Course : ACMG Genomics Case Conference October 2015
Rapid Genome Sequencing (STATseq) of CMH5033, a 3-week-old Male with Isolated, Symptomatic Atrial Flutter, and his Parents
Hosted by Rady Pediatric Genomics and Systems Medicine Institute
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During this ACMG Genomics Case Conferences, a Stephen F. Kingsmore MB ChB BAO DSc FRCPath from Rady Pediatric Genomics and System Medicines Institute will present and lead a discussion on an intriguing, complex patient case in the area of genomics. The case is "Rapid genome sequencing (STATseq) of CMH5033, a 3-week-old male with isolated, symptomatic atrial flutter, and his parents".
The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care. There are four overall learning objectives that will be covered in each session. As well there are specific learning objectives pertinent to the cases presented. At the conclusion of the session the learners will rate the session and whether each learning objective has been met.
- Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
- Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.
This activity is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.
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Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members with educational credits ($55)
At the conclusion of the series, participants should be able to:
1. Describe the clinical utility of whole exome/whole genome sequencing tests
2. Identify clinical indications for whole exome/whole genome sequencing
3. List determinants used to assess the probability of a variant’s pathogenicity
4. Elaborate on the importance of pre-test counseling and consent
Session learning objectives
At the conclusion of the session, participants should be able to:
1. Describe methods and analytic metrics of rapid whole genome sequencing for diagnosis of genetic diseases
2. Explain the emerging picture of the clinical utility of rapid whole genome sequencing in the NICU
3. Identify emerging picture of clinical indications for rapid whole genome sequencing in the NICU
4. Discuss practical difficulties in assessing the probability of a variant’s causality in a NICU setting