Faculty
Katy Downs
Research Investigator, Genetic Counselor
Human Genetics Laboratory
E-mail:
Kresge Hearing Research Institute
1150 W. Medical Center Drive
9303A MSRB III
Ann Arbor, MI. 48109-0648
Phone: (734) 764-3501
Fax: (734) 615-8111
Accomplishments
- BA, Biology, California State University, Hayward, 1983
- MS, Genetic Counseling, University of California, Berkeley, 1985
Volunteers Needed - Research Interviews
I have worked as a Sign Language Interpreter (National Registry of Interpreters for the Deaf Comprehensive Skills Certificate (CSC) 1981) and Genetic Counselor for many years. Now I am interviewing people to find out how they feel about genetics. The interviews are part of a research study.
You may qualify for a research interview if:
- You are a parent of a child with a permanent hearing loss (parents can be deaf, hearing, or hard of hearing), OR
- You are a deaf/hard of hearing adult, OR
- You've used an interpreter for a genetic counseling appointment, OR
- You have talked with your doctor about genetic testing for hearing loss.
If you would like to know more about the study, please contact me:
Katy Downs
E-mail:
Fax: (734) 615-8111
Telephone: (734) 764-3501
Toll-free telephone: 1-888-394-6134
TTY: leave a message and I will return your call on my TTY.
Research Interests
My research interests are hearing loss and the family, genetic testing for hearing loss, and Ethical, Social, and Legal Issues (ELSI) in Genetics.
Hearing loss occurs in all populations regardless of sex, race, or socioeconomic status. Hearing loss affects the whole family across the life-cycle. This is true whether there are several Deaf family members or only one individual with hearing loss. It has an impact on communication within the family as well as interactions outside of the family. It can influence one's access to recreational and work opportunities and can affect one's access to quality health care. Specifically, I am interested in patient and family perceptions of genetic evaluation and counseling.
Patient Experience of Diagnostic Testing for Enlarged Vestibular Aqueduct
One cause of hearing loss is Enlarged Vestibular Aqueduct (EVA). It can be diagnosed in children and adults.
The goal of this study is to elicit patients' perceptions of the different testing modalities for EVA: audiologic testing, CT of the temporal bone, and molecular genetic testing.
VOLUNTEERS:
- Adults with EVA
- Parents of children with EVA
Participants will be asked to answer a questionnaire and complete a confidential interview. The time commitment is less than 2 hours.
More information is available at the U-M Engage website: https://www.umms.med.umich.edu/engage/.
Providing Health Care Through Interpretation
This is a qualitative research study examining the views of persons who have participated in a genetic counseling session in which the genetic counselor and patient(s) did not speak the same language. With the increasing number of non-English speaking patients and the growing provision of foreign language interpreters by medical institutions, it is becoming more common for genetic counselors to work with interpreters in the clinical setting. However, the impact of interpreters in the clinical setting has not been researched. Issues concerning the establishment of trust and communication, effects on the genetic counseling process and decision-making have yet to be studied.
Members of all three components of the genetic counseling triad - patient, genetic counselor, and interpreter - will be interviewed. Members of the language-based communities are central in the development, implementation and review of the project.
This research is intended to provide practical strategies for working with interpreters in clinical settings, and a foundation for continuing research in the fields of genetic counseling, health care delivery, and cultural diversity.
The initial work has been supported by the Jane Engelberg Memorial Fellowship, an annual grant from the Engelberg Foundation to the National Society of Genetic Counselors, Inc.
VOLUNTEERS:
This study is open to interpreters, genetic counselors and adult patients who have participated in a genetic counseling session that was interpreted because the genetic counselor and patient(s) did not speak the same language. The genetic counseling could have taken place anywhere in the U.S. or Canada, at any time and for any indication (prenatal, cancer, pediatric, etc.)
Patient Perception of Genetic Counseling and Evaluation for Hearing Loss
This project has two goals:
- Identifying factors that influence whether deaf / hard of hearing adults and parents of deaf / hard of hearing children pursue genetic evaluation and genetic counseling.
- Identifying factors that contribute to satisfaction with the genetic counseling experience.
The American College of Medical Genetics recommends genetic evaluations for children with permanent hearing loss. However, few parents of children with hearing loss are referred to genetics, and of those that are referred, few pursue the referral.
VOLUNTEERS:
- Deaf and hard-of-hearing adults
- Parents of children with permanent hearing loss
Enrollment in this study is not yet open. It will be listed at the University of Michigan's Engage website: https://www.umms.med.umich.edu/engage/.
Integrity of Research
All research is reviewed and approved by the University of Michigan Medical School Institutional Review Board to ensure appropriate treatment and protection of study participants. Clinical and research personnel are certified by the university, state and/or national boards. For people who are interested in finding out more about the studies, the research team personnel are available by phone, fax, email and TTY.
Genetic Counseling
For more information on genetic counseling, see the National Society of Genetic Counselors' webpage (http://nsgc.org/) and http://www.genetests.org/. Click on Educational Materials tab and go to About Genetic Services/What is a Genetics Consultation?
Definitions of Medical Terms
See the University of Michigan Health Systems, IRBMED Guidance: Simplification Guide to Medical Terms http://www.med.umich.edu/irbmed/guidance/guide.htm.Book Chapters
- Lichter PR, Shimizu S, Downs CA, Rozsa FW, Richards JE. (2000) "Pitfalls in mutation screening for TIGR/MYOC." Glaucoma Update VI, ed. G. K. Kriegelstein, Springer (Heidelberg-Berlin-New York).
- Reardon, W., H. V. Toriello ,and C. A. Downs (2004). "Chapter 3: Epidemiology, Etiology, Genetic Patterns, and Genetic Counseling." Hereditary Hearing Loss and Its Syndromes, 2nd edition, eds H. Toriello, W. Reardon, R. Gorlin . Oxford University Press.
