For people with a rare genetic disease, the path to a diagnosis can be a long, costly and painful journey. Often times, answers to unexplained conditions go undetected, because the underlying cause lies deep within a person’s genetic code, inaccessible to standard laboratory testing. Whole genome sequencing may unlock those answers by providing the most comprehensive examination of a person’s DNA for genetic changes that are driving disease. But to date, patients have had limited access to whole genome sequencing. The testing is offered at only select laboratories, and it is not always covered by insurance.

Eight leading health care and research organizations in the United States and Canada, including Mayo Clinic, are collaborating to make whole genome sequencing more accessible to patients in clinical care. Together they have launched the Medical Genome Initiative to expand access to patients and health care facilities.

Read the news release about the launch of the Medical Genome Initiative.

Hutton Kearney, Ph.D.

“Whole genome sequencing is the most comprehensive approach for evaluating the human genome for the cause of genetic diseases,” says Hutton Kearney, Ph.D., director of the Genomics Laboratory, Mayo Clinic Department of Laboratory Medicine and Pathology. “With whole genome sequencing, we can find more answers for more patients.”

The Medical Genome Initiative will bring together experts in DNA sequencing technology, bioinformatics and data handling, clinical interpretive approaches, health care policy and research. With an eye on establishing best practices, leaders of this initiative hope to make whole genome sequencing more affordable and efficient so more patients can have access to this high quality test.

“We will also work to define quality and performance expectations for clinical whole genome sequencing, especially as it relates to comparisons to other gold standard assays. Our efforts will inform appropriate ordering practices and help to maximize the diagnostic opportunity and clinical impact of this comprehensive testing,” says Dr. Kearney.

Founding members of the Medical Genome Initiative include Baylor Genetics; Broad Insitute of MIT and Harvard; HudsonAlpha Institute for Biotechnology; Illumina; Mayo Clinic; Rady Children’s Institute for Genomic Medicine; The Hospital for Sick Children; and Stanford Medicine.

Read about Mayo Clinic Center for Individualized Medicine’s work with rare diseases.

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Tags: #Hutton Kearney Ph.D., #rare diseases, Mayo Clinic Department of Laboratory Medicine and Pathology, Precision Medicine, Rare diseases, undiagnosed diseases, whole genome sequencing