Advances in the Diagnosis and Management of Rare Disorders - Episode 1
The HCPLive Peer Exchange “Advances in the Diagnosis and Management of Rare Disorders” is a video editorial series featuring a panel of experts discussing issues that are common to the diagnosis and treatment of rare medical disorders, which are defined as diseases and conditions that affect fewer than 200,000 people.
The program is moderated by Abhimanyu Garg, MD, Professor of Internal Medicine and Chief of Nutrition and Metabolic Diseases at UT Southwestern Medical Center.
The expert panel consists of:
There are approximately 6,800 distinct, known rare diseases. They are mostly genetic in origin and affect close to 30 million individuals, which means that nearly 1 in 10 Americans is affected by a rare disorder.
In this introductory segment, the panelists discuss the fact that it often takes several years for patients with a rare disease to receive an accurate diagnosis, underscoring the need for improved public and professional awareness of these conditions, timely diagnosis, coordination between primary care practitioners and specialist centers, more rapid and efficient transfer and accumulation of clinical data.
The panel also discusses the need for better coordination between various national and international entities, including national heath ministries, regulators, research institutes, medical professional societies, third-party payers, database managers and registries, charitable organizations, and patient advocacy groups.
This introductory segment also includes discussion of advances in genomics and new technologies such as whole exome sequencing that enable researchers to identify and study genetic mutations, allowing earlier detection of rare disorders. As one panelist notes, earlier diagnosis means earlier intervention, which leads to improved outcomes.