sequencing, and what factors influence those opinions. My goal is to assess in what situations they feel prenatal exome sequencing would be appropriate and to see if any discrepancies exist between the prenatal counselors, who are seeing patients in a clinical setting, and laboratory counselors, who are researching variants and writing reports that eventually go back to the clinic.

I developed my thesis project with assistance from my coworkers at the genetic testing laboratory where I worked prior to graduate school and my mentors at the University of Pittsburgh. Through developing my survey, I’ve learned important skills. Reviewing literature has helped to guide the survey creation process, and I’ve learned about specific ways in
which survey questions are coded to help ease the process of statistical analysis, such as creating questions that follow a “Likert scale”, e.g. Please rate how much you agree or disagree with the following (1=strongly disagree,  5=strongly agree).

In addition, my thesis has forced me to think about my own opinions regarding this testing, and to confront these opinions to help structure the questions in the best possible manner. I hope that the results of this survey will help to identify problem areas that should be addressed before prenatal exome sequencing is offered by labs, as well as to show any similarities or differences that develop from working in clinic versus working in the lab in regards to opinions of new testing implementation.

-Tricia Zion, class of 2016

Friday, October 2, 2015

A PhD in Human Genetics with a Focus in Genetic Counseling

The University of Pittsburgh Genetic Counseling Program is unique and sets itself apart from other programs in many ways, particularly through the opportunity to apply for the PhD program in Human Genetics with a focus in genetic counseling. The PhD provides a research supplement to a genetic counseling degree and broadens career opportunities.

Prior to entering the University of Pittsburgh Genetic Counseling Program Class of 2015, I enjoyed years of undergraduate research experience in basic science. Excited to learn about clinical research, I began my graduate work in the Division of Gastroenterology, Hepatology, and Nutrition with my mentor, Dr. David Whitcomb. My thesis work and clinical training encouraged and challenged me to consider the future of genetics in medicine and the genetic counseling profession in this ever-evolving field. My thesis focused on describing hereditary pancreatitis in the United States, but I was given the opportunity to also contemplate the role of genetic counselors in the management of complex disorders – diseases caused by multiple gene-gene and gene-environment interactions. While hereditary pancreatitis is inherited in a traditional Mendelian autosomal dominant fashion, the severity and complications of the disease vary widely and are influenced by numerous genetic and environmental factors. My experience fed my interest in complex disorders and personalized medicine, as well as my passion for research.

Although I am in the early stages of my PhD education, I am already enjoying the challenges and opportunity to learn more in-depth information of topics covered in the Genetic Counseling Program, whilst broadening my understanding of and contribution to the literature. These are proficiencies that will expand my career scope and better prepare me to make valuable contributions as the field forges onward. I am further inspired by the department’s mission and vision to prepare its graduates for the future of genetics in medicine, as well as take an active role in the development of these advances. Though the future is ever-changing, I am confident that whatever direction my career takes me–be it academic, research, clinical, or industry–I will be well prepared from my training here at the University of Pittsburgh.

Following my graduation from the Genetic Counseling program this past spring, I had the unique opportunity to take a job with Dr. Whitcomb to continue my research on hereditary pancreatitis and join a small team operationalizing a new innovative study focused on personalized medicine for complex disorders. Encouraged to pursue my interests in research through additional graduate training, I seized the opportunity to apply for the Human Genetics PhD program with a focus in genetic counseling. As a graduate of a genetic counseling program, I have already completed the majority of the required coursework and was drawn by the ability to focus on my research and take classes of particular interest to my work. 
-Celeste Shelton, class of 2015

Friday, September 18, 2015

Gastroenterology Clinic Optional Rotation

For one of our 3 or 4-week rotation blocks, second year students are able to pick a site that interests them.  I have an interest in cancer genetic counseling and wanted more exposure to GI cases.  For my optional rotation, I chose a rotation with Beth Dudley, MS, MPH, LCGC and Randall Brand, MD at the Cancer Genetics program at UPMC Shadyside in the Gastroenterology (GI) department.  In this rotation, I had the opportunity to counsel patients for polyposis, pancreatic cancer, and Lynch Syndrome.  I was also able to observe Dr. Brand perform colonoscopies, endoscopies, and pancreatic endoscopic ultrasounds (EUS).  Observing the procedures helped me to fully understand the screening procedures and have the confidence to discuss them with patients.  My favorite part of this rotation was the opportunity to see and participate in the full role of a genetic counselor starting from case prep and ending with the results disclosure and patient letter.  I prepped for cases by calling the patients and obtaining their medical and family history.  I then researched pertinent information based on the differential diagnosis and composed educational materials for the sessions.  I counseled the patients with Beth, and after the sessions, briefed Dr. Brand on the patient and then shadowed Dr. Brand during his discussion with the patient.  After the sessions I assisted Beth in sending the samples out to the testing labs and wrote up progress notes that summarized the counseling appointments and Dr. Brand’s appointments.  I loved that I was able to come in from time to time during my next rotation to call out the results to patients and then write results letters to patients.  This optional rotation was a great opportunity that allowed me to see more GI cancer cases and further develop my cancer genetic counseling skills.

-Laura Cross, class of 2016

Thursday, September 3, 2015

Tips for first year students!

The class of 2016 shares some helpful hints for the incoming class as they begin the Program:
"Get to know your classmates and greater graduate student community by attending one of the awesome Welcome events hosted at the start of first semester." -Amy D.

“My advice would be, don’t wait until the last minute to study, especially for the most complex classes. Keeping up with the material will really pay off in the long run. Approach studying as ‘what do I need to know to be a good genetic counselor?’ rather than ‘what do I need to know to pass the test?’”

“Use your classmates and instructors as the valuable resources that they are; everyone has unique views and embracing that can only improve your experience.”

“It can be really easy to become overwhelmed by the amount of work ahead of you. Don’t lose sight of your personal motivations for becoming a genetic counselor, those reasons can really help you to refocus if you start to worry about getting it all done. Also, keep tabs on your print allowance; you will use more than paper than you ever imagined.” –Nikki

“Don’t be afraid to make mistakes, but rather embrace them as learning experiences. You won’t be experts when you first start, but you will get there.” –Kristin

“You may have heard this before, but it’s true and it’s a big one: self-care is essential! Grad school is challenging and stressful, so find quick activities that will help you de-stress. Whether it’s hanging out with your classmates (or favorite second years!), going for a hike or run, watching a silly you-tube video, skyping a friend from home, popping bubble wrap, or taking a power nap. Find something that really works for you, and don’t feel guilty taking some time for yourself! You’ll be able to get so much more done if you’re relaxed.” -Becca

"Always keep an open mind. There are so many fields within genetic counseling and it’s easy to come into the program with a bias toward a certain specialty. You won’t know what you truly love until you’ve seen and experienced everything first hand. Unique experiences in your classes and rotations can impact your career path in ways you’ve never imagined.”-Kerrianne

"Keep a separate notebook or computer file of all the genetic syndromes you learn in classes, it'll really help you out in the second year as well as when you start studying for boards." -Laura

-Our second years, the class of 2015!

Being in this program fosters a sense of comradery among your classmates and alumni. Take advantage of alumni as resources and keep your eyes on the end result: the rewarding work of being a genetic counselor!” –Amy B.

“Take advantage of all the free or reduced price perks that come with a Pitt ID. Walk over to the Carnegie Art and Natural History museums during a long break between classes or over to the Phipps Conservatory in Schenley park. Both are close to campus and free to students. Head downtown on the weekend to see a play or listen to the symphony for only $15. Whatever you chose, take some time to enjoy the city.” -Bess

"Two years goes by really quickly, relish in the little things, shenanigans with classmates, and the beautiful fact that you are entering into an amazing profession, passion, and community." -Kelly

Friday, August 21, 2015

A Dual Degree with an MPH in Public Health Genetics

The dual degree in Genetic Counseling and Public Health Genetics bridges the focus on individuals and on populations so that graduates are poised to bring the patient perspective to the development of legislative policies, guidelines and screening programs. 

Programs like newborn screening and cancer screening are public health programs, and as genetics becomes more ubiquitous in medicine, these types of population level programs are likely to become more plentiful and genetic counselors (GCs) can play a big role in their design and implementation.  

The dual degree program at Pitt can be completed in 2 years of full time study with a couple summer classes or in 3 years when a student starts in the Public Health Genetics program rather than the Genetic Counseling Program.  There is a great deal of flexibility in how the program is organized, and there is room to take some electives as well. Even if completed in 2 years, the courses are spread out in a way that the extra workload is very manageable.  In fact, it can be a nice change of pace to attend lectures on subjects outside of the genetic counseling field. 

In addition to a thesis project for the Master’s degree in Genetic Counseling, an essay must be completed on a practicum in Public Health Genetics for the MPH.  Often the thesis and practicum can be combined into the same project. Almost any project relevant for a genetic counseling master’s thesis could be extrapolated to the population level so doing the dual degree shouldn't limit the choice of project. Many people can even add a chapter to their thesis to discuss public health applications rather than writing a separate essay. An MPH is not necessarily required to work in public health genetics, but it may make graduates more competitive and create exciting, new opportunities for genetic counselors. 

-Bess Wayburn, class of 2016

Friday, August 7, 2015

My Thesis Experience

Recent studies have examined the feasibility and psychosocial implications of a population screening approach to test for mutations in genes associated with hereditary cancer syndromes.  I have a personal interest in the field of cancer genetics, and wanted to have a thesis project that related to recent research in this field.   For my thesis project, I worked with my committee to develop a survey to elicit the interest of people in the general population in accessing a genetic test that analyzes genes related to hereditary cancer syndromes.  The survey also asks questions related to the psychosocial implications of this type of genetic testing, and how people would react to possible results. 

Prior to conducting my research, I needed approval from the Institutional Review Board (IRB).  I had never written an application for the IRB before, and it was a great learning experience to see how it is necessary to have the logistics of the study thought through before IRB approval will be granted. Designing a research study and submitting an IRB application can be quite challenging, but also rewarding.  I now have the knowledge of setting up a research project and can use this experience in my future career as a genetic counselor.

One of my favorite parts of my thesis project so far has been submitting an abstract for the American Society of Human Genetics (ASHG) conference in October.  Using the preliminary results of 240 responses to the survey, I wrote an abstract, which was accepted for a poster presentation at the ASHG conference.  Throughout the process, I had the support and assistance of my research mentor, Dr. Dietrich Stephan, and our program directors, Dr. Robin Grubs and Dr. Andrea Durst.   I look forward to the opportunity to present the results of my thesis at the conference in Baltimore!

-Laura Cross, class of 2016

Tuesday, July 28, 2015

Favorite Things To Do In Pittsburgh

The class of 2016 share some of their favorite activities in Pittsburgh that they like to engage in while taking a break from their studies.

“My favorite thing to do is train for Pittsburgh races (The Great Race, Half marathon) by running through our eclectic neighborhoods and Moraine State Park…And grabbing a craft beer at Church Brew Works. I also get a season pass to musicals that come through town which is $150-200 for 7 shows throughout the year!” –Amy B.

“I love going to movies and shows in the area. Local festivals are always a good time, and there are a ton of them, like Little Italy and Picklesburgh! There’s plenty of pretty unique things to choose from in the city” –Laura

“I enjoy biking Pittsburgh! There are 4 large parks within a 15 minute ride of my house, bike lanes on most roads, and trails along the river that take you to the stadiums. Grad students also get discounts to sporting events, so I have season tickets to Pitt football!” –Kerrianne

“I love hanging out in the Strip District on the weekends. Lots of ethnic markets, street food, outdoor vegetable stands and a great place to grab brunch while people watching.” –Bess

“I love kayaking along the Pittsburgh rivers! It is the best blend of the great outdoors and the city life Pittsburgh has to offer! I also love all the charming, quirky things Pittsburgh has to offer, such as Cinema in the Park, where every Saturday and Wednesday night during the summer there is a movie playing in parks across the city!” –Kelly

“Pittsburgh is all about its sports teams! The city is filled with super fans and it’s fun to go and be a part of one of the city's passions. Not to mention the awesome fireworks at the Pirate's games.” –Erin

“I like that there is always some sort of festival or activity going on in the city, especially during the summer. There is really something for everyone from free concert series like Jam on Walnut in support of the CF Foundation to more unique things like Picklesburgh and the Three Rivers Arts Festival. I also enjoy keeping track of how the Pens are doing and I hope to make it to a game or two in the next year.” –Kristin

“My favorite place to visit is definitely Randyland!! Closely followed by going up the incline and watching the sun go down on the skyline. That's followed closely by getting lost in the trails of Frick Park. I also went to Book of Mormon last fall, and the theater was beautiful and the show was amazing, so that's definitely on the list.” –Becca

“My favorite non-food related thing to do is probably the museums. Especially the Andy Warhol museum. It always has a featured exhibit from an outside artist that’s usually pretty cool.” –Tricia

“My favorite thing to do to take a break from the program is to get out of the city. There are national and state parks close enough to Pittsburgh to take a day trip: you can hike, bike, kayak, raft, etc. Ohiopyle is a favorite of mine, its trails are part of the Great Allegheny Passage which can take you all the way to Washington D.C.! The towns along the way are so charming and often have roadside farm stands, local treats and really great antiquing.” 

“I enjoy going to the cultural district in downtown Pittsburgh, and attending musicals, operas, the ballet, or the symphony. Downtown is very accessible by bus, and grad students get really good rates on theatre tickets.” –Amy D.

-Some of our second year students at Mad Mex, voted as one of the top restaurants in “The Best of the ‘Burgh 2015”.

Tuesday, July 7, 2015

CABS Clinic Optional Rotation

For my optional rotation, I spent three weeks in the Children and Adolescent Bipolar Spectrum Services (CABS) clinic. This clinic is staffed by psychiatrists, social workers, and nurses who help to diagnose children and adolescents with Bipolar Disorder in order to provide them with appropriate care and early intervention. The CABs clinic offers both inpatient and outpatient treatments, and is involved with a number of different research studies. The BIOS Family Study is one such research study that is investigating the recurrence risk of Bipolar Disorder in children of individuals with Bipolar Disorder.

Throughout my rotation, I was able to acquire a greater understanding about psychiatry and observe different family dynamics. It was often difficult to appreciate everything that was going on with a family during a short appointment visit, and information gained overtime from multiple sessions was very helpful to best understand patients’ mood patterns. Assessing how the parent was doing during a follow-up session was a good indicator of how a child had been doing at home.

In many instances, it was beneficial to speak separately with different family members to learn more about how the child was doing based on different perspectives. I had the opportunity to observe the varying strategies that clinic staff used to facilitate conversations between family members and to engage everyone in a counseling session.

Like any medical condition, patients with supportive parents or family members seemed to do better with managing stressors, and learning different problem solving and coping strategies. When multiple family members, such as a parent and child, were affected with Bipolar Disorder or another mental health condition, it was often more difficult for the child to manage their symptoms. The importance of assessing the health and well-being of a care giver is essential in all areas of health-care, including genetic counseling.

This rotation gave me the opportunity to observe different assessment and counseling techniques that are transferable to genetic counseling. At the end of my rotation, I gave a presentation to the clinic staff where we discussed psychiatric genetic counseling as well as risk communication with patients. This rotation was a great experience, and I would like to say a big thank you to all of the wonderful staff at the CABS Clinic!

To learn more about the CABS Clinic in Pittsburgh, which is one of the first clinics of its kind in North America, visit

-Amy Davis, class of 2016

Wednesday, June 24, 2015

Clinical Rotations - Reflections from a Pitt GC student

Doing anything for the first time can be a challenge, and for many of us (especially novice genetic counselors) it can be difficult to allow yourself to make mistakes. At the end of April my classmates and I prepared to begin rotations. At Pitt we spend our first year in the classroom, and at the start of May through the following March we spend the vast majority of our time in rotations.  What this means for those of you who are perfectionists with high personal expectations, like me, is this: even armed with all of that new knowledge, you will not be an expert counselor when you walk through the door of your first or even your second rotation.

I spent a lot of time fretting over this concept, worrying and rehearsing what I would say (the rehearsing part is actually very helpful!). I went into my first rotation nervous and a little afraid; I wondered often: what if I say the wrong thing? What if I scare the patient? Or worse, what if I make them cry? My first day counseling patients was definitely frightening, and I certainly was not an expert. I stumbled through my first explanation of chromosomes, and my explanation of how a patients’ family history can contribute to their risk is still evolving. What I did learn is that we all have to start somewhere, and if you are afraid to be a beginner you can’t learn anything new either. I also found that the counselors are there to help, and I have felt this from each counselor I have come across. They give excellent feedback and are sincerely invested in our success. They often helped me craft a better way to explain things when I got stuck; they were also open and willing to share their own struggles as a student.

In short, I survived and so did all of my patients. In the process I also learned quite a bit about how to counsel patients, tears and all. Even more importantly, I found that when I didn’t take on something new I felt a little stuck and uncertain. Trying new ways to explain concepts helped to boost my confidence, and I was excited to see the next patient so I could try out my new skill. Many of us enter this field because we want to share what we know with others to help them make decisions, but the trick is that we have to allow ourselves to be new, to accept that we do not know everything, and that if all else fails, the counselor is there as a safety net.

-Nikki Walano, class of 2016 

Friday, June 5, 2015

NYMAC Summit 2015

I was very fortunate to attend the New York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC) Summit 2015 from May 28-29 in Baltimore, MD. NYMAC is one of seven regional collaboratives within the United States that aims to improve access to genetic services for families affected by heritable disorders.

More than 30 speakers including parents, genetic counselors, geneticists, physicians and other health-care providers, policy makers, and additional stakeholders such as public health professionals and LEND faculty presented a wide range of topics that focused on overcoming barriers that prevent individuals and families from receiving genetic services.

Some of the themes that emerged from the conference included improving interdisciplinary care for patients through better communication between providers, addressing language and cultural barriers that may prevent individuals from accessing genetic services, evaluating different educational resources available for families to improve their quality of care, implementing distance strategies such as telemedicine models, and using genetic technologies on a population-based scale.

I especially enjoyed hearing about family perspectives from parents who have a child with a genetic condition. These individuals have become extraordinary advocates for children with special health care needs and their families, and have been involved in creating resources and programs to help other parents and families. When designing new policies to improve patient care, it is essential to understand parental perspectives because parents are the main healthcare provider in their child’s “medical home”.

During the breakout sessions, I attended the Primary Care and Linkages Workgroup session regarding interdisciplinary care. We discussed inclusion and diversity, and the importance of self-perception when providers consider the definition of “cultural humility”. Faculty from the University of Pittsburgh discussed the LEND program as an example of how to incorporate genetic education and the concept of family-centered care into a training program for future health-care providers.

Lastly, it was impressive to see the collaboration between numerous different stakeholders, and the different roles that genetic counselors can have within this multi-disciplinary public health team.

My participation in the NYMAC 2015 Summit was made possible by the NYMAC-Genetics Public Health Fellowship program. This program provides graduate level education to genetic counseling and LEND students, in order to create future leaders in genetics, and improve advocacy for the translation of genetic information and services in the public health realm.

For more information about the NYMAC-GPH Fellowship Program, please email Kunal Sanghavi at

 -Amy Davis, class of 2016

Saturday, May 30, 2015

Utilization Review Optional Rotation

I have had the unique opportunity of being the first University of Pittsburgh student to complete an optional genetic counseling rotation block in the Utilization Review Program within the laboratory at Children’s Hospital of Pittsburgh. Essentially, the genetic counselors working in utilization review are a bridge between physicians requesting inpatient genetic testing, and the hospital which absorbs the cost of uncompensated care. The utilization review team has taken up the complex task of working with physicians to ensure if requested genetic testing is 1) appropriate for the patient, 2) medically actionable in the inpatient setting, and 3) if not medically actionable, then to question whether testing could be deferred to the outpatient setting. This effort has saved the hospital approximately $100,000 in the program’s first year alone, allowing the savings to be redirected to fund other projects. 

This non-traditional rotation has highlighted the multifaceted political and psychosocial dynamics at play between medical and business stakeholders of genetic testing. Utilization review has truly demonstrated the delicate balance that must be maintained between what is best for our patients, what is the best use of our resources, what is medically necessary, and our desire to provide genetic answers to each patient. This opportunity has challenged and taught me, specifically in a way that has given me a new perspective on both the cost and utility of genetic testing. My optional rotation has allowed me to experience a rapidly growing branch of genetic counseling and will truly benefit me as I enter the work force.

-Kelly Johnson, class of 2016