12.07.2017

Elective Rotation: Informed Consent and Biobanking

Second year students in the UC/CCHMC GCP who are on track to complete their clinical logbook requirements are given the option to develop their own elective rotation. Students choose these rotations based on their interests or skills they would like to obtain. Along with input from program faculty, they develop the learning objectives and outcomes for their rotation. Previous elective rotation posts were about the International Adoption Center, StarshineHospice, Psychiatry, and Bioethics.

How are biobanks regulated? What information are patients provided during the informed consent process for biobank research enrollment? What is discussed when reviewing biobanking research protocols at an IRB meeting?

I learned about biobanking through lectures in Human Genetics and Emerging Topics in Clinical Genomics during my first year of the program. Genetic counselors are often asked to facilitate consent for research protocols involving genomics, as well as for participation in biobanks. Biobanks offer opportunities for researchers to access many patient samples and clinical data to facilitate research into therapeutics, natural history of disease, how genetics may influence disease states, etc. Genetic information is often collected, de-identified, and stored as part of this process. However, there is ongoing debate as to if and how genetic variants found through biobanking should be communicated to study participants.

Through networking with faculty members at the University of Cincinnati and Cincinnati Children’s Hospital, I set up a rotation with Dr. Kelsey Dillehay McKillip, Director, and her team at the University of Cincinnati Biorepository, as well as Dr. Mike Linke, IRB Chair, with the University of Cincinnati Institutional Review Board (IRB). At this time, the UC Biorepository is mostly composed of blood, urine, tumor and paired normal tissue samples from patients with solid cancers. The UC IRB has 20+ members with various professional backgrounds including biobanking, medicine, sociology, etc. The UC IRB meets every week for about two hours. Each IRB meeting was composed of at least eight different IRB members.

During my rotation, I observed the biobanking process from start to finish including screening patients to determine who met eligibility criteria, talking with eligible patients during the informed consent process, collecting and processing blood or tissue samples, and dispensing samples to researchers who have IRB approval for research that utilizes UC Biorepository specimens. I also attended UC IRB meetings where investigator-initiated biobanking protocols were discussed. The UC Biorepository is a core facility that supports basic scientists at UC and CCHMC, however there are also separate investigator initiated research protocols that can involve biobanking as well. Finally, I revised and consolidated multiple informed consent documents for different sample types into a universal consent document. Currently, if patients have different types of cancers, they are asked for their consent to participate in biobanking research for each individual cancer during their clinic visits. Therefore, the ultimate goal was to create a clear and concise consent form that would allow patients to provide consent once and provide multiple sample types for biobanking research in the future. The use of a universal consent form not only facilitates research, but also increases efficiency during patient clinic visits if patients only have to talk with one member of the research team at one time point.

Related to my knowledge in genetics, I was specifically tasked with adding language to the consent about how participants’ genetic information may be handled, as well as specific laws that protect this information (such as GINA: Genetic Information Nondiscrimination Act). Further, I conducted a literature review about how changes in human subjects research policy impacts genetic information and the informed consent process. The majority of biobanks, including the UC Biorepository, do not report genetic research findings to participants. However, there is debate within the research community about the most ethical way to handle and store genetic information and whether it should be communicated to research participants.

My experience with the UC Biorepository team and the UC IRB will allow me to better explain the biobanking process to patients and anticipate questions an IRB may have about a research protocol that involves biospecimen collection. I thank Dr. Kelsey Dillehay and Dr. Mike Linke, as well as the UC Biorepository team members including Matt Koch, Farah Sagin, MS, and Karen Winstead for their time and supervision.

I am thankful that the UC graduate program encourages students to take responsibility for their education and seek opportunities that foster their personal and professional growth. Further, I thank my classmates and program faculty for facilitating my interests into action throughout my graduate career at UC.


--Kristen Fishler, Class of 2018

7.10.2017

NSGC "Prospectives in Genetic Counseling" newsletter

The National Society of Genetic Counselors (NSGC) Student/New Member SIG has put together the third edition of their "Prospectives in Genetic Counseling" newsletter, which is geared toward prospective and new genetic counseling students.  It includes articles by recent alum Sarah Chadwell and current student Stacey Aldrich.  Check it out here:


Prospectives in Genetic Counseling Newsletter

5.25.2017

My Experience as a Second Year Genetic Counseling Student

One of the strengths that I have perceived within the Genetic Counseling Program at Cincinnati Children’s is the wealth of opportunities we have as students here. The first year of the training program is relatively academically heavy with significant coursework, group assignments, research experience, and clinical exposure. The second year of training offers more flexible time and an ability to truly tailor our learning experience. Over the last year, a variety of experiences and opportunities have shaped my professional and personal growth and I wanted to take some time to share that with all of you. Here is a short summary of some of the things I’ve done over the past year and a few pictures as well: https://jmshank.weebly.com

I had the privilege to be a LEND trainee in my second year. LEND stands for Leadership and Education in Neurodevelopmental and related Disabilities. It is a federally funded program which seeks to cultivate leadership skills within clinical and non-clinical members of the disability community. Through LEND I gained an understanding of my own leadership skills and abilities while exploring how those skills fit within the greater context of advocacy and disability policy. The LEND program at Cincinnati Children’s this past year consisted of 24 trainees from 13 different disciplines. Attending classes and working on projects with the other LEND trainees has given me a broad understanding of multiple disciplines and how genetic counseling fits in the greater medical field. LEND afforded me many opportunities to travel for conferences and service trips as well as setting a foundation for lifelong learning and growth through work within the disability community.

Throughout the year I also attended a variety of conferences and experiential learning events. Specific to genetic counseling, I attended the Ohio Genetic Counselor’s conference in Cleveland and the National Society of Genetic Counselor’s conference in Seattle. We also had the chance to attend a bereavement conference in Columbus with other genetic counseling program students from the Midwest area. Related to my work with LEND, I was able to spend a week in Nicaragua working with a developmental pediatrician and a speech team. Our LEND cohort also took a trip to Columbus, the Ohio state capitol, to meet with our legislators for Disability Awareness day. We discussed up and coming bills and developed our own ways to tell our stories and advocate for our patients and their needs.

I also had the opportunity for non-clinical training opportunities. I was able to rotate in our lab at Cincinnati Children’s to gain an understanding of genetic testing technologies and methodologies. I worked with genetic counselors writing reports and interpreting variants in both the molecular and cytogenetic labs. Additionally, I was able to visit Myriad Genetics the summer before my second year which gave me hands-on exposure to industry and oncology genetics.

I am so grateful for my time at Cincinnati Children’s and the experiences I can take with me in my career. You get out of life what you put into it, but it comes back so much fuller. My second year of training has given me confidence in my skills and broadened my perspectives towards genetic counseling and the healthcare field as a whole. With a foundation set in strong clinical, practical, and relational skills as well as the ability to facilitate my own lifelong learning I couldn’t be more excited for my future. 

--Jessica Shank, 2017 graduate

6.06.2016

Traveling to Nicaragua

Hola!

A couple of months ago I embarked on a journey to Managua, Nicaragua with a team from Cincinnati Children's Hospital Medical Center (CCHMC) to help provide different types of services, education, and support for children with disabilities and their families. You might ask how I got here…so let me back up.

As a second year genetic counseling student, I am a trainee in the LEND Program. LEND stands for Leadership Education in Neurodevelopmental and related Disabilities. This program is designed to train culturally competent, family-centered interdisciplinary leaders who will strive to improve the health of infants, children, and adolescents with or at risk for developmental disabilities. Trainees are afforded many opportunities through LEND during the year and traveling to Nicaragua was one opportunity that sparked my interest. I decided to apply, which consisted of an essay submission, and was offered a spot on the team. Ecstatic and terrified all at the same time, I committed and began planning. 

February arrived sooner than I had anticipated. Before I knew it, I was sitting on the plane from Houston to Nicaragua with different thoughts flooding my mind. What should I expect upon arrival? Would I be accepted by the people of Nicaragua? How will the language barrier impact our team’s goals? And most importantly, would I be able to help? Although CCHMC has a longstanding relationship with Tesoros de Dios (http://www.tesorosdedios.org), the organization we worked with, a genetic counseling trainee had never gone on this trip before.


After a long Saturday of traveling, we arrived in Mangua and settled into the guest house. Sunday was well spent exploring Granada, gathering souveniers, and eating a lot of plantains. I remember looking out at the lake and thinking to myself, “This is where I’m supposed to be.”

The next five days were a whirlwind. I was paired with Dr. Susan Wiley, co-director of the Division of Developmental and Behavioral Pediatrics at CCHMC and developmental and behavioral pediatrician. We saw new visits and follow-ups and I even counseled parents of patients while their child was receiving physical or speech therapy. I saw a variety of patients with different genetic conditions, including Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 21, Joubert syndrome, and others. I assessed parents’ perception of disability and offered psychosocial support to patients and families as needed. Due to cultural and social misconceptions about disability, there were often tears when I provided recurrence risk or limited liability.

In addition to the clinical focus, I contributed to a Developmental Disabilities Seminar with Dr. Wiley at University of Nicaragua-Managua. We spoke with professors, healthcare providers, and others in attendance about the field of developmental disabilities and sharing unexpected news with parents. Everyone was very warm, welcoming, and receptive to the information.

One of my goals for this opportunity was to recognize the role genetic counselors can play in the field of international disability and better understand the challenges individuals with disabilities and their families face in other countries. There is a lack of resources in Nicaragua in general, not to mention for those with disabilities. With only one genetic specialist, genetic testing is widely unavailable unless a patient travels to another country for services.

Another one of my goals was to gain more experience with other healthcare providers and specifically in the setting of international disability. I was able to observe psychologists, physical therapists, speech/language pathologists, and others provide services and recommendations to the patients as well as the staff of Tesoros de Dios. I know that the knowledge I gained there can be applied to the patient care that I will provide in the U.S.

The Nicaragua travel opportunity truly provided a basis for understanding international disability challenges, the lack of resources many countries have, and how genetic counselors can potentially play a role in the field. 

--Randa Newman, genetic counseling student



2.08.2016

Elective Rotation: Psychiatry

Attention-deficit/hyperactivity disorder, bipolar disorder, generalized anxiety disorder, major depression, obsessive compulsive disorder, schizophrenia, and substance abuse/dependence.  These are all psychiatric illnesses and are all relatively common.  In fact, if you go through someone’s family history you will more than likely run across at least one family member with a history of mental illness.  But how many of them can be seen running in families and have a known genetic component?  If you said all of them, you are correct.

Most of our training as genetic counseling students is focused on less common diseases with better characterized genetics: cystic fibrosis, Lynch syndrome, neurofibromatosis 1 & 2, sickle cell anemia, etc.  However, we all invariably encounter families containing members with more common diseases, such as cancer, diabetes, heart disease, and, of course, mental illness.  While we do receive training in discussing the genetics of these conditions with patients, we rarely get to see patients for whom these diseases and how they affect their families are a main concern. 

Cincinnati Genetic Counseling Program
As a person whose life has been tremendously impacted by mental illness in many ways, I have been especially interested in learning more about these conditions. I was also interested in learning about the experiences of individuals and families affected by these conditions, including  ways to help people cope with mental illness and decrease the stigma surrounding mental illness.

One of the greatest aspects of the University of Cincinnati’s genetic counseling program is that we have the option to do an elective rotation in our second year.  An even better feature is that we have the opportunity and the support to create a rotation if we have a specific interest.  After discussing my interest in psychiatry with our program faculty, I talked to the director of the Division of Psychiatry at Cincinnati Children’s who was very interested in the idea of an elective rotation and helped me set up a 5-week observational rotation with a few psychiatrists.

During my rotation, I shadowed three psychiatrists in very different settings.  I was in a general pediatric psychiatry setting, the Tuberous Sclerosis clinic, and an inpatient unit for children with both psychiatric diagnoses and developmental disabilities.  I saw a total of 19 patients outside of the inpatient unit with a wide variety of psychiatric diagnoses, averaging three per patient.

I learned quite a bit about different psychiatric illnesses: how they are diagnosed, how they present, and how they are treated.  Along those same lines, I was able to create a resource for myself and others containing a list of commonly prescribed medications and what they are primarily used to treat.  During my rotation, I picked up as many resources as I could find in the form of flyers, newsletters, and pamphlets that are specific to the psychiatric services at Cincinnati Children’s.

I hope that my experience in psychiatry and in setting up the rotation will inspire others to pursue a similar rotation.  As psychiatric genetic counseling becomes more widespread, it will be easier for others to get involved in talking to families about the genetics of mental illness.  For now, though, I think it is important that we start that conversation with psychiatry and really show them our interest in merging the two fields.

- Meghann Reardon, second year student

10.27.2015

2015 Ohio Genetic Counselor Meeting

A few weeks ago, I attended the 2015 Annual Ohio Genetic Counselors Meeting along with my classmates Kait and Meghann. This was our first genetic counseling conference and we were excited to find out what was discussed and what the event would be like.

The conference was in Columbus and consisted of eight different 30-45 minute presentations. The presentations covered a variety of topics relevant to genetic counseling, including the newest therapies in development for muscular dystrophies, perinatal ethics, and new technology for biopsy free tumor sequencing and how it may impact cancer treatment. While it was a long day of sitting and listening to lectures, the short length of each one and the wide variation in topics kept the meeting engaging.

One thing that I realized while listening to the lectures was how much I understood. I was able to make connections to the patients I’ve seen and clinics I’ve rotated in. Only a year ago I was taking quizzes on medical terminology and just starting to learn how to take pedigrees. I can’t believe how much I have learned and grown in the past year.

During the break for lunch, we sat with a couple of our classmates who graduated last May and have now been working for a few months. This was a great opportunity to learn about the transition from graduate training into working and how that has been for them. We were also able to get advice about the job search process and studying for the board exam. The environment in the lunch room was loud and exciting, as many people had the opportunity to sit and talk with old classmates and colleagues who they had not seen since last year.

After the conference, we were also able to network with the genetic counseling students from Ohio State and Case Western who were also at the meeting. This was a very fun opportunity to learn more about their programs and discuss particularly interesting indications that we’ve gotten to see. 

Overall, I had a lot of fun attending the Ohio Genetic Counselors Meeting. It was a good learning opportunity to find out more about the topics presented and what a conference is like. In addition, I really enjoyed getting to feel part of a larger community of genetic counselors.


--Hayley Grandine, second year student

9.21.2015

Marfan Conference 2015

Me (left) and my sister, Madeline
Marfan syndrome, a rare connective tissue disorder, has impacted my life in ways that are both challenging and rewarding. Although I do not have Marfan, my father and younger sister were both diagnosed in 1999. Ultimately, growing up learning and teaching others about Marfan syndrome has allowed me to forge meaning from something that might otherwise be considered a misfortune. By my sophomore year of college, I discovered that genetic counseling is a perfect way to combine my personal experiences and love of science into a career. I am grateful to be involved in a career that can help others with genetic conditions live in a way that is meaningful. 

This year, I accompanied my sister to the Marfan Foundation’s annual family conference in Chicago, IL. The conference is an amazing four day event that includes free medical assessments, workshops, presentations from leading medical experts, and panels where participants can get their questions answered. This year’s conference had two special attendees – Isaiah Austin, the Baylor basketball player who was diagnosed with Marfan syndrome prior to his NBA draft in 2014, and Austin Carlisle, lead singer of the band Of Mice and Men, who also has Marfan syndrome. Having celebrities become involved with the Marfan Foundation has been helpful because the media attention has led to increased awareness and diagnoses that can save lives.

My 5'10" sister, Madeline, and her good friend, Andrea
For many attendees, the Marfan conference is an opportunity to connect with others who face the same challenges. My sister enjoys being around others who look like her and has formed many close friendships over the years. She particularly loves “feeling short” – at 5’10”, my sister is usually one of the tallest girls around, but at the Marfan conference she is below average height!

I attended several Marfan conferences as a teen, but this year was my first time experiencing the conference as an adult and also as a genetic counseling student. As a genetic counselor, I saw the conference through different eyes. I was much more focused on the educational aspects than in the past, although I certainly enjoyed catching up with old friends and meeting new people.

I attended several educational workshops during the conference. Topics of those workshops included genetic testing, heart-related care during pregnancy, staying fit with Marfan syndrome, and family planning options. During the sessions, I witnessed conference attendees share their personal stories about their diagnostic journeys and surgeries and listened to their questions and concerns. All of the information I learned and experiences interacting with conference attendees will be incorporated into sessions with future patients.

Attending an educational conference is invaluable way to obtain insight into what it is like to live with a genetic disorder and the wide variation in peoples’ experiences.  It gives you the opportunity to get to know people who live with a genetic disorder as individuals and friends rather than just a patient, an experience which I believe allows me to better empathize with patients. You will witness firsthand the power of support networks for those living with a genetic disorder. Many national support groups for various genetic conditions host annual conferences and I wholeheartedly recommend attendance for other genetic counseling students or practicing genetic counselors. Even more importantly, be sure to tell your patients about any conference that is offered for their diagnosis and encourage them to attend!

--Hannah Balka, second year student

2.06.2015

Attending the AUCD Conference

As a trainee in the Leadership Education in Neurodevelopmental and related Disabilities (LEND) program, I had the opportunity to attend the 2014 Association of University Centers on Disabilities (AUCD) Conference in Washington, DC. As a first time attendee at the AUCD Conference, I was not exactly sure what to expect, but I was excited for the opportunity to expand my knowledge in issues related to disability, policy, and advocacy. I learned a lot from the scheduled events as anticipated, but I didn’t realize how much I would also learn from the diverse group of attendees at the conference.

While at the conference I was able to hear panelists discuss engaging the public in disability issues and the future of education, employment, and community living for people with disabilities. As panelist Emily Ladau stated, “The disability community is talking a lot to itself, but now we need to make disability more accessible to the community.” One method discussed involves making disability more visible and personal to community members. If people are more aware of their own relationships with individuals with disabilities then they will be more invested in disability issues. I found this discussion to be especially interesting because it had many parallels to the awareness that is needed for genetic conditions and related genetics issues in the community. Besides hearing from the panelists, various sessions reiterated to me the importance of genetic counselors communicating and promoting awareness about genetic conditions in the community and to other disciplines. I even gained some ideas for engaging diverse stakeholders to achieve this goal.

Overall, attending the 2014 AUCD Conference was a wonderful opportunity to better understand the current practices and policies that affect the healthcare and well-being of people with disabilities, as well as to learn what disability policy might look like in the future. This conference also inspired me to become more involved in advocating for individuals with disabilities and genetic conditions in the future. A remarkable group of individuals attended the AUCD Conference and I am honored to have been among them.


--Caitlin Campbell, Second Year Student

11.21.2014

First Year GC Students Have Some Fun

While their second years were away at the NSGC Annual Education Conference, the class of 2016 got creative and made this fun video.  

11.13.2014

GC Internship Experience in an Industry Setting

This summer I had the privilege of completing an internship with the company Counsyl for five weeks in San Francisco, California.  Counsyl is a medical technology company that made a name for itself with its Family Prep Screen expanded carrier panel, which screens for over 100 different autosomal recessive and x-linked conditions.  This was the first year that they offered a competitive genetic counseling internship.  They requested my CV and two personal statements followed by three Skype interviews: two with genetic counselors with directorial roles and one with the Chief Scientific Officer. I was excited to even be considered for this opportunity.

Overall, the internship was an amazing experience.  My main project was to update the Family Prep Screen, which involved looking into the current literature for any updates to gene and variant classifications.  I was also able to talk with several genetic counselors that work for Counsyl and learn about their roles within the company. 

Interning with a commercial lab allowed me to see all of the moving parts that I didn’t know existed.  From my past experiences and classes, I learned about the technology behind genetic testing, but I didn’t know about the numerous different disciples needed to keep a commercial lab like Counsyl up and running.  It takes an abundant amount of engineers, programmers, scientists, and more working together and constantly communicating in order for the company to be successful and profitable.

This internship really opened my eyes to some of the different roles genetic counselors can have outside of the clinical setting.  At Counsyl, career options for genetic counselors extend into positions such as project directing and marketing.  Talking with these individuals illustrated the diverse potential of my master’s degree, helping me to appreciate my experience at UC even more.

--Joe Jacher, second year student