Annual Education Conferences and Short Courses

Saturday, October 25

Jennifer Farmer, MS, CGC
Coordinator, Collaborative Clinical Research Network in
Friedreich’s Ataxia, Executive Director, Friedreich’s Ataxia Research Alliance

Learning Objectives

1. Outline the natural history of Friedreich Ataxia (FA) and
explain its genetic and cellular mechanisms
2. Discuss promising treatments for FA that have
entered clinical trials and those advancing through the
development pipelines
3. Recognize implications for improved patient outcomes
and medical management

P102 The Debate Over Preimplantation
Genetic Diagnosis (PGD): Current
Status, Value and the Future

Jill Fischer, MS, CGC
Director, Clinical Genetics Services, Reprogenetics

Learning Objectives

1. Recognize the complexities of the PGD process and the
proficiencies needed by not only the PGD lab itself but
also by the IVF center and embryology labs
2. Evaluate the various sources of data to allow for an
informed discussion of the value of PGD
3. Outline the current and future directions of PGD and the
patient populations best served by such.

P103 Lynch Syndrome – At the
Intersection Between Genetics
and Pathology

Heather Hampel, MS, CGC
Genetic Counselor, The Ohio State University Comprehensive Cancer Center

Learning Objectives

1. Explain the clinical and molecular features of Lynch
syndrome
2. Understand the effects of aberrant mismatch repair
3. Critically assess the various results of IHC, MSI and
genetic testing for Lynch syndrome
Submitted by the Cancer SIG

P104 Privileging Family Stories in
Genetic Understanding: An
Updated Paradigm for Genetic
Counselors

*JEMF funded grant

Caroline Lieber, MS, CGC
Director, Joan H. Marks Graduate Program in Human Genetics, Sarah Lawrence College

Learning Objectives

1. Explore some of the pre-existing beliefs people hold
about inheritance
2. Present a “case story” psychosocial perspective that
honors and attends to the narrative stories that clients
bring to genetic counseling
3. Appreciate the way in which narrative medicine
techniques can be applied to genetic counseling

P105 Best Abstract Award

E101 An Update on Endocrine Neoplasia
Syndromes

Emily Edelman, MS, CGC
Genetic Counselor, Cleveland Clinic Genomic Medicine Institute
Rebecca Nagy, MS, CGC
Genetic Counselor, The Ohio State University
Thereasa Rich, MS, CGC
Genetic Counselor, University of Texas M.D. Anderson Cancer Center
Mira Milas, MD, FACS
Associate Professor of Surgery and Staff Surgeon, Cleveland Clinic General Surgery

Learning Objectives

1. Describe the key features of endocrine neoplasia
syndromes
2. Examine genetic counseling issues that commonly arise
in families with endocrine cancers
3. Recognize the various surveillance, management and
surgical options available to patients with hereditary
endocrine cancer
Submitted and sponsored by the Cancer SIG

E102 A Multidisciplinary Approach to
Prenatal Dysmorphology

Christina Armeli, MS, CGC Genetic Counselor,
UMDNJ-Robert Wood Johnson Medical School
Martin Chavez, MD
Director of Obstetric Imaging, Department of Obstetrics and Gynecology, Winthrop University Hospital
Susan Sklower Brooks, MS, MD
Chief Medical Genetics, UMDNJ-Robert Wood Johnson Medical School
Christine Seymour, MS
Genetic Counselor, UMDNJ-Robert Wood Johnson Medical School

Learning Objectives

1. Recognize a variety of atypical fetal ultrasound
findings throughout gestation and understand their
possible implications
2. Explain how, based on a prenatal dysmorphology
evaluation, a multidisciplinary team can assess patient
risk, establish appropriate testing protocols, outline
obstetrical management and provide patient education
and counseling
3. Appreciate the importance of fetal imaging in
characterizing possible post-natal outcomes and the
subsequent clinical management

E103 All in the Family: Facilitating
Family Adaptation to Chronic
Disease Using Theory-based
Genetic Counseling Skills

Amanda Bergner, MS, CGC
Senior Genetic Counselor, Johns Hopkins School of Medicine

Learning Objectives

1. Identify the main adaptation issues for children,
adolescents and adults with disabilities
2. Analyze cases in terms of the Family Systems Illness
Model, utilizing the psychosocial typology of illnesses as
well as life stage considerations to inform their analyses
3. Develop counseling interventions for individuals,
couples and families who are affected with disabilities or
chronic illness
Submitted by the Pediatric SIG

E104 Have a Great Idea? Finding,
Developing
and Managing the
Funding!

Lianne Hasegawa, MS, CGC
Genetic Counselor, Hawaii Department of Health
Melanie Myers, MS, PhD, CGC
Assistant Director/Assistant Professor Genetic Counseling Graduate Program,
University of Cincinnati and Cincinnati Children’s Hospital Center
Karen Powell, MS, CGC
Project Coordinator, Guilford Genomic Medicine Initiative, University of North Carolina, Greensboro
Kirsty McWalter, MS, CGC
Genetic Counselor/Project Coordinator, Hawaii Department of Health
Sylvia Au, MS, CGC
State Genetics Coordinator, Hawaii Department of Health
Elizabeth Gettig, MS, CGC
Co-Director, Genetic Counseling Program, University of Pittsburgh
Kerry Silvey, MA, CGC
Public Health Genetics Specialist, Instructor, Oregon Health and Science University

Learning Objectives

1. Recognize the types of grant funding available, be
able to identify examples of each type that have been
successfully obtained and/or worked upon by genetic
counselors
2. Describe how to best prepare in order to apply for
funding proposals and/or applications
3. Explain what responsibilities exist once a funding award
is received
Submitted and sponsored by the Public Health SIG

Sunday, October 26

P106 Professional Issues Panel

P107 Jane Engelberg Memorial
Fellowship (JEMF) Presentation

P108 Natural History and Molecular
Delineation of Cornelia de Lange
Syndrome: A Cohesinopathy
Disorder

Antonie Kline, MD
Director of Pediatric Genetics, The Harvey Institute for Human Genetics,
Greater Baltimore Medical Center

Learning Objectives

1. Review the broad spectrum of findings in Cornelia de
Lange syndrome (CdLS)
2. Outline the natural history of and aspects of premature
aging in CdLS
3. Explain the basis for CdLS as a cohesinopathy

E201 Big Heads, Bumpy Skin and Benign
Thyroid Disease – When Should
You Consider PTEN Gene Testing?

Robert Pilarski, MS, CGC
Clinical Cancer Genetics Program, The Ohio State University
Elizabeth Varga, MS, CGC
Genetic Counselor/Research Coordinator, Columbus Children’s Research Institute
Rebecca Nagy, MS, CGC
Genetic Counselor, The Ohio State University

Learning Objectives

1. Recognize the clinical features of patients with
PTEN mutations
2. Distinguish clinical scenarios where PTEN testing is more
likely to be indicated versus those in which it is less likely,
based on the presenting signs and family history
3. Explain how to manage symptomatic patients with and
without detectable PTEN mutations
Submitted and sponsored by the Cancer SIG

E202 Ultrasound Findings of Unclear
Significance: A Review of Current
Genetic Counseling Practice

Speakers to be determined

Learning Objectives

1. Examine the most recent information regarding the
definition of the ultrasound anomalies, in addition to the
incidence, differential diagnosis, specific prenatal testing
options, prognosis and follow-up recommendations
2. Apply the presented genetic counseling strategies to
assist patients in understanding the significance of the
fetal anomaly
3. Compile up-to-date resources to assist and support
their patients
Submitted and sponsored by the Prenatal SIG

E203 Emerging Approaches in the
Evaluation and Treatment of
Autism Spectrum Disorders

Judith Piggot, MD, PhD
Assistant Professor in Residence and Medical Director of
Autism Evaluation Clinic, Division of Child and Adolescent
Psychiatry, Department of Psychiatry and Biobehavioral Sciences, UCLA
G. Bradley Schaefer, MD, FAAP, FACMG
Founding Director, Division of Medical GeneticsDirector,
Section of Genetics and Metabolism, Department ofPediatrics,
University of Arkansas for Medical Sciences
Ronald Leaf, PhD
Licensed Psychologist, Co-Director, Autism Partnership

Learning Objectives

1. Describe examples of common tools, tests and
mechanisms used in making the diagnosis of Autism and/
or an Autism Spectrum Disorder
2. Apply recently setforth guidelines for the genetic
evaluation of a child with an Autism Spectrum Disorder
3. Examine the principles of Applied Behavioral Analysis
(ABA) therapy
Submitted by the Pediatric SIG

E204 Publish for Success

*This is submitted and sponsored by JEMF

Terri Blase, MS, CGC
Genetic Counselor, Advocate Christ Medical Center/ Hope Children’s Hospital
Kristen Vogel, MS, CGC
Genetic Counselor, Evanston Northwestern Healthcare
Sarah Charles, MS, CGC
Genetic Counselor, Thomas Jefferson University Hospital
Robert Resta, MS, MA, CGC
Genetic Counselor, Hereditary Cancer Clinic Swedish Cancer Institute
Patricia McCarthy Veach, PhD, LP
Professor Educational Psychology, University of Minnesota

Learning Objectives

1. Describe a step-by-step process for turning a thesis or
research project into a manuscript
2. Outline the publishing process
3. Review ethical issues in publishing research

Monday, October 27

P109 Twins’ Perspectives on Living With
Cystic Fibrosis: Lessons Learned

Anabel Stenzel, MS, CGC
Genetic Counselor, Lucile Packard Children’s Hospital at Stanford
Isabel Stenzel Byrnes, MSW, MPH
Genetic Counselor, Consultant

Learning Objectives

1. Increase awareness of the day-to-day lifestyle of people
with cystic fibrosis and the hope that exists for many
genetic disorders like CF due to organ donation
2. Present the psychosocial aspects of genetic illness,
including some helpful coping strategies for families
3. Describe the challenges and gifts of being both a
healthcare provider and a patient

P110 We’re More Alike Than Different:
Having Down Syndrome in 2008

Carlene Mattson
Vice President, National Down Syndrome Congress
Lee Jones
Self Advocate, National Down Syndrome Congress
Karen Gaffney
Self Advocate, National Down Syndrome Congress
Meredith Martin
Self Advocate, National Down Syndrome Congress

Learning Objectives

1. Examine previous understanding of what it means to
have Down syndrome and compare it to the reality of the
lives of the presenters
2. Envision new possibilities for the future of individuals
with Down syndrome
3. Incorporate personal stories of presenters into counseling
patients with a pre- or post-natal diagnosis

P111 Translating Research into Clinical
Practice: What’s New With BRCA1
and BRCA2?

Jeffrey Weitzel, MD
Professor, City of Hope National Medical Center
Steven Narod, MD, FRCPC
Canada Research Chair in Breast Cancer, Professor, University of Toronto

Learning Objectives

1. Recognize genetic and non-genetic modifiers of risk in
BRCA1/2 carriers
2. Describe some of the new risk-reducing options for
BRCA1/2 carriers
3. Incorporate this information into clinical practice
Submitted and sponsored by the Cancer SIG

E301 Model Magic: How to Select
and Utilize the Risk Models in
Clinical Care

Mitchell H. Gail, MD, PhD
Senior Investigator, Biostatistics Branch, Division of Cancer
Epidemiology Genetics, National Cancer Institute
Elizabeth B. Claus, MD, PhD
Professor, Yale University, Attending Neurosurgeon, Brigham and Women’s Hospital
Suzanne O’Neill, PhD, CGC
Clinical Researcher and Genetic Counselor, Evanston
Northwestern Healthcare Center for Medical Genetics
Cecelia Bellcross, PhD, MS, CGC
Clinical Genetic Counselor, Dean Hematology and Oncology Clinic
Jeffrey Weitzel, MD
Professor, City of Hope National Medical Center

Learning Objectives

1. Identify the data points that affect risk calculations and
how they impact the patient’s risk assessment
2. Recognize the benefits, limitations and appropriate
application of risk models
3. Incorporate the information into patient care
Sponsored by the Cancer SIG

E302 Prenatal Diagnosis, Management
and Genetic Counseling for
Congenital Heart Defects

Rachel T. Klein, MS, CGC
Genetic Counselor, Holy Name Hospital
Benjamin Lentzner, MD
Pediatric Cardiologist, UMDNJ-Robert Wood Johnson Medical School
Elena Ashkinadze, MS, CGC
Program Supervisor, Genetics, UMDNJ-Robert Wood Johnson Medical School
Rachel Allen, MS, CGC
Genetic Counselor, Holy Name Hospital

Learning Objectives

1. Review the prenatal development of the fetal heart, the
significance of embryological deviations that result in
congenital heart defects, management and mechanisms of
repair for congenital heart defects and long-term prognosis
of individuals with specific congenital heart defects
2. Apply this knowledge to provide comprehensive patient
care by establishing differential diagnoses, providing
accurate patient education and coordinating appropriate
genetic testing options and follow-up
3. Present and compare published data and unpublished
retrospective data on outcomes of pregnancies diagnosed
with fetal cardiac anomalies

E303 A How-to-Guide: Genetic
Counseling Board Exam 101

Melissa Savage, MS, CGC
Research Coordinator, Columbia University
Christina Giatropoulos, MS, CGC
Prenatal Genetic Counselor, Genzyme Genetics

Learning Objectives

1. Organize and plan appropriately for the Genetic
Counseling Board Exam using past experiences and
advice from several genetic counselors who passed the
most recent board exam
2. Recognize and compare several strategies used as
preparatory measures for the board exam in order to
choose one that works best for each individual
3. Outline the general topics that the presenters found most
appropriate as focus points for studying and to review a
timeline suggested by the presenters

E304 The Role of the Genetic Counselor
in the Era of the $1000 Genome

Jennifer Saam, MS, PhD
Professional Support Specialist, Myriad Genetic Laboratories

Learning Objectives

1. Summarize the current progress in achieving the
$1000 genome
2. Summarize ways in which having a patient’s entire
genome will impact the medical system, especially the
role of the genetic counselor
3. Propose risks and benefits they see when individuals
have access to large amounts of their own genetic data

Tuesday, October 28

E401 PMS2: Clinical Phenotypes of
Monoallelic and Biallelic Mutation
Carriers

Leigha Senter, MS, CGC
Genetic Counselor, The Ohio State University
Spring Holter, MS, CGC
Genetic Counselor, Mount Sinai Hospital

Learning Objectives

1. Describe the clinical features and cancer risks associated
with PMS2-associated Lynch syndrome
2. Identify and distinguish differences between monoallelic
and biallelic PMS2 mutation phenotypes
3. Discuss the appropriate cancer screening strategies for
monoallelic and biallelic PMS2 mutations carriers
Submitted and sponsored by the Cancer SIG

E402 Cystic Fibrosis Newborn
Screening, Diagnosis and
Integration of Genetic Counselors
in the CF Center

Amy Powers, MS, CGC
Genetic Counselor, The Minnesota Cystic Fibrosis Center
Sumedha Ghate, MS, CGC
Genetic Counselor, St. Vincent Hospital

Learning Objectives

1. Describe the methodology of CF newborn screening
among various states
2. List current CF diagnostic criteria, including presentation
of case examples illustrating diagnostic dilemmas
3. Discuss the role of genetic counselors and other CF
Center heath care professionals, emphasizing CF team
dynamics and patient care philosophy

E403 DNA meets DSM: The Interface
Between Genetics and Special
Education

Brenda Finucane, MS, CGC
Executive Director, Genetic Services, Elwyn

Learning Objectives

1. Describe historical and philosophical issues which have
hampered trans-disciplinary collaborations among
professionals in the genetics and special education fields
2. Distinguish behavioral and educational diagnoses, like
ADHD and autism, from genetic diagnoses which reflect
the underlying cause of such symptoms
3. Recognize the spectrum of behavioral and cognitive
features seen in children with genetic syndromes,
the impact of these symptoms on school and family
functioning, and the role of the genetic counselor related
to these issues.

E404 Patient Educational Materials
and Health Literacy: Evaluation
and Development of Educational
Materials that Patients Can
Understand and Use

Nancy Callanan, MS, CGC
Director, MS Genetic Counseling Program, University of North Carolina at Greensboro
Myra Roche, MS, CGC
Associate Professor, University of North Carolina

Learning Objectives

1. Define health literacy and identify strategies for assessing
and meeting the educational needs of low health literacy
populations
2. Recognize barriers that families commonly encounter
while searching for information
3. Develop skills in evaluating and developing patient
educational materials that are easy to understand and are
culturally sensitive

P112 Incorporating Genome-wide
Association Studies (GWAS) into
Genetic Risk Assessment: Current
Practices, Challenges and Future
Directions

Dawn Allain, MS, CGC
Genetic Counselor, The Ohio State University
Steve Lott, PhD, CLSp(MB)
Senior Field Applications Scientist IV, Affymetrix, Inc.
Heather McLeod, MS, CGC
Genetic Counselor, Childrens Healthcare of Atlanta
Elissa Levin, MS, CGC
Director of Genetic Counseling, Navigenics

Learning Objectives

1. Describe the fundamental science behind genomewide
association studies and how to discern robust
associations from the exponentially increasing number of
GWAS publications
2. Explore clinical scenarios in which a patient who has
already had, or is considering having, genome-wide
screening seeks genetic counseling. What are the
important points to convey? Who may or may not be
appropriate for screening? What skills do you need to
ensure you provide accurate information? What resources
are available for GCs and other healthcare professionals?
3. Discuss how to incorporate genome-wide screening
results into standard family history risk assessments

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