Course Description

***** 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


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.

To access subtitles in the course, use the 'CC' button

Instructor

Founder, Precision Medicine Advisors

Jeanette McCarthy, PhD

Jeanette McCarthy is a genome scientist and leading educator in the field of precision medicine. She spent the early part of her career in industry at Millennium Pharmaceuticals before transitioning to academia. She currently holds adjunct faculty positions at Duke University and UCSF and teaches Genomic and Precision Medicine in the UC system and online.

Course curriculum

  • 1

    Pre-course survey

    • Pre-course survey: Clinical Sequencing for Rare Disease

  • 2

    Course videos

    • 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

  • 3

    Post-course survey

    • Post-course survey: Clinical Sequencing for Rare Disease

Reviews

5 star rating

Very Informative

Larry Oisher

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.

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5 star rating

Paula Rebolo Bardanca

Good introduction to the topic.

Good introduction to the topic.

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5 star rating

Wonderful course

Patty Taneja, MS, LGC

Terrific job in covering complex information in a very digestible manner.

Terrific job in covering complex information in a very digestible manner.

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5 star rating

Himanshu Mohania

5 star rating

Sandesh Singh

5 star rating

ANIMESH JHA

5 star rating

Darlene Deters

5 star rating

HebatAllah El Karadawty

5 star rating

Very good course

Umapathi I

Good in Genetic knowledge

Good in Genetic knowledge

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5 star rating

Fatima Abidi

5 star rating

Clinical sequencing for rare diseases

Sonia Margarit

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...

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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.

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5 star rating

Highly helpful

Ujjwal Kumar

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.

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5 star rating

Concise and to the point

Vanessa Gonzalez-Covarrubias

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.

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5 star rating

dhruv Bhatia

4 star rating

Shruthi S

4 star rating

Carles Gimenez

0 star rating

overview of Clinical sequencing process

Leslie Darmofal

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 presented

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