2009 Annual Educational Conference

Please see below for detailed session information. For a list of all activities at the 28th Annual Educational Conference, please go to the Schedule-at-a-Glance.

Thursday, November 12

Pre-Conference Symposia (101-106)

Rebecca Kern, MGC, CGC, Kennedy Krieger Institute
Andrea Atherton, MS, CGC, Children’s Mercy Hospitals and Clinics
Bruce Cohen, MD, Neurological Institute – Cleveland Clinc
Richard Kelley, MD, PhD, Kennedy Krieger Institute
Charles Hoppel, MD, Center for Inherited Disorders of Energy Metabolism
Eric S. Schmitt, PhD, CGC, Baylor College of Medicine, Medical Genetics Laboratories

Learning Objectives

1. Recognize the broad clinical spectrum of mitochondrial disorders and review the current status of treatment options
2. Review the various tests and tools used in a work-up for mitochondrial disease
3. Describe how to conduct a work-up for mitochondrial disease

Submitted and Sponsored by the Metabolism/LSD SIG

Stephanie Cohen, MS, CGC, St. Vincent Hospital Center for Cancer Care
Susan Manley, MS, CGC, Myriad Genetics
Kathryn Stoeckert, MA, Dana Farber Cancer Institute
Julia Smith, MD, PhD, New York University Medical Center
Deborah Wham, MS, CGC, St Luke’s Medical Center
Wendy Kohlmann, MS, CGC, Huntsman Cancer Institute
Beth Peshkin, MS, CGC, Georgetown University Medical Center
Mary Freivogel, MS, CGC, Informed Medical Decisions
Erin Chludzinski, BA, The Ohio State University Comprehensive Cancer Center
Molly Daniels, MS, CGC, MD Anderson Cancer Center
Lisa Kessler, MS, CGC, DNA Direct
Dawn McIlvried, MS, CGC, St. Vincent Hospital Center for Cancer Care

Learning Objectives

1. Explain current trends and practices in cancer genetic risk assessment and testing
2. Examine a number of alternative service delivery models for cancer genetic counseling and their effectiveness
3. Discern new ways to utilize the expertise of genetic counselors and adapt the practice to more effectively meet patient and provider needs

Sponsored by The Cancer SIG

M. Michael Barmada, PhD, University of Pittsburgh
Andy Faucett, MS, CGC;
Debra Lochner Doyle, MS, CGC, WA State Department of Health
Emily Edelman, MS, Cleveland Clinic Genomic Medicine Institute
Erynn Gordon, MS, CGC, Coriell Institute for Medical Research
Elissa Levin, MS, CGC, Navigenics
Julianne O’Daniel, MS, CGC, Duke Institute for Genome Sciences and Policy
Maren Scheuner, MD, MPH, FACMG, RAND Corporation
Maki Moussavi, MS

Learning Objectives

1. Review background knowledge regarding key elements for genome-informed medicine
2. Describe the key components of a genomic counseling session as demonstrated by examples of current models and identify professional and societal issues associated with the advancement of genomic counseling
3. Explore genomic counseling case scenarios for a deeper understanding of the clinical application, psychosocial issues, benefits and limitations

Elizabeth Kearney, MS, MBA, CGC, Marketing Consultant
Karen Copeland, CGC, Myriad Genetic Laboratories
Kimberly Banks, MS, CGC, St. Joseph Hospital
Leslie Cohen, MS, CGC,University Hospitals Case Medical Center
Deborah Wham, MS, CGC, St. Luke’s Medical Center

Learning Objectives

1. Recognize how basic marketing principles can be used to promote and expand genetic counseling services
2. Outline how a successful business plan can work for a genetic counseling program or practice
3. Identify the different modalities one can use to bill for genetic counseling services in order to achieve successful reimbursement

105: Lysosomal Storage Diseases throughout the Life Cycle

Barbara K. Burton, MD, Northwestern University Feinberg School of Medicine
Paul M. Fernhoff, MD, Emory University School of Medicine
S. Raja Laskar, MD, Emory University School of Medicine/Emory Healthcare
Kendra Bjoraker, PhD, LP, University of Minnesota
Dawn Laney, MS, CGC, Emory University
John Barranger, MD, PhD, University of Pittsburgh

Learning Objectives

1. Describe recent developments in the diagnosis, management and treatment of patients with lysosomal storage diseases
2. Apply life-stage-appropriate counseling strategies for patients with chronic genetic diseases
3. Explain the scientific rationale for present and future approaches to treatment for this group of more than 40 diseases

Submitted and Sponsored by The Metabolism/LSD SIG and an educational grant from Genzyme

Friday, November 13

Learning Objectives

1. Explain and describe the mechanism of PARP inhibitors, platinum-based and other chemotherapies
2. Discuss how PARP inhibitors, platinum-based and other chemotherapies relate to the BRCA genes
3. Outline basic information on how clinical trials are performed

Thomas Morgan, MD, Vanderbilt Pediatric Medical Genetics

Learning Objectives

1. Review genetic syndromes presenting with congenital heart defects
2. Discuss genetic testing and counseling in the setting of CHD
3. Report on recent progress and methodology in CHD research

Marylyn Ritchie, PhD, Vanderbilt University Medical Center

Learning Objectives

1. Review current use of Genome Wide Association Studies
2. Discuss the important aspects for genentic counselors and families for GWAS
3. Identify potential clinical applications of GWAS with current and future research

Janus Series (204-206)

Lindsay Middelton, RN, CGC, National Institutes of Health, National Cancer Institute, Urologic Oncology Branch

Learning Objectives

1. Recognize four rare inherited disorders and associate putative genes with dominantly inherited kidney cancer
2. Identify the non-renal manifestations of von Hippel-Lindau (VHL), Birt-Hogg-Dubé (BHD) and Hereditary Leiomyomatosis Renal Cell Carcinoma (HLRCC)
3. Distinguish the renal tumor histology associated with the four inherited kidney cancer syndromes


205: Inspiration for Respiration: How to Recognize and Handle Lung Disease in the Genetic Counseling Pedigree

Lori Ross, MS, CGC, Ambry Genetics

Learning Objectives

1.Recognize potential diseases via patient’s description of symptoms and inheritance pattern
2. Demonstrate knowledge and confidence in eliciting history and determining appropriate follow-up questions during a counseling session
3. Evaluate potential yield and benefit to genetic testing for each disease

Carrie Atzinger, MS, CGC, Cincinnati Children’s Hospital Medical Center, Division of Human Genetics

Learning Objectives

1.Describe the clinical manifestations of hypermobile Ehlers-Danlos syndrome including symptoms in and outside the joints
2. Describe the management of symptoms for individuals with hypermobile Ehlers-Danlos syndrome and familial hypermobility
3. Recognize the psychosocial concerns of individuals with hypermobile Ehlers-Danlos syndrome

207: Best Abstract Award

Beth Fine Kaplan Best Student Abstract Award
Adaptation and Quality of Life Among Adults with Neurofibromatosis Type 1: The Role of Depression, Illness Perceptions, and Social Stigma
Julie S. Cohen

Learning Objectives

1. Recognize the conceptual relationship between quality of life and adaptation
2. Discuss the role of illness perceptions as a perdictor of quality of life and adaptation among adults with NF1
3. Identify potential targets for counseling interventions aimed at enhancing quality of life for adults with NF1

Best Full Member Abstract Award
Motivations and Perceptions of Participants in a Personal Genomics Study
Erynn S. Gordon

Learning Objectives

1. Identify patient's perceived benefits of personalized medicine
2. Recognize misperceptions related to personalized medicine
3. Categorize motivations for pursuing personalized medicine

208: Sponsored Lunch Session: GeneDX - Putting the Pieces Together: Clinical and Laboratory Collaborations to Solve the Diagnostic Puzzle
Liz Butler, MS, CGC
Amy Fuller, MS, CGC

Learning Objectives

1. Recognize the benefits of new molecular diagnostic technologies, such as NextGen sequencing, pyrosequencing, and resequencing trays.
2. Express how these technologies can be applied in the diagnosis of inherited cardiac disorders, mental retardation syndromes, mitochondrial disorders, and common genetic disorders such as Noonan Syndrome.
3. Identify the different technologies available today used for deletion/duplication identification, such as quantatative PCR, MLPA, ExonArray and different applications of array comparative genomic hybridization (aCGH)
4. Determine which technology will provide the most useful clinical information depending on the scenario.
5. Describe how a variant of unknown significance is classified and systematically analyzed to determine pathogenecity
6. Describe the need for follow-up testing of appropriate family members and the sharing of relevant clinical information for these individuals

Educational Breakout Sessions (209-212)

Linda Robinson, MS, CGC, UT Southwestern Medical Center
Sara Pirzadeh, MS, CGC, UT Southwestern Medical Center
Pia Banerji, MS, CGC, UT Southwestern Medical Center
Sarah Zentack, ScM, CGC, UT Southwestern Medical Center

Learning Objectives

1. Create your own marketing plan to promote genetic services in your state or practice
2. Outline how to develop a marketing needs assessment plan for your practice
3. Apply the lessons learned from other genetic counselors in creating a genetic awareness campaign

Allison M. Grimes, AuD, BC, UCLA Medical Center, David Geffen School of Medicine at UCLA
Carol Walton, MS, CGC, University of Colorado Denver
Kathleen Valverde, MS, CGC, Arcadia University
Robin Grubs, PhD, CGC, University of Pittsburgh

Learning Objectives

1. Describe the development and implementation of advanced degrees in other allied health professions
2. Recognize the historical context of the discussion of advanced degrees for genetic counselors
3. Identify current issues surrounding the development of an advanced degree, whether a clinical doctorate or a PhD

Brandie Leach, MS, CGC, Cleveland Clinic
Mary Bronner, MD, Cleveland Clinic
Carol Burke, MD, FACG, FACP, Cleveland Clinic

Learning Objectives

1. Distinguish the complexity associated with establishing polyp histology and incorporate this information into the development of a differential diagnosis
2. Describe the gastrointestinal surveillance and medical management recommendations for patients with hereditary polyposis syndromes
3. Examine the genetic counseling issues that commonly arise in patients with hereditary polyposis syndromes

Sponsored by The Cancer SIG

Carol Barnewolt, MD, Children’s Hospital Boston
Lori Dobson, MS, CGC, Children’s Hospital Boston
Sean Blackwell, MD, University of Texas Health Science Center at Houston

Learning Objectives

1. Define the role of fetal MRI in a prenatal diagnosis clinic and recognize cases where fetal MRI is indicated
2. Describe the role of fetal MRI in the context of brain malformations and craniofacial abnormalities
3. Illustrate applications of fetal MRI to the clinical practice of prenatal genetic counseling

213: Sponsored Evening Session: Boulder Abortion Clinic - Termination of Pregnancy for Indications of Genetic Disorder and Fetal Abnormality in Advanced Gestations at Boulder Abortion Clinic
Warren M. Hern, MD, MPH, PhD

Learning Objectives

1. Discuss the relevance of these services to genetic counseling
2. Describe the purpose, basic principles, and components of clinical practice including grief support
3. Outline the basic operative procedures and clinical results of this care

Saturday, November 14

301: Sponsored Breakfast Session: Genzyme - Array CGH - The Current State of an Advancing Technology
Melody Kohan, MS, CGC
Ronald Wapner, MD

Learning Objectives

1. Define the unique aspects of Array CGH
2. Review the advantages of use in prenatal testing
3. Identify the data concerning Array CGH in the postnatal setting
4. Summarize information about the NIH study which compares Array CGH to conventional cytogenetics
5. Recognize the potential for genetic counselors' contribution in microarraytsting and interpreting results in prenatal and postnatal settings

302: Professional Issues Panel

Plenary Session 303: Phenotype and Genetics of Cleft Lip and Cleft Palate

Mary L. Marazita, PhD, University of Pittsburgh

Learning Objectives

1. Describe the current findings from genetic and phenotypic studies of nonsyndromic orofacial clefts(cleft lip and cleft palate)
2. Generalize methods for dissecting etiologically complex human conditions
3. Describe and categorize sub-clinical phenotypes found within orofacial cleft families

Contributed Papers 304-307
304: Cancer

Learning Objectives

1. Identify the latest developments in testing for inherited cancer predispositions
2. Discuss issues that are specific and unique to individuals with an inherited cancer disposition

Learning Objectives

1. Recognize the professional and personal experiences of genetic counselors
2. Discuss the experiences of students in genetic counseling programs

Learning Objectives

1. Discuss latest developments in teh field of diagnostic testing
2. Outline genotype-phenotype correlations for selected genetic conditions
3. Review the role of genetic testing in public health.

Sponsored Lunch Session 308 - Texas Children's Fetal Center - Fetal Surgery: Salvaging Good Outcomes from Bad Conditions
Darrell Cass, MD

Learning Objectives

1. Discuss the rationale of fetal surgery for life-threatening or life-altering malformations
2. Recognize the importance of accurate prenatal diagnosis in proper identification of patients that may benefit from fetal surgery
3. Explain the rationale and outcomes of fetal surgery for specific malformations

Educational Breakout Sessions 309-312

309: If At First You Don’t Succeed...

Jehannine Austin, PhD, CGC, CCGC, University of British Columbia
Patricia McCarthy Veach, PhD, University of Minnesota
Bonnie LeRoy, MS, CGC, University of Minnesota
Christina Palmer, MS, PhD, CGC, UCLA
Toni Pollin, MS, PhD, University of Maryland School of Medicine

Learning Objectives

1. Identify whether reviewers are likely to respond well to a carefully revised resubmission or whether they appear to regard the submission as fundamentally flawed
2. Apply new knowledge about how to respond to reviewers’ comments to optimally address critique of grant applications and peer-reviewed journal article submissions
3. Describe strategies that other counselors have used to help them deal with a rejection of a manuscript or grant submission

310: Developing Effective Educational Strategies for Primary Care

Angela Trepanier, MS, CGC, Wayne State University
Gregory Feero, MD, PhD, National Human Genome Research Institute
Holly Peay, MS, CGC, NCHPEG
Therese Ingram Nissen, MA, NCHPEG

Learning Objectives

1. Recognize the specific educational needs of various primary care providers including physician assistants, family practice physicians and nurses
2. Develop effective medical genetics educational resources that are tailored to the needs of the target primary care audience in terms of content, format and design
3. Identify existing educational resources that can be incorporated into educational outreach opportunities

311: Cancer Genetics Curbside Consult

Wendy S. Rubinstein, MD, PhD, FACMG, FACP, NorthShore University Health System
John J. Mulvihill, MD, University of Oklahoma Health Sciences Center
Henry T. Lynch, MD, Creighton University
Richard Sharp, PhD, Cleveland Clinic, Department of Bioethics
Noralane M. Lindor, MD, Mayo Clinic

Learning Objectives

1. Discuss difficult cases that are relatively common in cancer genetic counseling
2. Review the pertinent literature related to each difficult case
3. Identify ethical dilemmas that can commonly occur with cancer genetic counseling

Submitted and Sponsored by The Cancer SIG

312: Every Day SMA: A Workshop on Genetic Counseling for Spinal Muscular Atrophy

Thomas W. Prior, PhD, The Ohio State University
Kathryn J. Swoboda, MD, University of Utah School of Medicine
Katie Ziegler, MS, CGC, The Ohio State University Medical Center
Elaine Sugarman, MS, CGC, Genzyme Genetics

Learning Objectives

1. Describe the types of spinal muscular atrophy, the molecular genetic mechanisms involved and the latest advancements made in the area of carrier screening
2. Identify and describe the role played by the SMN2 gene and how it can affect the clinical expression of spinal muscular atrophy
3. Apply knowledge gained from the workshop to unique counseling sessions

Submitted and Sponsored by The Prenatal SIG

Sponsored Evening Seminar - Sequenom Center for Molecular Medicine - A New Trend in Cystic Fibrosis Carrier Screening and New Applications in Prenatal Testing

Nancy Owen Patterson Phillips, MD

Learning Objectives

1. Review the benefits of how expanded CF panels may provide increased sensitivity of CF carrier secreening for certain ethnic groups
2. Summarize the benefits of detecting ccff in maternal blood and how the technology can be applied clinically
3. Review the issues and impact this can have on patient management

Sunday, November 15

401: Sponsored Breakfast Session: Shire HGT - Lysosomal Storage Disease Counseling Through the Ages and Stages
Heather Clark, MS, CGC
Shawn Lipinski, MSc

Learning Objectives

1. Describe the key issues in counseling for pediatric patients with progressive neurodegenerative diseases
2. Recognize the challenges in counseling for adult patients with lysosomal storage diseases for which there are multiple treatment and management options
3. Apply tactics from a case based presentation to clinical practice

Contributed Papers 402-405

Learning Objectives

1. Outline genetic counseling issues specific to the area of pediatric genetic couneling

Learning Objectives

1. Identify and discuss current issues relating to billing and reimbursement, direct-to-consumer marketing and regulation of genetic counselors
2. List potential new roles for genetic counselors in clinical settings

Learning Objectives

1. List communication patterns within the genetic counseling session
2. Identify your consumers' perceptions with regard to receiving and sharing genetic testing results.

Learning Objectives

1. Discuss attitudes, beliefs and perceptions of consumers living with a genetic disorder
2. Describe the experiences and concerns of consumers of genetic services

Educational Breakout Sessions 406-409

406: Adoption: Considerations for Genetic Counseling

Cassandra Perry, MS, University of Massachusetts Medical School Office of Foster Care and Adoption
Martha Henry, PhD, University of Massachusetts Medical School Office of Foster Care and Adoption

Learning Objectives

1. Discuss the role of adoption in various settings of the genetic counseling field, from cases of prenatal diagnosis to pediatric and adult counseling sessions
2. Describe the importance of the roles and responsibilities of genetic counselors as they pertain to adoption, including the accurate presentation of adoption as an equal option, the use and importance of adoption-sensitive language and referral to appropriate adoption resources
3. Model equal presentation of the option of adoption to patients experiencing a prenatal diagnosis, while remaining non-directive, using adoption-sensitive language and providing appropriate adoption-related resources and referrals to patients facing decisions about a pregnancy

407: Microarrays: Tools for Genetic Counselors

S. Annie Adams, MS, CGC, Signature Genomic Laboratories, LLC
Samantha Baxter, MS, CGC, Partners Center for Personalized Genetic Medicine
Devon Lamb Thrush, MS, CGC, Nationwide Columbus Children’s Hospital
Jennifer Ruschman, MS, CGC, Cincinnati Children‘s Hospital Medical Center
Kerry Shooner, MS, CGC, Cincinnati Children’s Hospital

Learning Objectives

1. Describe a variety of microarray technologies and applications both to genetics colleagues and to patients
2. Utilize online databases to gather clinical information on an abnormal microarray result
3. Predict counseling issues that might arise in clinic based on case examples

408: Getting to the Heart of the Matter: Cardiac Genetics for the Non-Cardiac Counselor

Sara Fitzgerald-Butt, MS, CGC, The Research Institute and Nationwide Children’s Hospital
Amy Curry Sturm, MS, CGC, The Ohio State University Medical Center
Cecile Skrzynia, MS, CGC, UNC Chapel Hill

Learning Objectives

1. Describe basic cardiac anatomy and function in addition to the various imaging/testing/procedures commonly used to assess and treat heart disease
2.Outline the methods used to obtain a family history of cardiac disease (to include coronary artery disease, cardiomyopathy, arrhythmia, and aortic disease) frequently found in general genetic counseling sessions and determine whether further evaluation is warranted
3. Review the distinctive psychosocial needs of patients and families at risk for, or diagnosed with inherited cardiac conditions, and the genetic counseling skills that can be employed (case examples will be used to illustrate these concepts)

Submitted by The Cardiovascular SIG

409: Transitioning from Graduate Student to Practicing Genetic Counselor: What are the Challenges and How Does One Cope?

Steve Keiles, MS, CGC, Ambry Genetics
Dawn Allain, MS, CGC, Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, Division of Human Genetics, The Ohio State University

Learning Objectives

1. Describe some of the challenges faced when transitioning from a genetic counselor in training to an employed practicing genetic counselor
2. Conduct employment negotiations with potential employers
3. Identify ways to better anticipate and prepare for challenges during transition

Plenary Session 411: Jane Engelberg Memorial Fellowship (JEMF) Presentation

Plenary Session 412: Dr. Beverly Rollnick Memorial Lecture - New Tricks for an Old Tool: Family Health History in the Era of Electronic Health Records

Gregory Feero, MD, PhD, National Human Genome Research Institute

Learning Objectives

1. Describe ongoing federal activities that examine and expand the utility of family history as a healthcare tool
2. Access and direct patient use of the U.S. Surgeon General’s My Family Health Portrait family history tool
3. Describe the state of evidence surrounding the use of family history as a screening tool for common complex conditions

413-414: Late Breaking Concurrent Papers

Learning Objectives

1. Describe the billing code 96040 for genetic counseling services
2. Outline the requirements necessary for "indicident to" billing
3. Assess whether this billing strategy may be applicable in their own center

Learning Objectives

1. Describe the advantages of prenatal Array CGH testing
2. Describe the limitations of prenatal array CGH testing
3. Assess the implications of genetic counselor attitudes toward prenatal array CGH testing on patient care

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