The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease is a multidisciplinary collaboration of experts from around the world co-chaired by Takeda, Microsoft and EURORDIS-Rare Diseases Europe, who have brought together their creativity, technological expertise and commitment to accelerate the time to diagnosis for children with a rare disease.

The average length of time from symptom onset to an accurate diagnosis of a rare disease is about 5 years. Rare diseases often go undiagnosed because patients, families and physicians have limited awareness of the disease, and rare disease symptoms may not always be evident to healthcare providers who have never encountered the disease. Delays in diagnosis can lead to inappropriate disease management as well as disease progression. With 70 percent of rare diseases beginning in childhood, an accurate and timely diagnosis can play a role to a longer, healthier life for a child living with one of these conditions.

The Global Commission gathered input from patients, families and other expert advisors to gain key insights and guide solutions for shortening the rare disease timeline. These findings informed the actionable recommendations and three technology pilot programs in the organization’s Year One Report that addresses the distinct barriers to rare disease diagnosis.

 Dr. Gareth Baynam, Chair of the Diagnostics Scientific Committee of the International Rare Diseases Research Consortium (IRDiRC) and Adjunct Policy Advisor on Clinical Genomics at the Western Australian Department of Health, has recently joined the Global Commission. We spoke with Dr. Baynam on why he joined the Global Commission and how his expertise as a clinical geneticist, genomic policy advisor and patient advocate could contribute to the mission and goal of ending the diagnostic odyssey that millions of children with a rare disease and their families face. 

How will your background as a clinical geneticist and experience with digital healthcare platforms be beneficial to helping the Global Commission achieve its goals of shortening the time to diagnosis for rare disease patients?

Dr. Gareth Baynam: Most rare diseases are genetic, and in many ways a clinical geneticist’s job is about serving the unmet needs of patients living with a rare disease and their families. By virtue of their jobs, clinical geneticists and genetic counselors focus on people, families, communities and culturally appropriate care; all factors that are required to end the diagnostic odyssey in the most humane and equitable way. Clinical geneticists work in a field that marries clinical care, innovation, and the early implementation of cutting-edge science, especially the latest in genetic and genomic diagnostics. This industry is also characterized by developing means to increase diagnostic certainty for those in whom a molecular diagnosis cannot yet be obtained or that are environmental, such as through diagnostic criteria for various syndromes and by application of other omics and diagnostic technologies including facial analysis, text mining and other artificial intelligence approaches.

Digital health is revolutionizing medical care, and rare and undiagnosed diseases are the exemplar domain for its application. Ultimately, digital health care can unite the voices of patients, families and communities, medical staff and scientists, using the data to transform rare disease diagnosis and care. This will involve fusing multiple technologies together with a line of sight to unmet need. It will also be at its best when it combines ancient, old and new technologies and knowledge, and when it is fit for purpose across different geographic and variably resourced areas. That is, it must be able to accommodate remote geographies and areas in which internet connectivity is unreliable.

One of the major recommendations of the Global Commission Year One Report was to focus on ensuring medical geneticists see patients more quickly by standardizing reporting methods and using telemedicine. As a clinical geneticist, can you comment specifically on the benefit of this recommendation in achieving the goal of the Global Commission, and talk about how it can be best implemented?

Dr. Gareth Baynam: Scaling in both volume and reach while also enhancing culturally appropriate care for all is the great challenge. Fortunately, many clinical genetics units embrace change and often already serve the remote and regional patients and families by physical or virtual (telemedicine) approaches. A challenge is finding the balance that is the most efficient, equitable and culturally safe. Telemedicine can be a wonderful tool, but it can also be challenging if the infrastructure to deliver it, in terms of software, hardware and internet access are unreliable or inefficient. There is an opportunity cost with every action; a poor or failed telemedicine appointment equates to a loss of a physical appointment for another patient.  Improvements to telemedicine have the potential to be fantastic for more sustainable health care and will work best when it is part of an integrated digital health solution, and not just another standalone system.

Standardization is another way to support scale, and there are multiple points in the care delivery loop that can be standardized. Examples include how patients and families provide data, the use of standardized languages (e.g., the human phenotype ontology), omic data analytics and test reports, and written communication to patients and other medical specialists along the diagnostic odyssey, as well as after diagnosis.

What are the next steps of the Global Commission and what role will you play in these endeavors?

 Dr. Gareth Baynam: In short, equity and Next Steps.

Equity. The Global Commission by its very nature is about serving the inequities faced by undiagnosed and rare disease patients and families. A challenge is that many of these undiagnosed and rare disease patients and families reside in a remote area and are part of an underrepresented and/or Indigenous population. The Global Commission is already tackling this challenge. Globally, there are a similar number of patients living with rare diseases as there are that speak an Indigenous language: more than 300 million people.

Until we better serve underrepresented and Indigenous populations, the Global Commission cannot obtain its goal of ending the diagnostic odyssey. My role is to continue to advocate for and support methods to improve diagnosis for underrepresented and Indigenous populations, both in the generation and health systems implementation of (gen)omic and phenotypic (e.g., facial, such as Pilbara Faces; and other biometric) reference data, and in more culturally appropriate care through better use of language (e.g.,via Lyfe Languages which is translating the human phenotype ontology and other medical terminology into Indigenous languages). Focusing on these elements will also bring even greater harmonization with the International Rare Diseases Research Consortium, where we share the goal of ending the diagnostic odyssey. I also hope that living in Western Australia and therefore residing in the world’s most populous time zone that includes China, Indonesia and other nations, that I may in some small way be part of the bridge to the Asia-Pacific region.

Next Steps. My team has been working with genetic counselors to lay the foundation for a resource called Next Steps. That is, determining the Next Steps in a patient’s journey, whether a patient is undiagnosed or recently diagnosed, and how to improve their journey in a personalized, scalable, accessible and digital way. How do we connect children and families to the correct resources for diagnosis, support and advocacy, education, the disability sector, or research and clinical trials? The Next Steps resource has been designed through expert and community consultation, and we hope to partner with resources like the Global Commission to support acceleration and implementation.

 

Resources

Rare Disease Organizations

Rare Diseases Clinical Research Network
An initiative of the Office of Rare Diseases Research (ORDR) and National Center for Advancing Translational Sciences (NCATS). The goal is to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing.

EURORDIS
A non-governmental patient-driven alliance of patient organizations representing 724 rare disease patient organizations in 64 countries.

National Organization for Rare Disorders
Provides a unified voice for the 30 million people who wake up every day to fight the battle with a rare disease, including parents and caregivers.

Rare Disease Legislative Advocates
A program of the EveryLife Foundation for Rare Diseases designed to support the advocacy of all rare disease patients and organizations.

Genetic Alliance
A nonprofit health advocacy organization that engages individuals, families, and communities to transform health. They create ways to make it easier to find or build solutions in health services and research.

Global Genes
A rare disease patient advocacy organization that aims to build awareness, educate the global community and provide critical connections and resources that equip advocates to become activists for their disease.

Clinical Trials

ClinicalTrials.gov
An online database of publicly and privately supported clinical studies conducted around the world. ClinicalTrials.gov currently lists thousands of studies with locations in all 50 states and in 191 countries.

Takeda Clinical Trials FAQ
Some common questions about clinical trials.

FDA: What Patients Need to Know About Clinical Trials
The US Food and Drug Administration (FDA) provides this site for patients wanting to learn more about clinical trials. Clinical trials are voluntary research studies conducted in people and designed to answer specific questions about the safety or effectiveness of drugs, vaccines, other therapies, or new ways of using existing treatments.

Genetic Testing

Genetics Home Reference
An online resource from the National Institutes of Health. The website provides easy-to-understand information about genetic conditions and a range of topics. You’ll find basic explanations of how genes work and how mutations cause disorders. It also includes current information about genetic testing, gene therapy, and the Human Genome Project.

National Society of Genetic Counselors
Provides a helpful, easy-to-use online directory to help connect physicians, patients, and other genetic counselors. Search by state, city, counselor’s name, institution, work setting, type of specialty, or zip code.

Resources for Families and Caregivers

Rare Share
A unique social hub building communities for patients, families, and healthcare professionals affected by rare disorders.

Caregiver Action Network (CAN)
The nation’s leading family caregiver organization working to improve the quality of life for the more than 90 million Americans who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. CAN (formerly the National Family Caregivers Association) is a nonprofit organization providing education, peer support, and resources to family caregivers across the United States free of charge.

Center for Parent Information & Resources
A central resource of information and products to the community of Parent Training Information Centers and the Community Parent Resource Centers so they can focus their efforts on serving families of children with disabilities.

Family Caregiver Alliance (FCA)
A community-based nonprofit organization that that aims to illuminate the caregivers’ daily challenges to better the lives of caregivers nationally, provide them the assistance they need, and champion their cause through education, services, research and advocacy. FCA offers programs at national, state, and local levels to support and sustain caregivers.

Family Voices
Family Voices aims to achieve family-centered care for all children and youth with special health care needs and/or disabilities. Throughout their national grassroots network, they provide families resources and support to make informed decisions, advocate for improved public and private policies, build partnerships among families and professionals, and serve as a trusted resource on health care.

OurKids
An email list of family of parents, caregivers and others who are working with children with physical and/or mental disabilities and delays.

Parent to Parent USA
Programs offering parent-to-parent support as a core resource for families with children who have a special health care need, disability, or mental health issue. Through a one-to-one “match,” experienced support parents provide emotional support to families and assist them in finding information and resources.

Sibling Support Project
A national program dedicated to the lifelong and ever-changing concerns of the millions of brothers and sisters of people with special health, developmental and mental health concerns.

General Health Resources

Center on Technology & Disability
Designed to increase the capacity of families and providers to advocate for, acquire, and implement effective assistive and instructional technology practices, devices, and services for those who suffer from disabilities.

National Library of Medicine
Provides guidance on how to find reliable information online regarding human genetics.

Patient Advocate Foundation
Provides professional case management services to individuals facing barriers to healthcare access for chronic and disabling disease, medical debt crisis, and employment-related issues at no cost.

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