ACMG Secondary Findings Cardiology: Getting to the Heart of the Matter with Kelly Radtke, PhD

• ACMG published a policy statement in 2013 advising clinical laboratories to report findings in a minimum gene list to as an option for all individuals undergoing exome or genome sequencing. The current version of this minimum gene list contains 81 genes and many of the genes contained contribute to cardiovascular disease in patients. These genes contribute to multiple different cardiovascular diseases including cardiomyopathies, arrhythmias, aortic aneurysm, hypercholesterolemia, and syndromic conditions including Loeys-Dietz syndrome and Marfan syndrome. The penetrance for many of these conditions is still being investigated. Studies have surveyed individuals who received positive cardiovascular genetic findings through secondary findings and found a range of reactions to result disclosure. The majority of these patients were asymptomatic for the identified genetic condition following clinical testing. The American Heart Association has published a scientific statement for the testing and treatment of individuals with genetic diagnosis of cardiovascular disease following secondary findings or incidental result disclosure.

  Level of Instruction: Basic

  

  Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

  

  Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

Kelly Radtke, PhD | Presenter

Senior Manager at Ambry Genetics

Dr. Kelly Radtke has over 15 years of experience in biology research, including skills in diagnostic genetics, biochemistry, molecular biology, developmental biology, and pharmaceutical testing. At Ambry Genetics, Dr. Radtke Manages a team of PhD scientists and M.S. genetic counselors in clinical reporting of diagnostic exome sequencing, NGS panel testing, and fragile X testing. Dr. Radtke has experience developing criteria for gene disease validity, novel gene reporting in diagnostic exome sequencing, and determination of mechanism of disease. She is a member of the GenCC steering committee, which is committed to publicly sharing clinical validity assertations of gene-disease relationships.

Melissa Holman, MS, CGC | Moderator

Genomic Science Liaison

Melissa Holman is a certified genetic counselor and Genomic Science Liaison at Ambry Genetics. She completed her BS in Genetics with a minor in Psychology at Clemson University and received her MS in Genetic Counseling from Virginia Commonwealth University. After graduate school, Melissa worked for several years as a genetic counselor in South Bend, Indiana. In 2019 she moved to Winston Salem, NC and transitioned to her current role at Ambry Genetics. As a Genomic Science Liaison for the Southeastern United States, she serves as a clinical liaison for the field team to educate health care providers and other key opinion leaders on genetic testing and genomic medicine.