***** Now available with English and Spanish subtitles *****
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
- Provide a basic and up-to-date overview of the epidemiology and characteristics of rare genetic diseases and the methods used to diagnose them
- Compare and contrast genetic testing methodologies, including a deeper dive into the methods of evaluation of whole exomes/genomes
- Discuss clinical implementation of clinical sequencing including test indications, management and care coordination
- Synthesize the value of clinical sequencing through patient stories
This course was made possible through an educational grant from Illumina, Inc.
To access subtitles in the course, use the 'CC' button
Pre-course survey: Clinical Sequencing for Rare Disease
Part 1: Introduction
Part 2: Rare Genetic Diseases - epidemiology and characteristics
Part 3: Diagnosing Rare Diseases in Children - a closer look at how sequencing is used to diagnose rare diseases
Part 4: Clinical Sequencing in Practice - clinical management, diagnostic utility, guidelines
Part 5: Clinical Case Studies
Post-course survey: Clinical Sequencing for Rare Disease
The case materials were well-structured and delivered. This type of info should be standard not only for medical and clinical staff but also for parents.
The case materials were well-structured and delivered. This type of info should be standard not only for medical and clinical staff but also for parents.Read Less
Good introduction to the topic.
Good introduction to the topic.Read Less
Terrific job in covering complex information in a very digestible manner.
Terrific job in covering complex information in a very digestible manner.Read Less
Good in Genetic knowledge
Good in Genetic knowledgeRead Less
Excellent course! I loved the way the course was given with short presentations. The sequence was logical and easy to follow. Congratulations, to all who w...Read More
Excellent course! I loved the way the course was given with short presentations. The sequence was logical and easy to follow. Congratulations, to all who were involved. I will definitely share it with my colleagues.Read Less
Superb information, user friendly, highly helpful for the person associated for genetics diseases.
Superb information, user friendly, highly helpful for the person associated for genetics diseases.Read Less
Excellent brief course. It broadens the scope on genetic sequencing for rare diseases.
Excellent brief course. It broadens the scope on genetic sequencing for rare diseases.Read Less
It was good but at time hoped more case studies would be presented
It was good but at time hoped more case studies would be presentedRead Less