Melissa Chapman, Biology
Survey of Ashkenazi Jewish Young Adults Attitude about Testing for Gaucher’s Disease
Faculty Mentor: Dr. Andrea Kalfoglou
Ashkenazi young adults in college and even high school have been encouraged since the 1970s to receive genetic testing for their risk of passing Tay Sachs on to their children. Today, genetic tests include “Jewish panels,” tests for carrier status for diseases which are of concern in the Jewish population. Recently, controversy has erupted about whether or not Type 1 Gaucher disease ought to be included in the Ashkenazi carrier-testing panel because Gaucher frequently has mild to no symptoms and usually can be treated with a new enzyme replacement therapy. In rare cases it can be life-threatening and very painful.
We can learn from the carrier-testing experiences of members of the Ashkenazi Jewish population. This study will use mixed methods to conduct a public consultation with Ashkenazi young adults to better understand their knowledge, attitudes, and expectations around carrier testing. These data can serve as a model to inform policymakers about the expectations of consumers for the design and implementation of the next generation of carrier testing. We will first qualitatively explore this topic through focus groups with young adults in Baltimore and New York City who have 1) not been tested; 2) been tested through Dor Yeshorim (a private testing organization that serves primarily the Orthodox Jewish community but wants to expand to provide services for less traditional Jews. The organization does not disclose individual test results); and 3) been tested through a physician/center/laboratory where they received their individual test results. Our findings may have broad-based implications for the development of policy and practice guidelines for multiplex genetic-carrier testing.
How did you find your mentor for this project?
Dr. Kalfoglou is the faculty advisor the Bioethics Student Association for which I was vice-president. She encouraged students to apply to present work at national research conferences. After working on my presentation with Dr. Kalfoglou, I asked her to be my mentor.
How did you know this was the project you wanted to do?
After presenting research in the conference, I realized this was an interesting topic that I wanted to learn and explore more about.
Is this your first independent research project?
No, I did independent research last semester as well.
Do you get course credit for this work?
Yes I am receiving three credits as an independent study, Psyc499
How much time do you put into it?
I meet with my mentor Dr. Kalfoglou once a week to discuss progress on my research. At home is when I do my literature research, work on recruiting participants etc.
How did you hear about the Undergraduate Research Award program?
Last year I participated in URCAD and found out about this amazing program that would enable me to continue working on my research and receive funding as well.
What academic background did you have before you started?
I had done clinical research at St. Joseph’s Medical Center one summer.
Was the application difficult to do?
Definitely not. It was pretty simple to do.
How much did your mentor help you with this?
My mentor was a huge part in helping me with my research. She was always there to answer any questions that I had and to make sure the project ran as smoothly as possible.
What is your advice to other students about getting involved in research?
I highly recommend getting involved in research. It’s such a worthwhile experience.
What are your career goals?
I plan on going into the health field.
What has been the hardest part about your research?
The hardest part about research is managing your time.
How does your research relate to your work in other classes?
I am a Psychology major, Biology minor, and my research topic deals with both these topics.