Course : Multi-Gene Testing for Inherited Cancer Predisposition: Opportunities and Challenges

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.



Advances in sequencing technology with plummeting costs have led to a paradigm shift for inherited cancer predisposition testing, with increasing use of multi-gene panels. While panels enable simultaneous testing of multiple genes, they also may lead to testing of moderate and uncertain risk genes, identification of mutations in genes discordant with the clinical phenotype, as well as a much higher rate of variants of uncertain significance (VUS) as more genes are tested. Speakers will discuss risk assessment and management implications for many of the newer genes on these multigene panels, as well as the handling of VUS and uninformative results identified, expansion of classic clinical phenotypes, and the incorporation of tumor sequencing to identify potential germline risk and guide testing and management. Additionally, given the changes in approach to testing with the availability of next-generation sequencing technologies, the cost-effectiveness of this approach will be discussed in the context of inherited cancer risk.


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. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• 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
• Pathologists
• 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

Course Information without Educational Credit Please Click Here

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)


At the conclusion of this course, participants should be able to:

1. Describe risk assessment and management approaches based on various types of genetic test results
2. Contrast how cost effectiveness is impacted by multi-gene testing as compared to traditional testing approaches
3. Describe the potential clinical significance of tumor testing to inform potential germline risk
4. Describe the approach to management of patients with pathogenic variants in newly identified genes conferring high or moderate increased cancer risk, as well as VUS and uninformative results

Purchase without Educational Credits