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Over genetic disease; more than half of those affected are young people.
These diagnostic odysseys average seven years and often include multiple inconclusive tests, surgeries, and procedures.
The iHope Program was created in organizations from around the world.
Its aim is twofold: to shorten the diagnostic odyssey; and to inspire hope by increasing access to genomics for all.
LIFE-CHANGING TREATMENT THROUGH cWGS IN PERU Eleven-year-old José was referred to the iHope Program by the Instituto Nacional de Ciencias Neurológicas in Peru due to early onset movements in his arms and legs, which caused pain and cramping, greatly limiting his ability to walk and perform daily activities.
After having received normal brain MRI and muscle biopsy results, Jose’s clinical team diagnosed him as suffering from generalized dystonia.
He was then put on a course of a central nervous system muscle relaxant called Baclofen, which unfortunately brought no relief.
Jose’s DNA sample was submitted to the Illumina Clinical Services team for clinical whole genome sequencing (cWGS), which revealed an anomaly that impacted a number of genes.
Following the return of the result, Jose was referred to a neurologist and placed on low doses of a levodopa/decarboxylase inhibitor.
In addition, his family was also counseled about the respective reproductive screening and testing options that were available.
A MESSAGE OF HOPE FOR THE RARE DISEASE COMMUNITY DURING COVID- Patients are a constant source of inspiration to fulfill our mission to unlock the power of the genome, and this sense of purpose has only increased during the pandemic.
We continue to advocate for the best clinical care for patients across the globe in these unprecedented times, actively engaging with medical organizations and governments to ensure that the rare disease community has not only hope but also a voice.
Even at times of great challenge and sadness during a global pandemic, unexpected moments of optimism still exist.
From individuals to communities, from companies to countries, people are finding ways to support one another and address the pandemic together.
We as a company have been very active: working tirelessly to develop technology that will support sequencing-based surveillance capabilities and empower public health officials as they track the disease and raise funds for rare disease organizations.
OUR STORIES OF IMPACT Patient Ambassador Program The Rare and Undiagnosed Genetic Disease (RUGD) Patient Ambassadors are a coalition of patients and family members dedicated to increasing awareness of the importance of early detection of rare disease through genetic testing.
Connecting families to a wider community of people with similar experiences helps provide support and strength during the search for a diagnosis, and can improve care and management.
By sharing personal stories about their rare disease journey, the group is able to educate and motivate an entire ecosystem of support.
Journey of Hope Journey of Hope is a short film created by not-for-profit Same but Different in collaboration with Illumina.
It offers a touching glimpse into the lives of rare disease patients and their families.
Meet children, like Iggy, who often receive a rare genomic diagnosis after many years of not knowing what was wrong, or what treatment was needed.
The film highlights the reality of the search for a diagnosis, the impact of the diagnostic moment, and how the power of genomics provides a different kind of hope for hundreds of millions of people worldwide.
IN AFRICA The Illumina Corporate Foundation provided a $for Neuropsychiatric Genetics Education in Research (GINGER).
The project’s objective is to enhance genetics research capacity in Africa using virtual classrooms and help train a new generation of genetics researchers by making the courses available online.
Demand for this competitive program is high, with places filled by research fellows from Ethiopia, Kenya, South Africa, and Uganda.
As a way of boosting global capacity for genetics research, the grant will curate virtual classroom content and enable it to be videotaped, edited, and translated into other languages.
This virtual connection will provide continuity of programming through the pandemic response and recovery.
and would mean that genomes can be interpreted in the appropriate context of global diversity.
In geographies where specialists are limited and clinical resources sparse, there is an imperative to close the genomic medicine gap, and advance to next-generation care.
In addition to our philanthropic cWGS program iHope, we offer charitable contributions to organizations that are working to accelerate access to genomics.
Researchers will collaborate with academic health centers and community hospitals in the New York City area to recruit patients and perform whole-genome and RNA sequencing on cancers and normal tissues.
This will help to identify differences between ethnicities that may account for disparities in occurrence, response to treatment, and survival for different cancer types.
The program is designed to study cancer care inequities in underserved populations, with the objective of democratizing and broadening access to the power and potential of cancer therapies.
It is estimated, however, that fewer than Africans, making it a very rich potential source of new genetic information for health and diagnostic research and development.
Illumina joined a cross-sector partnership through the Africa Centres for Disease Control and Prevention (CDC) to support the launch of the Africa Pathogen Genomics Initiative (APGI).
The initiative will expand access to NGS tools and expertise with the goal of strengthening pathogen capacity across the continent.
The focus will be to build a continent-wide disease-surveillance network to inform public health responses to COVID-addition to other epidemic threats such as AIDS, tuberculosis, malaria, cholera, and other infectious diseases.
We have committed more than $of charitable donations over the next four years, to include NGS platforms, reagents, and training support.
The initiative aims to accelerate the sustainable implementation of NGS for pathogen surveillance, and to help ensure capabilities are maintained.
or launched Illumina is committed to increasing the awareness of genomics in healthcare and the advancement of precision medicine.
Our work in education can be divided into two key areas—supporting existing healthcare professionals and inspiring the next generation of scientists, innovators, and researchers.
Education for Healthcare Professionals Illumina plays an important role in providing accurate, unbiased, and balanced information to healthcare professionals (HCPs).
Our education begins with basic genetic concepts, and encompasses specific areas of focus such as reproductive health, oncology, genetic health, and infectious disease.
With our educational activities tailored for nongenetics HCPs and patient advocates, this work also supports our efforts to reduce the non-financial barriers of access to genomics.
We provide a range of educational grants for HCPs that align with our clinical areas of focus to support accredited and nonaccredited educational activities.
NCC: Genetics Training The National Coordinating Center (NCC) for the Regional Genetics Networks is part of the American College of Medical Genetics and Genomics.
of Genomics A grant from the Illumina Corporate Foundation helped support the Genomics Essentials in Hematologic Malignancies (GENOM) project via the American Society of Hematology, the Leukemia and Lymphoma Society, and the France Foundation.
The goal is to provide clinicians with an introductory understanding of genomics, current applications, and practical strategies to apply.
Genomics startups are playing an increasingly important role internationally in the expansion of the genomic ecosystem.
for a more sustainable future Software and tools to further enable new insights Consumer-driven applications to help us better understand ourselves The dramatic innovations emerging from these startups are helping to drive down costs, and unlocking new areas of biology and market use.
Global Head, Illumina Accelerator Illumina for Startups Illumina for Startups is our way of accelerating innovation in the entrepreneurial community by partnering with leading venture capital investors and entrepreneurs to create, launch, and grow genomics startups.
Illumina Accelerator is an engine for creating companies co-located with Illumina research and development sites in the San Francisco Bay Area and Cambridge, UK.
Illumina Accelerator provides select startups with access to seed investment, business guidance, Illumina’s sequencing systems and reagent, and fully operational lab space during each six-month funding cycle.
In addition to providing the initial seed money, Illumina also provides strategic counsel to Illumina Ventures, and access to the wealth of experience and expertise of the world’s leading genomics solutions provider.
We want more communities to have greater access to genomic testing.
Illumina actively finds partners that can help us achieve this aim.
Beyond Coverage In with the Blue Cross Blue Shield Association (BCBS), a federation of the largest commercial health insurers in the US, serving more than 100 million customers.
The collaboration and subsequent publication also included the Personalized Medicine Coalition (PMC) and Concert Genetics.
In order to expand access to personalized medicine, we began mapping the national availability of DNA sequencing technologies, genetic testing and precision medicine.
GENETIC TESTING FOR BABIES “Project Baby Bear” is the nickname for the $developed to provide genetic testing for babies in intensive care.
The successful quality improvement project of rapid Whole Genome Sequencing (rWGS) in neonatal and pediatric intensive care units in the US.
As part of the pilot, Illumina teamed up with the Rady Children’s Institute for Genomic Medicine.
In a group of study reported a 43% diagnostic yield, with 31% experiencing a change in care attributed to rWGS.
The project also generated $savings, attributed to 513 fewer days in hospital and 27 fewer surgeries or invasive procedures.
The project’s final report, published in June or cWGS can provide fast, precise, and often life-changing answers to medical mysteries, producing better health outcomes while saving millions in healthcare costs.
Inconsistent coverage and reimbursement policies remain barriers to testing access, but do not entirely explain the inconsistent utilization.
Other access barriers must be addressed, such as socioeconomic factors, in addition to a lack of awareness about genomics and precision medicine in the healthcare system.
Illumina is committed to enabling broader access to genomics through innovation, philanthropy, education, community outreach, collaborations, and key partnerships.
Disease and NIPT Over the last four years, there has been a lives affected by Next-Generation Sequencing (NGS) covered by insurance.
IMPROVING ACCESS TO NON-INVASIVE PRENATAL TESTING (NIPT) across the US for Non-Invasive Prenatal Testing (NIPT), which analyzes DNA from an expectant mother’s blood to screen for chromosomal conditions in her baby.
It is the most sensitive and specific screening test for chromosomal changes, and can help prevent the need for more invasive procedures.
In August Obstetricians and Gynecologists (ACOG) recommended NIPT be made available to all pregnant women, regardless of maternal age or baseline risk.
ACOG’s endorsement helped expand insurance coverage and broaden access to NIPT.
United Healthcare, Aetna, Humana, Centene, Harvard Pilgrim, Anthem, and most Blue Cross Blue Shield plans, expanded coverage for NIPT to all pregnant women, instead of only those at risk or over the age of win for expectant parents.
14% 12% 44% 20% 51% Atlantic Information Services Directory of Health Plans for number of lives data.
In order to accelerate access to genomics, we participate in several partnerships and coalitions.
This partnership aims to make whole genome sequencing (WGS) available to members for faster diagnoses of genetic diseases in children.
Next-Generation Sequencing (NGS) has revolutionized the diagnosis and treatment of acute myeloid leukemia (AML) through more accurate testing, classification, and the ability to take advantage of precision medicine.
Our work with ICAL is bringing this cutting-edge technology to Latin America.
DNA Data Storage Alliance Illumina partnered with Microsoft, Western Digital, and Twist Bioscience Data Storage, to establish standards for this new field.
The Melbourne Genomics Hub By combining Illumina’s industry expertise with the University of Melbourne’s research and student body (with support from the Victorian Government in Australia), this partnership aims to improve public health outcomes.
The Shanghai Public Health Clinical Center (SPHCC)-Illumina Microorganism Sequencing Research and Application Demonstration Center The center accelerates pathogenic microorganism research and clinical testing.
Illumina provides technical support and training, and facilitates academic exchanges.
As the largest US cWGS partnership, patients can integrate genomics into their medical care by having their genomes sequenced using Illumina technology.
The coalition advocates for broad US coverage of CGP for patients living with advanced cancer.
full-length moviesinto a DNA molecule and packed to the size of a grain of salt.
In this section: 29 Focus on Community: Overview 30 Giving Back Is in Our DNA 31 Corporate Citizenship in Action: Illumina Cares 32 Employees Making a Difference 34 Empowering Our Communities During the Pandemic 35 Educating Future Generations By sharing our time, talent, and technology, we aim to inspire, support, and...
A: When the impact of the global pandemic started to unfold, we were able to leverage our CSR framework and respond in a comprehensive way.
It was key to apply our risk-based approach to protecting employees, ensuring business continuity for our supply chain and maintaining our culture of giving for disaster response and employee engagement.
A: Embedding diversity, inclusion, and fairness in everything we do has always been a foundational priority.
In inequities and systemic racism were brought to the forefront of the global conversation and demonstrated a need for more urgent and broader action.
We re-examined our programs to identify additional ways to lift community partners and bring our employees into the conversation.
Their mission of creating a more just and equitable society resonated with our employees, leading to an unprecedented level of engagement in record time.
We also championed a new nonprofit called SDwhich aims to support diversity in science, technology, engineering, and mathematics (STEM) education.
Q: In response to COVID-workforce shifted to a remote setting.
A: While remote working created challenges for in-person volunteering, it also unlocked a tremendous opportunity to engage virtually, regardless of location.
Previously, a sitebased activity would only reach the local workforce, whereas in back campaigns were able to touch every region.
We completed a virtual Walk the World for Rare Disease charity fitness challenge with more participation than any previous fitness campaign.
We are also deeply committed to creating equitable access to STEM education for all students and we felt it was imperative to continue this during the pandemic.
We strongly believe that igniting interest in genomics can empower students to see themselves as future scientists and innovators.

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