When Dawn McGee ’05M, Program Director of the Alpha-1 Association Genetic Counseling Program at the Medical University of South Carolina (MUSC), needed help creating and assessing educational materials for the Alpha-1 Association, she turned to Arcadia’s Genetic Counseling program. Brittany McLarney ’11M and Rebecca Cook ’11M stepped forward to conduct their theses on Alpha-1-Antitrypsin Deficiency (Alpha-1) educational materials. Now that they’ve each stepped out into the workforce, their accumulated experience is helping them distinguish themselves among their new peers.

As the Program Director of Alpha -1 Association Genetic Counseling Program, which provides national toll-free and confidential genetic counseling for Alpha-1, McGee travels around the country several times a year giving presentations about various aspects of Alpha-1 and works as a research coordinator and principal investigator on multiple research studies related to the condition. In 2010, the Alpha-1 Association had recently finished a DVD of four short videos about Alpha-1 for the community and they were looking evaluate their usefulness. Simultaneously, after noting a distinct lack of informative resources for both children and adolescents, the Association was looking to produce two books: one for children and one for adolescents on Alpha-1.

“This was the first time I was a mentor and I really enjoyed the role,” she says. “It was amazing to see how hard these students worked and how they matured into really great genetic counselors. Genetic counselors are lucky to have them entering our community.”

Though Cook and McLarney were unfamiliar with Alpha-1 Antitrypsin Deficiency, Dawn McGee invited both students to attend an education day, meetings held for the benefit of patient families and caregivers.

Alpha-1 is a genetic condition that can cause liver disease in children and lung and/or liver disease in adults. It is named for alpha-1 antitrypsin, a protein that is produced mostly in the liver. The protein’s primary function is to protect the lungs from neutrophil elastase, which is an enzyme that digests damaged or aging cells and bacteria to promote healing in the lungs. However, if left unchecked, it will also attack healthy lung tissue.

Rather than two normal copies of the gene that make the protein, some individuals may have one altered copy (Alpha-1 Carriers) or two altered copies (Alphas). Carriers typically produce enough protein to stay healthy, especially if they do not smoke.  However, Alphas don’t have enough alpha-1 antitrypsin going to the lungs, thus increasing the risk to develop asthma, bronchiectasis and chronic obstructive pulmonary disease (COPD), which includes emphysema and chronic bronchitis. Those who have Alpha-1 also are at an increased risk to develop cirrhosis of the liver and panniculitis.

“The Alpha-1 community and Dawn were both very welcoming and helpful,” says McLarney. “Everyone was eager to help us learn what [we] needed to know. It was a great experience to write patient materials. It gives a whole new perspective on how to look at a disease. We learned so much about the clinical side of the story, and some about research, but nothing about advocacy and disease-specific communities. I wanted to know what it was like for these patients, after the diagnosis and the testing, and in the long term.”

While Cook was happy to volunteer for the task of studying the effectiveness of the Alpha-1 Association educational videos, she was even happier to work with a mentor that had a common background.

“It was nice to work with someone who had, not all that long before, gone through the same program with many of the same teachers and mentors,” says Cook. “Outside of the [scope of my] thesis she was a person I could go to for advice about the program, looking for a job, thinking about boards, whatever it was.”

Conducting research under the mentorship of McGee provided Cook the experience and skills she needed to land her current position as a genetic counselor at the Cleveland Clinic in Cleveland, OH. Since she arrived, Cook has been working in all of the specialty divisions to prepare for board exams; however she hopes to end up focusing on hereditary cancer counseling . Cook also proved her competency at  a national level when she presented her thesis as a poster at the National Society of Genetic Counselors Meeting in San Diego in October 2011.

“You don’t find that at most hospitals, so I feel really lucky that they are so supportive of new graduates,” Cook says. “Because we do so much research at this particular institution, it was important that I do a thesis and have a familiarity with the process of applying to an IRB, forming questionnaires, designing a study, interpreting data, and so forth. There is always more to learn but I will absolutely be involved in research here so it was vital I have some level of experience.”

Simultaneously, Cook’s classmate McLarney worked on the Alpha-1 book for adolescents because of her experience in working with children and young adults, particularly with a volunteer group called Quixote Quest. So when she heard about McGee’s project to produce a book for adolescents, she was excited to get involved.

Now that she has graduated, McLarney is working at the Children’s Hospital of Philadelphia as a genetic counselor at the Molecular Genetics Laboratory, where her responsibilities include assisting patients and doctors in ordering tests and understanding the results.

“I loved my time at Arcadia University and learned a lot working on my thesis project with Dawn,” says McLarney. “My experiences have already helped me greatly with my career as a genetic counselor. So far my job has been very rewarding. In the future, I will also be helping to write patient materials on diseases the lab tests for. As I take on that new role, my experience working with Dawn and the Alpha-1 community will definitely come in handy.”