Detailed Session Information
Advance Session: Emerging Technologies for Genetic Teaching and Learning
Friday, October 12
2:00 pm - 6:00 pm
Buses begin departing The Westin Hotel lobby at 1:30 pm
Participate in an exciting interactive workshop featuring new and cool clinical and educational technology applications for genetic counselors including: Virtual worlds and meetings, Google jockeying, collaborative editing, wikis, podcasting, clickers, digital storytelling, e-books, YouTube and more! To maximize your learning experience, please bring a laptop. You will be asked to install complimentary software on your computer in advance. The program will be held one mile off-site and transportation will be provided via shuttle buses.
Note: Separate fee of $35 required. Registration for this course must be made by August 31. If the required minimum number of participants is not met by August 31, this course will be cancelled. In the event this occurs, a full refund will be issued by the same method original payment was made.
Advance Session Faculty
Debra Collins, MS
Kansas University Medical Center
Kansas City, MO
David Antonacci, MS
Kansas University Medical Center
Kansas City, MO
Cynthia Dolan, MS
GeneReviews
Seattle, WA
Jill Ducey, MS
Kansas University Medical Center
Kansas City, MO
Gary Doolittle, MD
Kansas University Medical Center
Kansas City, MO
Betsy Gettig, MS
University of Pittsburgh
Pittsburgh, PA
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Plenary Sessions
Saturday, October 13
8:00 am - 9:30 am
Our Back Pages: The origins of Genetic Counseling and Medical Genetics
Nathaniel Comfort, PhD, Domesticating humans: technical solutions and ethical problems in early medical genetics
Alexandra M. Stern, PhD, Why the Genetic Counselor was Conceived at Sarah Lawrence, 1969
Dr. Diane Paul, Parent Power and Public Policy: The Case of PKU
Symposium Panel: Our Back Pages
Genetic counseling is old enough to have a history, and that history has influenced genetic counseling practice. Against a background provided by Robert Resta, 3 historians will explore that history. Dr. Stern will examine why the first genetic counseling training program emerged at Sarah Lawrence College in 1969. Dr. Paul will use the history of newborn screening for PKU to explore the roles of patient/parent advocacy groups
in establishing medical priorities. Dr. Comfort will discuss the inherent technical and ethical problems in studying human heredity during the 1960's and how the solutions influenced the growing field of genetic counseling.
10:00 am - 11:00 am
The Dr. Beverly Rollnick Memorial Lecture: We Share the Same Shadow
Francis Peek, Kim Peek
Kim and Fran Peek travel the world to share their message, “Learning to recognize and to respect differences in others and treating them like you want them to treat you will bring the peace and joy we all hope for. Let’s care, share—be our best!” In their presentation, Kim and Fran will share how important it is to accept differences and celebrate diversity as we are all different and it’s our differences that make us unique and special. Kim will amaze you by his abilities while also marveling at what true unconditional love means between a father and son.
11:00 am - 12:30 pm
Perinatal Hospice: Continuing a Pregnancy with a Terminal Prenatal Diagnosis
Annette Klein, RN ICCE, Amy Kuebelbeck, MA
A gift of time: Supporting parents continuing a pregnancy with a terminal prenatal diagnosis
After receiving a terminal prenatal diagnosis, some families wish to continue their pregnancies and embrace whatever time they may have with their baby, even if it is only before birth or for minutes after birth. From the perspectives of a caregiver and a parent, the presenters will describe specific ways to offer support for this relatively new patient population—especially the innovative concept of perinatal hospice, a compassionate and practical response to one of the most heartbreaking challenges of prenatal testing.
2:30 pm - 4:00 pm
Update on Fetal Intervention/Therapy
Timothy Crombleholme, MD
4:00 pm - 5:30 pm
Janus Series
Using Stem Cells to Treat Disease
Jennifer Horsma Keller, MS, MBA
Cardiofaciocutaneous (CFC) syndrome: Update and Review
Pilar L. Magoulas, MS, CGC
Cardio-facio-cutnaeous (CFC) syndrome is a rare disorder affecting ~200-300 individuals worldwide. With the recent discovery of several genes that cause this syndrome, we are now able to recognize pertinent similarities and differences between this syndrome and several closely related syndromes that share the same molecular pathway. This exciting discovery will have widespread implications for both individuals with CFC and those with related conditions as we begin researching potential therapeutic options. The purpose of this presentation is to review the clinical features and natural history of CFC syndrome, while highlighting the recent molecular advancements in the understanding of these shared syndromes.
Sunday, October 14
8:15 am - 9:15 am
Genomic Rearrangements: A Molecular and Clinical Review
Dr. Lorraine Potocki
9:15 am - 10:45 am
Project DOCC-Delivery of Chronic Care
Maggie Hoffman
Advances in medicine, pharmacology, and technology have extended the lives of children and adults who have chronic genetic diseases, while changes in insurance and shorter hospital stays have combined to increase duration and intensity of care at home. Project DOCC has created a panel presentation and a chronic illness history presented by family caregivers and adult patients with genetic illness. Their insight sheds new light on the life experience of those with genetic illness.
4:30 pm -6:00 pm
What Every Counselor Should Know About Negotiating
Steven Keiles, MS
This lecture will focus on empowering each individual to not only help them get more out of their own career but to help their colleagues to the same. We will discuss the value of the NSGC, not just in the obvious ways but the behind the scenes activities to show how this professional organization is working for all genetic counselors.
This presentation is really aimed at empowering each person to not only strive for what they want, but to be able to achieve what they deserve. In order to accomplish this, some basic strategies will be reviewed to provide all attendees the opportunity to be as successful as they choose to be. Attend this session to learn the important things about your job that you were never taught in school. I guarantee that if all who attend, go on and follow my recommendations we will all be making significantly more money within the next couple of years if not sooner.
Monday, October 15
10:30 am - 11:30 am
Incorporating Genomics in the Management of Early-Stage Breast Cancer
Eleftherios P. Mamounas, M.D.
In early-stage breast cancer, there is an increasing need for more accurate predictors of risk for recurrence and of therapeutic benefit from adjuvant therapy. Gene expression profiling is a very promising technology by which we can obtain accurate and reproducible information on the biologic behavior of early-stage breast cancer. This approach is superior to the use of traditional anatomic/pathologic factors such as age, tumor size, or histologic grade. Several gene expression profiles have already been validated and some are commercially available. This lecture focuses on the biologic and clinical rationale, methodology and process for developing these new clinically useful tools.
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Educational Breakout Session I
Monday, October 15
8:00 am - 10:00 am
A. (Mis)Understanding Probabilistic Information
Talya Miron-Shatz, PhD
This EBS will demonstrate how probabilistic, frequentist and visual forms of presenting numeric information either facilitate or impair comprehension and informed decision making by consultees.
B. The Genetics of Pancreatic Cancer
Harold Frucht, MD and Alison Klein, PhD
Sponsored by the Cancer SIG
Review syndromes associated with an increased risk for pancreatic cancer and discuss utility of available pancreatic cancer screening techniques and ongoing studies.
C. The Job Hunt: Helpful Hints and Suggestions to Make that Job Interview Work for You!
Mary Ahrens, MS; Betsy Gettig, MS; and a panel of recent graduates
This EBS, primarily for graduate students, will include a panel of recent graduates describing their experiences looking for a job. The second part of the EBS is a role play of a job interview expanding on students’ knowledge of the job interview process.
D. CGH Microarrays: Practical Advice for Clinical Application and Interpretation
Jennifer Gamm Ruschman, ScM; Jeff Gregg, MD; and Justine Coppinger, MS
Experts from the array comparative genome hybridization (aCGH) arena lead a review and discussion of practical clinical application, potential pitfalls and future promises of aCGH.
E. Consumer-driven Healthcare: Developing a Framework for Genetic Counselors?
Elissa Levin, MS and Andrew Faucett, MS
Learn the fundamentals of consumer-driven healthcare from academic, industry, policy and consumer representatives. Explore opportunities for genetic counselors as key professionals in this growing trend.
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Educational Breakout Session II
Monday, October 15
10:30 am - 12:30 pm
F. Understanding Cancer Pathology and its Role in Hereditary Cancer Risk Assessment
Russell Broaddus, MD, PhD; Alex Lazar, MD, PhD; and Mike Gilcrease, MD, PhD
Sponsored by the Cancer SIG
This program will review basic principles of cancer pathology, discuss pathology associated with specifi c hereditary cancer genes and provide direction in applying pathology information for hereditary cancer risk assessment.
G. What Lies Beneath? Hidden Dynamics in Supervisor/Supervisee Relationships
Nancy Callanan, MS; DiAnne Borders, PhD; Sonja Eubanks, MS; Bonnie LeRoy, MS; and Patricia McCarthy Veach, PhD
Explore issues that challenge genetic counseling supervision relationships and identify strategies supervisors can use to establish and maintain boundaries that promote positive supervision relationships.
H. Connective Tissue Disorders: Navigating the Clinical Diagnosis and Counseling Maze
Hal Dietz, MD; Peter Byers, MD; and Deborah Krakow, MD
New disease entities, new tests, new treatments – diagnosis and genetic counseling for connective tissue disorders is more complicated than ever! Hear the latest from experts in the field.
I. The Role of the Genetic Counselor in Fetal Therapy/Intervention Clinics
Martha Dudek, MS; Elizabeth Peach, MS; and Stefanie Kasperski, MS
Sponsored by the Prenatal SIG
This EBS will provide a review of available fetal interventions, including the benefi ts and risks, while discussing the role of the genetic counselor in these multidisciplinary teams. We will present case examples to describe the complexity of the genetics, the technology and the ethical issues.
J. The Role of Genetic Counselors in Mass Disasters: Lessons from Hurricane Katrina
Barbara Biesecker, MS; Holly Peay, MS; Matthew Thomas, ScM; Colleen Brown, ScM; Rachel Jacobson Silver, ScM; Jamie Dokson, ScM; Sandra Donkervoort; Devki Saraiya; and Amanda Sozer, PhD
Learn about the missing persons effort following Hurricane Katrina, which included genetic counselors with skills in pedigree construction, identification of DNA informants, grief counseling and managing expectations.
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Educational Breakout Session III
Monday, October 15
5:00 pm - 7:00 pm
K. Sudden Cardiac Death: An Introduction to the Genetics and Psychosocial Implications of Living With the Risk of Sudden Cardiac Death
Nicole Johnson, MS, CGC; Heather MacLeod, MS, CGC; and Crystal Tichnell, MS
This EBS will explore both the genetic and psychosocial aspects of counseling families who have, or are at risk to develop, an inherited cardiac condition that places them at risk for sudden cardiac death.
L. Grassroots Advocacy 101: Basic Training for Genetic Counselors
Melissa Schweitzer, MS, CGC; Diane Baker, MS, CGC; Heather Zierhut, MS; Wendy Uhlmann, MS, CGC; and Jennifer Leib, ScM, CGC
Participate in an interactive basic training session on becoming a “grassroots advocate” to advance the public policy interests of genetic counselors on the state and federal government levels.
M. Emerging Approaches for the Treatment of Lysosomal Storage Diseases: What’s Behind the Science
Laurie Bailey, MS, CGC; Brandon Wustman, PhD; Seng Cheng, PhD; and Ellen Welch, PhD
Sponsored by Amicus Therapeutics and the Metabolism/LSD SIG
Participants will learn about emerging approaches that are currently being investigated for therapeutic use in lysosomal storage disorders.
N. Talking About Disability in Prenatal Genetic Counseling Sessions: Identifying Tensions and Developing Strategies
Jon Weil, PhD and Jan Hodgson, PhD
This session will identify the necessity for, and encourage reflective practice concerning accurate and respectful dialogue about disability in prenatal genetic counseling sessions.
O. The Genetic Counseling Profession in International Settings
Julianne O'Daniel, MS; Jennifer Fitzpatrick, MS; Angela Arnold, MS; Clara Gaff, PhD; Sonia Margarit, MS; Shelly Kennedy, MS; Chieko Tamura, ScM; Janice Edwards, MS; Shobana Kubendran, MS
Submitted by the International Subcommittee
Gain an appreciation of issues related to the practice of genetic counseling in international settings, including the influence of healthcare systems and socio-cultural environments.
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Educational Breakout Session IV
Tuesday, October 16
8:00 am - 10:00 am
P. Common Extra-colonic and Extra-endometrial Cancers in Lynch Syndrome: Incidence, Heterogeneity and Screening
Patrice Watson, PhD and Jonathan Terdiman, MD
The most common cancer types diagnosed in persons with Lynch syndrome (LS) are colorectal and endometrial cancer. However, several other cancer types also occur frequently, including small bowel, ovarian, gastric, hepatobiliary tract, urologic tract and brain tumors. In this session, Patrice Watson, PhD will review the latest data on age-specific incidence rates obtained from an international collaborative study, and Jonathan Terdiman, MD will discuss how this data can influence the strategies for screening and prevention.
Q. When the Muscles Stop Working Right: An Update on the Muscular Dystrophies and Motor Neuron Diseases
Erica Sanborn, MS, CGC; Erynn Gordon, MS, CGC; Alison LaPean, MS, CGC; Jill Goldman, MS, MPhil, CGC
Submitted by Neurogenetics SIG
This workshop offers a case-based update on the genetics, diagnosis, treatment, day-to-day management and psychosocial issues of the muscular dystrophies and motor neuron conditions.
R. Evolving Treatment for Metabolic Diseases: An Update for Practicing Genetic Counselors
Rebecca Crimian; Jennifer Sullivan, MS, CGC; June Allison-Thacker, RN, CPON; and Micki Gartzke
Sponsored by Metabolism/LSD SIG
A review of recent treatment changes for metabolic disease. Impact of evolving technology for practicing counselors will be highlighted with a Krabbe disease model.
S. The Evolution/Creationism Debate: Ways of Thinking and Talking About It
Joseph McInerney, MA, MS; Debra Collins, MS, CGC; Ken Bingman; Brad Williamson; Bonnie LeRoy, MS, CGC; Jehannine Austin, PhD; Dianne Bartels, PhD; Nancy Steinberg Warren, MS, CGC; Cate Walsh Vockley, MS, CGC; Janet Williams, MS, CGC; Karin Dent, MS, CGC; and Sonja Eubanks, MS, CGC
Submitted by Ethics Subcommittee
Develop an expanded perspective on the debate over evolution and creationism and how it intersects with the profession of genetic counseling.
T. Genetic Counseling in the Era of Personalized Medicine
Joan Scott, MS, CGC and TBA
Personalized medicine describes the capacity to tailor therapies and drug dosing to an individual's unique genetic profile. Join us in examining this emerging field and the opportunities it offers genetic counselors.
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