2012 ACMG Annual Clinical Genetics Meeting

Learning Objectives

The 2012 Annual Meeting will help attendees to:


  • Appreciate recent progress in the research and treatment of progeroid syndromes.
  • Understand the variety of genetic causes and cell biological pathways that culminate in the aging process.
  • Understand the clinical application and utility of microarray, aneuploidy screening and free fetal nucleic acids in prenatal diagnosis.
  • Recognize cardinal signs and appreciate updated information regarding rare and common genetic syndromes.
  • Define value from the perspective of healthcare delivery in general and genetics in particular.
  • Understand how to apply value frameworks to genetic conditions.
  • Understand the new applications and limitations of next-generation sequencing in clinical molecular diagnostics.
  • Appreciate the basic QA/QC challenges of bringing next-generation sequencing to clinical practice.
  • Appreciate the variety of presentations of inborn errors of metabolism.
  • Understand the eye findings and clinical features present in syndromes associated with anophthalmia, microphthalmia and coloboma.
  • Identify a molecular genetic testing strategy to evaluate a child with eye anomalies.
  • Identify single nuclear genes known to affect sports performance.
  • Appreciate the mitochondrial and epigenetic determinants of muscle function.
  • Describe effective follow-up testing strategies for newborn screen results.
  • Appreciate methods to minimize the negative impact of false positive newborn screen results.
  • Recognize the phenotypic features of established and novel overgrowth syndromes.
  • Appreciate the available testing modalities specific to each overgrowth condition.
  • Appreciate how to order and interpret functional mitochondrial testing with confidence.
  • Recognize the anecdotal nature of treatment strategies for mitochondrial disorders and the need for controlled clinical trials.
  • Appreciate the similarities and differences of OMIM and GeneTests.
  • Appreciate the strengths and limitations of Browser, CaBiG and dbGAP.
  • Understand the differences between aCGH platforms and SNP array platforms.
  • Understand the guidelines for prenatal aCGH and how to interpret results of this testing.

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 clinical geneticists
  • Physicians of all specialties with an interest in genetics, genomics and 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 and genomics

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