Learning Objectives
The 2011Annual Meeting will help attendees to:
- Understand the technology, experimental advances, and clinical application of exome sequencing.
- Appreciate the utility and challenges related to genomic testing and review evolving best practices for delivering complex genomic risk information to patients.
- Understand the interface between clinical genetics and translational genomic research and how new knowledge can be applied to patient care.
- Participate in discussions on ethical issues and controversies related to translating genetic knowledge into healthcare practices.
- Recognize the less commonly known manifestations of Ehlers-Danlos syndrome and other connective tissue disorders.
- Enhance their understanding of the Cardinal Signs of Genetic and Metabolic disease, including current diagnostic approaches and learn how to apply new about new diagnostic testing strategies in the clinical settings.
- Assess the positive and negative aspects of a genomic newborn screen from financial and ethical perspectives, and appraise the current status and future potential of public health policy with regard to newborn screening.
- Discuss the benefits and limitations of microarray analysis in assessing neoplastic tissues, including hematologic disorders and solid tumors.
- Identify the key objectives of a family health history screening tool and recognize the complexities of converting existing family health history guidelines into algorithms suitable for electronic family health history tools.
- Identify and utilize prenatal genetic tests, and post-mortem analyses that should be considered in fetuses with multiple congenital anomalies.
- Describe the current practice in the longitudinal management of individuals with neurofibromatosis type I and identify clinical trials for this common autosomal dominant disorder.
- Understand the genetic and endocrinological aspects of disorders of sex differentiation and apply this knowledge to diagnostic approach and clinical management of patients.
- Understand the mechanisms of the formation of mosaicism, describe current clinical testing strategies, and methods for establishment of recurrence risks for these disorders.
- Appreciate the diverse molecular etiology and neurobiology of monogenic epilepsy, recognize the clinical spectrum of these disorders, and apply knowledge to diagnostic testing.
- Identify the 17 disorders currently on the Ashkenazi Jewish panel, offer appropriate testing, and deliver appropriate counseling to Ashkenazi Jewish individuals.
- Implement genomic in the management, screening, and prevention of cancer.
Target Audience
All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. The ACMG Annual Meeting attendees include:
- Medical and human geneticists
- Physicians of all specialties with an interest in the genetic basis of disease
- Genetic counselors
- Laboratory geneticists, directors, technicians and technologists
- Researchers
- Educators
- Nurses
- Dietitians
- Physician assistants
- Biotechnology and pharmaceutical development professionals
- Fellows, Trainees and Students
- Public health professionals
- Genetic/consumer advocates
- Others with an interest in the science and art of medical genetics