Nicholas Volker was dying at the age of 4 from an unknown condition. Over 100 trips to the operating room and 400 days in the hospital, no doctors were able to pin point to the cause of his illness. As a last hope, doctors decided to sequence his whole genome. From the result, diagnosis of XIAP mutation was found and Nic was treated and cured with core blood transplant. He was the first patient to be saved by whole genome sequencing. Since then, next generation sequencing (NGS) has brought hope to many rare disease patients.

Globally, there are over 350 million rare disease patients, making it more prevalent than cancer and AIDS combined. For these patients, NGS technology brings hope for early diagnosis and treatment. 80% of rare diseases have a genetic origin, which means that genome sequencing provides much clear understanding of patient’s conditions.

Recent studies have shown that exome sequencing provides successful diagnosis in about 30% of the cases and whole genome sequencing provides diagnosis in 45% of the cases. However, most patients around the world do not have access to genetic testing. In the US, majority of insurance do not cover exome sequencing and most patients cannot afford the high cost of sequencing. The insurance coverage rate for exome sequencing is only at about 10%.

NGS technology holds much promise for rare disease patients in their journey to treatment. First, genetic testing provides a clear diagnosis and a confirmation of clinical diagnosis. For most patients, exome sequencing is the last stop in their journey to diagnosis, allowing patients to start their journey to treatment.

Another important process toward treatment is the building of patient registry for each rare disease. Once a causal variant is found, a comprehensive patient registry incorporating longitudinal health record as well as the genome data allow researchers to find suitable patients for therapeutic discovery and clinical trials. Because the patient population is small for each rare disease, having a well-developed registry allows quicker and more cost-efficient clinical trials. With increased interest in the orphan drug market in recent years, we are seeing increased numbers of orphan drug designations. Incorporation of genome data into this process will accelerate the treatment development process.

For rare disease patients, NGS technology holds the promise for diagnosis and treatment. As the price of sequencing continues to drop, we are seeing incredible amount of research being done to understand and cure rare diseases using NGS. For many rare disease patients, NGS technology is the bridge between hope and cure.

written by DH Park

DH is a co-founder of 3billion, a startup providing direct to patient rare disease screening service.
Trained as biomedical engineer, he is passionate about bringing NGS technology directly to consumers.
You can reach him at


About Macrogen
Macrogen is a leading integrated genome analysis service provider dedicated to providing the highest quality genomics services over 20 years. Macrogen provides a wide range of sequencing and bioinformatics services to academic, pharmaceutical, and clinical research communities around the world. Especially, for research sequencing, next generation sequencing (NGS) technologies have become cheaper and easier to use. With long experience and capability, Macrogen suggests total genomic solutions and leads precision medicine using NGS technologies. For more information, please visit

About 3billion
3billion is dedicated to empowering rare disease patients. 3billion provides an affordable, direct to consumer rare disease screening service. Using next generation sequencing and bioinformatics technology, their service screens for over 4,500 rare genetic conditions at once. 3billion helps rare disease patients gain more comprehensive understanding of their conditions at a genetic level. 3billion’s goal is to provide rare diagnosis patients with the hope of diagnosis and possible treatments. For more information, please visit