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Illumina Launches iHope Program to Identify Causes of Undiagnosed Genetic Diseases in Children

Illumina, Inc. (NASDAQ: ILMN) today announced the iHope program, a philanthropic initiative aimed at identifying the genetic causes of undiagnosed rare diseases in children. With initial program partners Foundation for the Children of the Californias, Rare Genomics Institute, and UCSF Benioff Children’s Hospital San Francisco, selected patients in financial need will receive clinical whole-genome sequencing performed by the Illumina Clinical Services Laboratory. Through whole-genome sequencing – the process of determining the order of all the DNA in a person’s body – Illumina and the iHope program partners strive to end years-long diagnostic odysseys of unnecessary and inconclusive testing for these children and their families.

Under US law, a disease is considered rare if it has a prevalence of fewer than 200,000 affected individuals in the United States. Global Genes estimates that there are as many 30 million individuals in the US with a rare disease, 80 percent of which is genetic in origin. The iHope program was created out of an awareness of the challenges facing patients with rare and undiagnosed genetic diseases and their families – many of whom face financial hardship and are not otherwise able to access next-generation sequencing-based testing. Approximately 50 percent of those affected by rare diseases are children and 30 percent do not live to be five years old.1

“Understanding the scope and size of the population affected by rare diseases, we have a moral imperative to increase the visibility of this global health problem and help find solutions for the children and families who are suffering,” said Illumina President and CEO Francis deSouza. “With precision medicine and large-scale genomic initiatives being launched all over the world, we believe that genomics is reaching an inflection point in the public consciousness. The iHope program aims to build on that public awareness by focusing on the needs of those with rare, undiagnosed genetic diseases and showing how next-generation sequencing can benefit this population.”

“We know that rare diseases can affect any family at any time. Being a part of iHope gives me confidence that together we can make a difference for patients with these conditions,” said Jimmy Lin, MD, PhD, Founder and President, Rare Genomics Institute. “Whole-genome sequencing has already shown its value in identifying rare and undiagnosed diseases and, as we learn more, I believe that the process will become a routine part of medical practice. Children will no longer have to suffer through a crusade of testing.”

Clinical experts affiliated with iHope partner institutions will make referrals to the Illumina Clinical Services Laboratory, which is certified under the Clinical Laboratories Improvements Amendments (CLIA) and accredited by the College of American Pathologists (CAP). These experts – including pediatric intensivists, medical geneticists, genetic counselors, and others – will refer children who have financial need and undiagnosed conditions suspected to be of genetic origin.

Eligible program participants selected by the iHope program partners will receive whole-genome sequencing at no cost. Clinical whole-genome sequencing is intended to provide information to physicians to aid in the diagnosis of inherited diseases, and to try to identify the underlying cause of a genetic condition. This test is most appropriate for situations where the evaluation of multiple genes may clarify or refine the diagnosis, a situation that can occur when the presenting set of symptoms and tests are inconclusive, there are many candidate genes to evaluate, or physicians believe that the patient may have multiple genetic conditions.

About Illumina, Inc.

Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit www.illumina.com and follow @illumina.

About Foundation for the Children of the Californias

The Foundation for the Children of the Californias is a trinational collaboration with Canada, the United States and Mexico, endeavoring to improve the health and nutrition for the children of the mega-region of San Diego and Baja California through the operation of Hospital Infantil de las Californias.

Hospital Infantil de las Californias is a model pediatric specialty medical and education complex, located one half mile into Baja California, Mexico. Hospital Infantil offers outpatient services in 25 specialties and services and sees over 3,500 children from both sides of the border each month.

No child at Hospital Infantil is turned away due to inability to pay.

About Rare Genomics Institute

Rare Genomics Institute (RG) is a 501(c)(3) non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, RG helps custom design personalized research projects for diseases so rare that no organization exists to help. By providing an expert network and an online crowdfunding mechanism, RG helps families source, design, and fund personalized research projects in diseases not otherwise studied. Ultimately, RG aims to expand on its current genome sequencing-focused approach to enable support for whatever type of research is necessary to get closer to rare disease therapeutics.

For more information about Rare Genomics Institute, visit http://www.raregenomics.org.
The eBook is available immediately at no cost at http://www.raregenomics.org/eBooks.
Stories and professional photos are available for press at http://raregenomics.org/media-kit/.

About UC San Francisco

UC San Francisco (UCSF) is a leading university dedicated to promoting health worldwide through advanced biomedical research, graduate-level education in the life sciences and health professions, and excellence in patient care. It includes top-ranked graduate schools of dentistry, medicine, nursing and pharmacy; a graduate division with nationally renowned programs in basic, biomedical, translational and population sciences; and a preeminent biomedical research enterprise. It also includes UCSF Health, which comprises top-ranked hospitals, UCSF Medical Center and UCSF Benioff Children’s Hospitals in San Francisco and Oakland – and other partner and affiliated hospitals and healthcare providers throughout the Bay Area.

Forward-Looking Statements

This release contains forward-looking statements that involve risks and uncertainties. Examples of forward-looking statements include, but are not limited to, statements we make regarding the expected availability dates for new products and services and FDA submission dates and intentions for certain products and services. Important factors that could cause actual results to differ materially from those in any forward-looking statements include challenges inherent in developing, manufacturing, and launching new products and services, and the other factors that are detailed in our filings with the Securities and Exchange Commission, including our most recent filings on Forms 10-K and 10-Q, or in information disclosed in public conference calls, the date and time of which are released beforehand. We do not intend to update any forward-looking statements after the date of this release.

1 Global Genes®, RARE Diseases: Facts and Statistics

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