Precision Medicine Academy

Clinical Sequencing for Rare Disease is an online short course (~1 hour) developed to give healthcare providers a succinct overview of pediatric rare disease and how genome sequencing can be used in the diagnosis and management of these patients.

Although individual genetic conditions are rare, in aggregate they are quite common. There are over 7,000 rare diseases affecting approximately 6% of the global population. Many children with a rare disease end up in a diagnostic odyssey lasting an average of 5-7 years and involving several primary and specialist care providers. Genetic testing is commonly performed to obtain a diagnosis; however, standard testing practices are limited. Whole exome/genome sequencing is increasingly being used to help patients with rare diseases end their diagnostic odysseys.

Who is this course for?

This course may have broad appeal to the following professionals:

• Healthcare providers considering offering exome or genome sequencing to their patients
• Healthcare organizations considering investing in wide-scale implementation of genetic testing
• Laboratory providers interested in implementing exome or genome sequencing into their lab
• Relevant stakeholders interested in a review of genomics in the rare disease population

Course objectives:

1. Provide a basic and up-to-date overview of the epidemiology and characteristics of rare genetic diseases and the methods used to diagnose them
2. Compare and contrast genetic testing methodologies, including a deeper dive into the methods of evaluation of whole exomes/genomes
3. Discuss clinical implementation of clinical sequencing including test indications, management and care coordination
4. Synthesize the value of clinical sequencing through patient stories

This course was made possible through an educational grant from Illumina, Inc.

This course is available with Spanish subtitles!