JEMF Award Recipients
The Jane Engelberg Memorial Fellowship was first granted in 1993. The following is a list of previous and current award recipients and a description of the project funded.
Brittney Murray, MS, CGC for her project entitled "Outcomes of Genetic Counseling for Arrhythmogenic Cardiomyopathy: A comparison of face-to-face and tele-genetic counseling".
Increasingly, it has become apparent not only within the profession, but also to the scientific and general population, that the demand for genetic counseling is increasing. Access is limited, however, by both the size and geographic location of the current genetic counseling workforce.Therefore, tele-genetic counseling is an attractive option to increase access. This is of particular importance in cardiovascular genetic counseling, in which genetic testing is often high stakes in managing sudden death risk, however the workforce is limited, with fewer than 200 practicing cardiovascular genetic counselors. We have been fortunate to receive donor funding to establish a tele-genetic counseling program within our clinic of individuals with inherited arrhythmogenic cardiomyopathy. This provides an important, time-dependent, opportunity to determine whether tele-genetic counseling is non-inferior to traditional face-to-face genetic counseling in achieving three key cardiac genetic counseling outcomes selected based on the Reciprocal Engagement Model: reducing cardiac-specific anxiety, increasing disease-specific genetic understanding, and enhancing patient empowerment. Thus we propose a prospective observational study of individuals attending genetic counseling for an arrhythmogenic cardiomyopathy indication. Data will be collected by questionnaire 2 weeks preceding and 2 weeks following genetic counseling. In addition to comparing outcomes of face-to-face and telegenetic counseling, we will assess how genetic counseling outcomes are mediated by the strength of the genetic counselor / client alliance in each setting. Results of the study will provide some of the first evidence of genetic counseling outcomes in cardiology clinics, and also contribute outcome data of alternative methods to expand genetic counseling services.
Julia Wynn, MS, CGC for her project entitled "Examining the Effects of Whole Exome Sequencing (WES) and Utility of Educational Videos to Augment WES Patient Education".
Whole exome sequencing (WES) is increasingly used in clinical genetics but there is a brevity of information about the patient experience with WES including how it effects psychological well-being and how patients use the results. Additionally as WES is more broadly adopted, there will be more patients with lower health literacy and educational videos that allow patients to learn or review genetic concepts may be an important resource to educate patients and conserve in-person counseling time. We will conduct a study using surveys composed of developed questions about the WES process and validated instruments to measures outcomes of anxiety, depression, adaptation to genetic test results, health behavior, satisfaction with decision and genetic counseling, and genetic and WES knowledge to evaluate the psychosocial impact and patient utility of WES and identify factors associated with outcomes. A retrospective cohort of participants who have had WES and received results will be surveyed. A prospective cohort will be surveyed both after they consent to WES and after they receive results. We will also test the utility of educational videos to improve patient education and satisfaction by randomizing the prospective cohort to watch or not watch educational videos and measuring differences in WES and genetic knowledge and patient experience. Understanding the patient experience with WES as well as the utility of educational videos will be important in guiding recommendations for best practices for genetic counselors and other healthcare professionals in this new era of genomic medicine.
Cynthia A. James, ScM, PhD, CGC for her project entitled "How does family history influence psychosocial adaptation in individuals with inherited cardiomyopathies and their at-risk family members?"
Genetic counselors are increasingly specializing in cardiology, however there is a limited evidence base to inform clinical practice. In adults with arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant cardiomyopathy with frequent life-threatening arrhythmias, a positive family history was recently associated with less clinically significant anxiety and depression. Informed by Wallander's Model of Risk and Resistance, this study will conduct a two-year, two-phase mixed methodological study to 1) confirm and explain this surprising protective effect and 2) identify other key predictors of adaptation to inherited cardiomyopathy. In phase 1, the investigators will administer a cross-sectional questionnaire to up to 800 adults enrolled in the Johns Hopkins Hypertrophic Cardiomyopathy (HCM) and ARVC research registries who have either been diagnosed with HCM/ARVC or are at-risk based on family history and/or mutation. In phase 2, the investigators will conduct semi-structured telephone interviews with 30 questionnaire respondents to analyze how individuals perceive the impact of their family histories on adaptation. Study results will 1) provide an evidence base for adaptation to inherited cardiomyopathy among North American patients and family members, 2) identify risk factors for poor adaptation, and 3) potentially confirm and explain the protective effect of family history. The ultimate hope is that genetic counselors will be able to use study results to tailor discussions of social support and better risk stratify clients for clinically significant adaptation difficulties.
Flavia Malheiro Facio, MS, CGC
NHGRI Bioethics Core
Genomic sequencing in a population of healthy infants: Exploring parental motivations, expectations and utilization of sequencing results
Flavia's proposal, "Genomic sequencing in a population of healthy infants: Exploring parental motivations, expectations and utilization of sequencing results" is anticipated to make important contributions to the field of genetic counseling. The overarching goal of the study is to pilot the use of whole exome sequencing (WES) in a cohort of healthy infants in order to understand the experience of parents as they decide whether to enroll their child in a sequencing protocol, including parental motivations and expectations of WES for their infant and their utilization of the health-related information derived from WES.
Katie Sheets, MS, CGC and Blythe Crissman, MS, CGC
Duke University Medical Center
Response to Genetic Counseling: Understanding the Experience and Needs of Individuals Receiving a Prenatal Diagnosis of Down Syndrome
The goal of this two-year project is to better understand the experience and informational and emotional needs of patients during the process of making various plans for pregnancy management.
Sara M. Fitzgerald-Butt, MS, CGC
The Research Institute at Nationwide Children's Hospital
Assessment of the Genetic Knowledge of Adolescents and Young Adults with Congenital Heart Defects and their Parents
The goal of this two-year project is to develop an understanding of the genetic knowledge of adolescents and young adults with congenital heart defects (CHD) and their parents, in order to identify educational needs and provide a foundation for the future development of educational tools.
Dawn Allain, MS, CGC, and Kate Shane, MS, CGC
The Ohio State University
The Value of Genetic Counselors in Genetic Testing for Hereditary Breast-Ovarian Cancer
The goal of this two-year pilot project is to demonstrate the value of genetic counseling by generating outcomes data from two patient cohorts, those who undergo genetic testing of the BRCA1 and BRCA2 genes through their non-genetics health care providers compared to those being tested by genetic counselors.
Catherine (Casey) Reiser, MS, CGC
University of Wisconsin
Development of Educational Resources for Genetic Counseling Students, Practicing Genetic Counselors and Students in Other Health Professionals Using Digital Recordings of Genetic Counseling Sessions by Master Genetic Counselors
This project is anticipated to make an important contribution to the genetic counseling profession.
Nancy Steinberg Warren, MS, CGC
University of Cincinnati
Enhancing Cultural and Linguistic Competence in the Genetic Counseling Profession
The goal of this project is to develop an online genetic counseling cultural competence toolkit (GCCCT) to grow the cultural competence and capacity of the genetic counseling workforce to actively participate in national efforts to reduce health disparities.
Kathryn Peters, MS , CGC
Penn State Diabetes Center
What the Client Brings to the Session: The Development of an Instrument to Assess Genetic Counseling Client Background, Needs and Expectations
The goal overall two-year research project is to develop an instrument to assess the background, needs and expectations of genetic counseling clients.
Robin Grubs, PhD, CGC
University of Pittsburgh
Toward a Grounded Theory of Professional Practice for Genetic Counselors
This was a one year project which represents the second phase of a three-phase research project. The goal of the overall research project is to generate a grounded theory of practic for genetic counselors.
2006 Special Award
Debra Collins, MS, CGC
University of Kansas
Grantsmanship for Genetic Counselors: An Online Course
The primary goal of this one year project was to assist both beginning and established genetic counselor investigators to optimize their chances of successfully competing in peer-reviewed grant application competitions.
Caroline Lieber, MS, CGC
Sarah Lawrence College
Privileging Family Stories in Genetic Understanding: An Updated Paradigm for Genetic Counselors
The goal of this two-year project is to develop and implement a Family Stories project for genetic counselors. The project will enable health professionals to hear and understand the complexity of the patient's narrative "voice" as well as study how pregnant women understand their family's history of health and illness and concepts of inheritance.
Janice Edwards, MS, CGC
University of South Carolina
Genetic Counseling Education: Connecting the Global Community
This was a two-year project. In May 2006, seventy one professionals traveled to Manchester, England for the first international meeting of genetic counselor educators, representing forty five genetic counseling programs and fifteen professional organizations. Altogether, eighteen countries from around the world attended the three day conference, Genetic Counseling Education: Connecting the Global Community.http://igce.med.sc.edu
Katy (Catherine) Downs, MS, CGC
University of Michigan
Promoting Communication and Trust in Multicultural Genetic Counseling: Working with Interpreters
The goal of this project is to develop a model for enhancing the effectiveness of working with foreign language interpreters in the genetic counseling session. The project will focus on two non-English language communities: the Spanish-speaking community and the Deaf community using American Sign Language (ASL).
Susan Estabrooks*, Elizabeth Melvin*, and Emily Burkett**
* Duke University, **Oregon Health & Science University
The team will explore the roles, skills, and training of the research genetic counselor. The published findings of Estabrooks, Melvin, and Hanson will provide recommendations for future training of research genetic counselors.
Christina Palmer, PhD and Don Hadley
Dr. Palmer and Mr. Hadley established validity of specific models for evaluating how people perceive and evaluate risks and, focused on genetic tests, showed that risk judgments differ more by ethnicity/race than by worldview or gender.
Monica Barth, MS, CGC
From Novice to Expert: Supervising the Development of Genetic Counselors
This study will look at genetic counseling clinical supervision in an adult learning (experiential learning) framework.
Bonnie S. LeRoy, MS, CGC
University of Minnesota
Development of a Genetic Counseling Helping Skills Training Skills Manual
This study involved creating a training manual for use by genetic counselor educators and supervisors to aid in their students' helping skills. The manual addressed psychosocial, practice-based competencies established by the ABGC, with a particular focus on communication skills, ethical issues, personal awareness and diversity.
Rebecca Rae Anderson, MS, JD, CGC
University of Nebraska Medical Center in Omaha
Religious Traditions and Prenatal Genetic Counseling: A Survey
This study surveyed representatives of U.S. religious organizations to explore a range of issues related to fetal development and fetal loss.
Judith Benkendorf, Michelle Prince and Heidi Hamilton, PhD
Genetic Counseling as Discourse: A Sociolinguistic Approach
This study will explore sociolinguistic techniques of discourse analysis using the model developed by sociolinguist Deborah Tannen as they apply to communications in the genetic counseling setting. A discourse model will be formulated.
Allyn McConkie-Rosell, MSW
Carrier Testing in Women Who are At-Risk for Fragile X Syndrome
The study explored the psychological response to learning carrier status in women at-risk for Fragile X syndrome and provided valuable information about policy and guidelines for carrier screening in this population.
An interactive workshop focused on grant writing skills and the transference of creative ideas into fundable projects
Twenty-two members attended the workshop held in February in Colorado Springs, Colorado.
Brenda Finucane, MS
Genetic Counseling of Women with Mental Retardation: A Search for Strategies to Enhance Understanding and Reproductive Decision Making
This research focused on identifying and publishing specific, reproducible strategies for genetic counselors to enhance their quality and effectiveness when counseling this special needs population.
Deborah L. Eunpu, MS
Funded sabbatical to study the role of psycho-dynamic, couple and family therapy theories and techniques as they apply in the context of genetic counseling. The project had as its primary product the development of a format for presentation and analysis of genetic counseling case material which draws on the literature and experiences of other therapeutic systems.
Katherine Schneider, MPH
Counseling about Cancer: Strategies for Genetic Counselors (Book)
The tool is being written to assist counselors and eventually other health professionals who identify cancer when taking pedigrees. Rather than creating another didactic tome listing and explaining the more than 200 Mendelian disorders with cancer as part of their phenotype, this reference provides practical strategies for counselors working with patients with a family or personal history of cancer. Ms. Schneider is involved with the high risk breast cancer clinic and helped create the protocol for the p53 predictive testing program in the Division of Cancer Epidemiology, Dana-Farber Cancer Institute, Boston.