But wait, there’s more: Autosomal dominant genes that also have autosomal recessive phenotypes with Kelly Radtke, PhD

• As genetic testing becomes more common for the diagnosis and specialized treatment of adult-onset disorders, we are forced to confront the complexity that underlies many of the genes associated with these disorders. In this talk we will review examples of genes that cause adult-onset disorders when a mutation is monoallelic, but cause a different disorder, typically early-onset and multi-systemic, when mutations are biallelic. These examples will allow us to gain understanding that a positive genetic finding may also identify the individual as a carrier for a different genetic disorder. Examples from cancer predisposition, familial hypercholesterolemia, and peripheral neuropathy will be discussed. Ultimately, this knowledge will be applied to information available in public variant databases and variant summaries typically provided on clinical reports.

  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, Reporting, 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.

Rachel Bluebond, MS, CGC | Moderator

Genomic Science Liaison II, Ambry Genetics

Rachel Bluebond joined Ambry in 2020 as the Oncology Genomic Science Liaison for the South Central Region. In her current role she serves as a clinical liaison for the field team to educate health care providers and key opinion leaders on genetic testing and genomic medicine. Rachel previously worked as a clinical oncology genetic counselor at the University of Texas MD Anderson Cancer Center in Houston, Texas for 7 years and has worked with PWNHealth providing telehealth genetic counseling for 4 years. Rachel has been involved in graduate education at the UT MD Anderson UT Houston School of Biomedical Sciences. She is a member of the National Society of Genetic Counselors and the chair of the Billing Workgroup of the Access and Service Delivery Committee. Rachel received her Master of Medical Science degree in Human Genetics and Genetic Counseling from Emory University, and is certified by the American Board of Genetic Counseling.