Clinical Sequencing for Rare Disease

taught by Jeanette McCarthy, PhD

Course description

***** Now available with English 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

Jeanette McCarthy, PhD
Jeanette McCarthy, PhD
Founder, Precision Medicine Advisors and Adjunct Associate Professor, Duke University

Jeanette McCarthy has been a leading educator in the field of precision medicine for over a decade. She’s designed and delivered dozens of online courses and in-person workshops to healthcare providers, consumers, diagnostic companies, health IT companies, investors and others worldwide.

Dr. McCarthy spent the early part of her career as a molecular epidemiologist at Millennium Pharmaceuticals and in academia, and currently holds adjunct faculty positions at Duke University and the University of California - San Francisco (UCSF). She is the co-author of Precision Medicine: A Guide to Genomics in Clinical Practice, and served as editor-in-chief of Genome, the first magazine dedicated to educating consumers about the promise and challenges of genomic medicine.

Dr. McCarthy is the founder of Precision Medicine Advisors, which brings healthcare organizations, health care providers, diagnostic test developers, health IT companies, investors and others up to speed on the availability, value and limitations of genetic tests on the market and in development.

Reviews (17)

by HebatAllah El Karadawty

by Fatima Abidi

by Shruthi S
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by HebatAllah El Karadawty

by Fatima Abidi

by Shruthi S

by Paula Rebolo Bardanca
Good introduction to the topic.

Highly helpful

by Ujjwal Kumar
Superb information, user friendly, highly helpful for the person associated for genetics diseases.

Concise and to the point

by Vanessa Gonzalez-Covarrubias
Excellent brief course. It broadens the scope on genetic sequencing for rare diseases.

Very good course

by Umapathi I
Good in Genetic knowledge


by Sandesh Singh

by Himanshu Mohania

by dhruv Bhatia

Clinical sequencing for rare diseases

by 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 were involved. I will definitely share it with my colleagues.

by Darlene Deters

overview of Clinical sequencing process

by Leslie Darmofal
It was good but at time hoped more case studies would be presented

Very Informative

by 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.

by Carles Gimenez

Wonderful course

by Patty Taneja, MS, LGC
Terrific job in covering complex information in a very digestible manner.