Virtual Events

Planning Committee



	Cynthia C. Morton, Planning Committee Chair William Lambert Richardson Professor of Obstetrics, Gynecology, and Reproductive Biology Professor of Pathology, Harvard Medical School Director of Cytogenetics, Brigham and Women's Hospital

	Gorka Alkorta-Aranburu, PhD Clinical Molecular Fellow The University of Chicago, Genetic Services

	Sally A. Camper, PhD Department of Human Genetics University of Michigan

	Adam M Hott, EdD Digital Applications Lead HudsonAlpha Institute for Biotechnology

	W. Andrew Faucett, MS, LGC Director of Policy and Education Office of the Chief Scientific Officer Geisinger Health System

	Gail P. Jarvik, MD, PhD Head, Division of Medical Genetics The Arno G. Motulsky Endowed Chair in Medicine Professor of Genome Sciences University of Washington Medical Center

	Bob Wildin, MD Chief, Genetic Healthcare Branch NHGRI-NIH

	Cinthya Zepeda, PhD Postdoctoral Research Fellow Morton laboratory Brigham and Women's Hospital Harvard Medical School

	Anthony Antonellis, PhD, Program Committee Liaison Associate Professor of Human Genetics Associate Professor of Neurology University of Michigan Medical School Department of Human Genetics

	Jean F. Jenkins, PhD, RN, FAAN, Nursing Curriculum Advisor Clinical Advisor, Division of Policy, Communications, and Education NHGRI, NIH

ASHG Staff Contacts:
General information: Lucia P. Barker, Ph.D., ASHG Scientific Program Manager. lbarker@ashg.org Exhibit information: Carrie Morin, CEM, ASHG Exhibits, Sponsorship, and Meeting Marketing Manager. cmorin@ashg.org Communications: Nalini Padmanabhan, MPH, ASHG Communications Manager. NPadmanabhan@ashg.org

ASHG Board of Directors ASHG Program Committee

MAR 22, 2016

GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW

Applying the Latest Genetics Findings to Your Practice
An ASHG Global Virtual Meeting, March 22, 2016
5am Pacific, 8am Eastern, 1pm GMT

Primary audience: Primary care clinicians

Other audiences: All health care professionals, including genetic counselors, PAs, LPNs, NPs, RNs, clinical geneticists, physicians in practice, genetics researchers, and others

As we learn more about the contribution of genetic and genomic factors to the origin, natural history, and treatment of human disease, clinicians are assuming more responsibility for ordering genetic tests for their patients. This, plus the emergence of Precision Medicine and the growing availability of direct-to-consumer genetic tests, adds to the need for clinicians to understand available tests and how to use them. Increasingly often, health care professionals are expected to:

Understand the utility and significance of these tests
Provide appropriate pre-test education and counseling
Convey test results in an informative and compassionate way
Use the results in patient management

In this free virtual meeting organized by the American Society of Human Genetics, physicians and other health care professionals will learn from human genetics experts about:

Genetic technologies currently available for use in the clinic
The limitations of these technologies
Information in personal and family histories that indicate a need for genetic testing
How to interpret results in ways most useful to the patient
When to refer to specialized genetic services

Participants will also receive a Genetics Tool Kit, which will include all meeting slide sets, links to relevant information from professional societies, directories of genetic testing providers and medical genetics specialists, and resources for physicians and patients. One 45-minute session will provide identical content in English and Spanish, and resources in both languages will be available in the Tool Kit.

This meeting will be free of charge to participants. Continuing education credits, including free CME credits, will be offered. Please Click here for more information on how to obtain your credits.

Speakers

Cynthia C Morton, PhD

Professor, Harvard Medical School, Director of Cytogenetics, Brigham and Women's Hospital
BIOGRAPHY
Bruce R. Korf, MD, PhD

Professor and Chair, Department of Genetics, Director, Heflin Center for Genomic Sciences, UAB
BIOGRAPHY
Katherine A Rauen, MD, MS, PhD

Professor, Department of Pediatrics; Chief, Division of Genomic Medicine, UC Davis
BIOGRAPHY
Robert Nussbaum, MD

Clinical Professor, UCSF School of Medicine; Chief Medical Officer, Invitae Corp
BIOGRAPHY
Fuki Marie Hisama, MD, FACMG, FAAN

Professor, Dept of Medicine, Director, Division of Medical Genetics, University of Washington
BIOGRAPHY
Eric Konnick, MD, MS

Acting Assistant Professor, Department of Laboratory Medicine, University of Washington
BIOGRAPHY
Laura Amendola, MS CGC

Licensed Genetic Counselor, Division of Medical Genetics, University of Washington Medical Center
BIOGRAPHY
Heidi L. Rehm, PhD, FACMG

Director, Genomic Medicine Unit, Center for Genomic Medicine, MGH, Chief Genomics Officer, Department of Medicine, MGH, Co-Director, Medical and Population Genetics, Broad Institute; Medical Director, Broad Clinical Laboratory, Professor of Pathology, Harvard Medical School
BIOGRAPHY
Carlos A. Bacino, MD

Chief, Genetics Service, Texas Children's Hosp; Medical Director, Cytogenetics Laboratory, Baylor
BIOGRAPHY
Jean F. Jenkins, PhD, RN, FAAN

Clinical Advisor, Division of Policy, Communications, and Education, NHGRI, NIH
BIOGRAPHY

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MAR 22, 2016 12:45 PM PDT

Turnkey resources: The Genetics Tool Kit
Jean F. Jenkins, PhD, RN, FAAN

Clinical Advisor, Division of Policy, Communications, and Education, NHGRI, NIH
BIOGRAPHY
Genomic Medicine is an incredibly fast moving field awash in information. Successful practice requires ongoing access to authoritative and regularly-updated, yet focused resources for both providers and patients. Many resources are available on the web. This session highlights and demonstrates several key resources from this meeting’s resource toolkit that are particularly valuable sources of information and education needed for competent (and confident) patient-provider interactions involving genes and genomes.

Learning Objectives:

Locate two authoritative web resources helpful for providers and patients for learning about specific rare disorders.

Identify online information that is systematically evaluated and presented in a structured format that helps interpret a DNA sequence variant for clinical validity.
Watch Webinar
MAR 22, 2016 11:30 AM PDT

Tu nuevo mejor amigo: Tu relación con el laboratorio de genética
Carlos A. Bacino, MD

Chief, Genetics Service, Texas Children's Hosp; Medical Director, Cytogenetics Laboratory, Baylor
BIOGRAPHY
Esta sesión le brindara ejemplos de estudios genéticos que son frecuentemente solicitados y que información pueden brindar al medico y al paciente.
Los conferencistas explicaran el proceso de los estudios desde la toma de la muestra hasta el informe final, así como el seguimiento clínico. Los tipos de muestras y la información necesaria para ordenar un estudio genético serán también descriptos. Los métodos usados en el laboratorio para realizar los estudios genéticos serán explicados así como el tipo de resultados obtenidos. Ejemplos de informes de estudios genéticos y el vocabulario normalmente utilizado en esos informes será discutido, incluyendo términos como VUS (del ingles: variantes de significado incierto), variantes patogénicas, y variantes benignas. Ejemplos de cómo el informe genético será utilizado para ayudar al cuidado medico serán discutidos. Las limitaciones de los estudios serán discutidas, así como las limitaciones en la interpretación de los resultados. Los enfoques que los médicos, pacientes y laboratorios pueden adoptar para mejorar los estudios de laboratorio y su interpretación serán presentados con ejemplos prácticos de cómo estos abordajes pueden ayudar a cada uno de los pacientes.

Objetivos del aprendizaje

Describir que tipo de estudios genéticos son comúnmente efectuados, y que es lo que pueden o no pueden determinar.

Leer y comprender los resultados de los estudios genéticos/genómicos mas típicos, así como también el rol del paciente y su medico para mejorar su interpretación.
Watch Webinar
MAR 22, 2016 11:30 AM PDT

Your New Best Friend: Building a Relationship with the Genetics Laboratory
Heidi L. Rehm, PhD, FACMG

Director, Genomic Medicine Unit, Center for Genomic Medicine, MGH, Chief Genomics Officer, Department of Medicine, MGH, Co-Director, Medical and Population Genetics, Broad Institute; Medical Director, Broad Clinical Laboratory, Professor of Pathology, Harvard Medical School
BIOGRAPHY
This session will give examples of the types of genetic tests that are most often ordered and what those tests are generally able to tell the physician and patient. The speakers will walk through the typical processes from sample collection to receipt of a report as well as typical follow-up of results. The types of specimens and information typically needed to order a genetic test will be described. The methods used in the laboratory to perform the genetic tests will be explained as well as the types of results that are found. Example genetic test reports and common vocabulary used will be shown and explained including variant interpretation terms such as VUS, pathogenic, and benign. Examples of how the genetic test report may be used to guide care will be provided. The limitations of testing will be explained including current limitations in the interpretation of genetic results. Approaches that physicians, patients and laboratories can take to improve test results and interpretations will also be presented with examples of how these approaches help individual patients.

Learning Objectives:

Describe the types of genetic testing typically performed and what they can and cannot tell you.

Read and interpret a typical genetic/genomic test report and understand the role of the patient and physician in helping improve test results
Watch Webinar
MAR 22, 2016 9:30 AM PDT

Tales from the Clinic
Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been discovered, medical genetics has grown beyond the traditional settings of prenatal and pediatric care, and now plays an important role in neurology, oncology, cardiology, preventive care, and precision medicine. Medical genetics providers include: physicians who are board-certified in clinical genetics, genetic counselors, who are master’s level professionals, and clinical laboratory directors, who may hold either an M.D., or a Ph.D. This session will feature a panel consisting of a three experienced genetics professionals from the University of Washington in Seattle (UW). The Genetic Medicine Clinic at UW was founded in 1959, and one of the oldest, largest, and most diverse genetics clinics for adults in the country. The Clinic serves >2,300 patients per year, including >1,000 cancer genetic patients, and >500 neurogenetic patients.
Dr. Hisama, Ms. Amendola and Dr. Konnick will present some of their memorable or challenging cases, highlight the “team approach” and contributions of each of their specialties to patient care, and answer questions about cases submitted from the virtual meeting attendees in real time.
This session is designed for health care providers to become familiar with situations when a patient can benefit from genetic consultation, and the different roles of board-certified genetics professionals.

Learning Objectives:

Participate in a clinical case conference regarding patients with genetic conditions.

Describe at least two implications of genetic testing for medical care.

Discuss clinical scenarios where genetic evaluation is indicated, and some scenarios where it is not useful.
Watch Webinar
Fuki Marie Hisama, MD, FACMG, FAAN
Professor, Dept of Medicine, Director, Division of Medi...

Eric Konnick, MD, MS
Acting Assistant Professor, Department of Laboratory Me...

Laura Amendola, MS CGC
Licensed Genetic Counselor, Division of Medical Genetic...
MAR 22, 2016 8:15 AM PDT

The Top Ten Laboratory Tests
Genetic testing has been an important component of medical care for decades but the breadth and impact of testing has been steadily increasing as medical knowledge increases, appreciation of clinical utility expands, and the cost of DNA sequencing falls. In this session, two geneticists, Dr. Katherine Rauen, who specializes in pediatric genetics, and Dr. Robert Nussbaum, who specializes in adult genetic disorders, will present their “Top Ten” scenarios for which genetic testing is indicated. Conditions were chosen based on their frequency and the likelihood that they would be seen by general pediatricians and internists, including developmental delay, autism, hereditary breast and ovarian cancer, hereditary colon cancer, and others. The session will cover a broad spectrum of genetic testing, emphasizing appropriate testing for different indications and highlighting the strengths and weaknesses of different testing modalities.

Learning Objectives:

Describe which aspects of a patient’s history and family history raise the possibility of a hereditary condition for which genetic testing would be indicated and how genetic testing would help in the care of the patient and family.

Recognize that different genetic tests are relevant and appropriate for different indications, reflecting the strengths and limitations of different types of testing.
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Katherine A Rauen, MD, MS, PhD
Professor, Department of Pediatrics; Chief, Division of...

Robert Nussbaum, MD
Clinical Professor, UCSF School of Medicine; Chief Medi...
MAR 22, 2016 7:00 AM PDT

From History to Action

Bruce R. Korf, MD, PhD

Professor and Chair, Department of Genetics, Director, Heflin Center for Genomic Sciences, UAB
BIOGRAPHY

Family history can be viewed as the first stop in the assessment of genetic risks for any individual. For many genetic disorders there will be no obvious signs of symptoms until significant medical problems surface, so family history may be the only way to identify individuals at risk. This in turn can lead to a program of surveillance and management to mitigate the effects of the condition. Although the gold standard is a three-generation pedigree, many patients will not have all of the relevant information at their fingertips at the time of a clinic visit, and eliciting a full pedigree can be time-consuming; nevertheless, a set of pointed questions can identify risk for some of the more common conditions for which genetic testing is available. These include disorders that lead to an increased risk of cancer, sudden death due to cardiac dysfunction, hyperlipidemia, adverse drug reactions, and others. Recognition of the major patterns of genetic transmission, i.e., dominant and recessive, autosomal and sex-linked can reveal individuals and family members at risk who may benefit from genetic testing. Genetic testing itself is a process, beginning with recognizing the most appropriate test, explaining the risks, benefits, and limitations of testing to the patient, selecting an appropriate laboratory, and organizing testing with the laboratory. In some cases, this may be done by a non-genetic specialist, whereas in others the complexity of ordering and interpreting tests warrants involvement of a genetics specialist. In either case, the clinician needs to be prepared to help interpret the results in light of the family history and clinical presentation and to support the patient in future management and decision-making. Genetic test results may also have implications for other family members, which also need to be factored into pre- and post-test counseling.

Watch Webinar

Speakers Share

Cynthia C Morton, PhD

Professor, Harvard Medical School, Director of Cytogenetics, Brigham and Women's Hospital

BIOGRAPHY
Bruce R. Korf, MD, PhD

Professor and Chair, Department of Genetics, Director, Heflin Center for Genomic Sciences, UAB

BIOGRAPHY
Katherine A Rauen, MD, MS, PhD

Professor, Department of Pediatrics; Chief, Division of Genomic Medicine, UC Davis

BIOGRAPHY
Robert Nussbaum, MD

Clinical Professor, UCSF School of Medicine; Chief Medical Officer, Invitae Corp

BIOGRAPHY
Fuki Marie Hisama, MD, FACMG, FAAN

Professor, Dept of Medicine, Director, Division of Medical Genetics, University of Washington

BIOGRAPHY
Eric Konnick, MD, MS

Acting Assistant Professor, Department of Laboratory Medicine, University of Washington

BIOGRAPHY
Laura Amendola, MS CGC

Licensed Genetic Counselor, Division of Medical Genetics, University of Washington Medical Center

BIOGRAPHY
Heidi L. Rehm, PhD, FACMG

Director, Genomic Medicine Unit, Center for Genomic Medicine, MGH, Chief Genomics Officer, Department of Medicine, MGH, Co-Director, Medical and Population Genetics, Broad Institute; Medical Director, Broad Clinical Laboratory, Professor of Pathology, Harvard Medical School

BIOGRAPHY
Carlos A. Bacino, MD

Chief, Genetics Service, Texas Children's Hosp; Medical Director, Cytogenetics Laboratory, Baylor

BIOGRAPHY
Jean F. Jenkins, PhD, RN, FAAN

Clinical Advisor, Division of Policy, Communications, and Education, NHGRI, NIH

BIOGRAPHY

Sponsors & Partners Share

For information on becoming a sponsor or exhibitor, please click here.

MedCompGx

MedCompGx is a molecular diagnostics company that leverages bleeding-edge technology and partnership with industry experts to provide tests that optimize patient care. The pharmacogenetics panels offered by MedCompGx can predict which medications are more likely to result in ...
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The American Society of Human Genetics (ASHG)

The American Society of Human Genetics (ASHG), founded in 1948, is the primary professional membership organization for human genetics specialists worldwide. The Society's nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals ...
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The National Society of Genetic Counselors (NSGC)

The National Society of Genetic Counselors (NSGC) advances the various roles of genetic counselors in health care by fostering education, research, and public policy to ensure the availability of quality genetic services. Networking, continuing education and the discussion of ...
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The National Human Genome Research Institute (NHGRI)

The National Human Genome Research Institute (NHGRI) is an international leader in genomics research. NHGRI develops resources, technologies and policies for advancing genomics and its application to improving human health. NHGRI, a part of the National Institutes of Health, also ...
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The American College of Medical Genetics and Genomics (ACMG)

Founded in 1991, ACMG is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics. The American College of Medical Genetics and Genomics (www.acmg.net) provides education, resources and a voice for ...
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The Jackson Laboratory (JAX)

At The Jackson Laboratory (JAX), an independent 501(c) 3 nonprofit organization with over 85 years of experience in genetics and genomics research, we are accelerating disruptive scientific breakthroughs tailored to the needs of individual patients and closing in on the genetic ...
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Continuing Education (CME/CE/CEU) Credits Share

The speakers below have been approved for Continuing Education Credits. To redeem your credits, locate the presentation you watched and click on the CE buttons for further direction. For more general information regarding continuing education, the processes to receive credits, and the accreditation bodies, Click here

MAR 22, 2016 7:00 AM PDT

From History to Action

Bruce R. Korf, MD, PhD

Professor and Chair, Department of Genetics, Director, Heflin Center for Genomic Sciences, UAB

Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW

CE

CEU

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GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW

Cynthia C Morton, PhD

Bruce R. Korf, MD, PhD

Katherine A Rauen, MD, MS, PhD

Robert Nussbaum, MD

Fuki Marie Hisama, MD, FACMG, FAAN

Eric Konnick, MD, MS

Laura Amendola, MS CGC

Heidi L. Rehm, PhD, FACMG

Carlos A. Bacino, MD

Jean F. Jenkins, PhD, RN, FAAN

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