The Global Commission aims to inspire concerted action and mobilize stakeholders to work collaboratively toward a shared ambition of accelerating the time it takes to diagnose a rare disease.

Diagnostic Case Study Compendium

Framework to Guide Action in Accelerating Diagnosis

In May 2024 the Global Commission announced the first iteration of a framework to support global, regional, and national efforts to end the diagnostic odyssey. 

To bring the framework to life, the Global Commission is assembling a compendium of case studies with the intent to showcase innovative efforts to accelerate diagnosis.

We aim to continue to add to this resource compendium over time. Please check back regularly for new updates or submit a case study for consideration at any time.

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Case Study: UTOPIA (Unlocking Treatment Options Personalized In-Time Access)

Pillar(s): Equipping Providers

Country(ies): Australia and Singapore

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Program Overview

In 2022, The Rare Care Centre at Perth Children’s Hospital in Western Australia and KK Hospital in Singapore co-designed a digital platform to generate a semi-automated summary of a patient’s condition called UTOPIA (Unlocking Treatment Options Personalized In-Time Access). UTOPIA’s power is the ability to help determine the care a child needs even if a diagnosis has not been confirmed – streamlining the care pathway during the lengthy diagnostic journey. UTOPIA also advances equity by enabling children without access to more advanced diagnostics to begin receiving the care they need. Based on an individual’s clinical features (phenotype), the platform deploys a wide range of artificial intelligence approaches for analysis, including large language models and new concept recognition, which is more accurate, faster, and less costly than other AI approaches. The information generated is then filtered against large data sets of diseases. Medical experts review the output and produce a patient profile, including the likely trajectory of the disease’s evolution and how it may affect the child physically and behaviorally.
Photo credit to Perth Children's Hospital Foundation and Kylie Plunkett Photography
  • Halved the time to develop personalized care plans.
  • Implemented in Australia and Singapore, guiding care for approximately 180 patients.
  • Families report UTOPIA-generated reports as the first tailored plans connecting them to care across multiple systems.
  • Formal evaluation of UTOPIA’s value is in progress.
  • Capacity to integrate digital tools into clinical workflow.
  • Partnerships across institutions for agility.
  • Collaboration with patients, families, and health providers.
  • Inclusion of underrepresented groups in datasets.
  • Understanding of regional health systems.
  • Crowdsourcing and partnering with experts to optimize AI for healthcare transformation.
  • Understand the healthcare system before introducing new tools.
  • Regional partnerships encourage efficient implementation.
  • Tools for physicians should also benefit patients and families.
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Case Study: The Global Nursing Network for Rare Diseases

Pillar(s): Equipping Providers

Country(ies): Global

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Program Overview

The Global Nursing Network for Rare Diseases (GNNRD), established in 2023, aims to consolidate resources on rare diseases and tailor them for nurses to better equip them in diagnosing and caring for people with rare diseases. The initiative, led by the Clinical Centre of Expertise for Rare and Undiagnosed Diseases at Perth Children’s Hospital in Australia, seeks to create a global community for cross-learning and education on rare disease symptomology. GNNRD focuses on shortening diagnosis times and providing better care throughout the patient journey by exploring models of care and benchmarking essential elements such as screening, care coordination, psychosocial support, ongoing management, and access to clinical trials and treatment. The framework for GNNRD was introduced at the “Nursing Roundtable” in Singapore in March 2023, which included input from people living with rare diseases, their families, and nurses from 25 countries.
  • GNNRD now includes 280 nurses from almost 40 countries, with more than half from low or middle-income countries.
  • The Dean of the Faculty of Nursing at the University of Colombo, Sri Lanka, included a genetics module in the Nursing Bachelor of Science program.
  • GNNRD connected the Universitas Gadjah Mada Academic Hospital in Indonesia with the National Taiwan University Hospital for a benchmarking exercise.
  • GNNRD has been included in the refreshed Wales Rare Disease Action Plan (2022-2026) to develop education and training for nurses.
  • Clearly identified need, ideally as part of a rare disease needs assessment.
  • Respected organization willing to invest time and resources to meet the need.
  • Existing resources that can be leveraged to avoid reinventing the wheel.
  • Partnerships already in place to provide expertise and credibility.
  • Mechanisms in place for involving beneficiaries in co-creating the solution.
  • Partnerships are critical to establishing credibility.
  • Co-design with the target audience.
  • Creative formats of engagement are key to sustaining momentum.
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Case Study: Casa Dos Raros

Pillar(s): Patient & Family Empowerment

Country(ies): Brazil

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Program Overview

Casa dos Raros, also known as the Center for Comprehensive Care and Training in Rare Diseases, is a collaborative initiative between Casa Hunter and the Genetics for All Institute. The center provides a multidisciplinary approach to care, integrating diagnostic testing, clinical expertise, innovative treatment methods, research, education, training, and patient and family support. Opened in February 2023, Casa dos Raros has established agreements with government health services, private insurance companies, private companies, and donors to finance its operations. The center prioritizes historically medically underserved populations and offers services at no cost to patients, thanks to partnerships with organizations like Dasa Genomics. Casa dos Raros also trains local healthcare teams to ensure appropriate care for patients transferred to centers closer to their homes.
  • Significantly reduced the time to diagnose a patient with a rare disease to an average of 58 days from first contact.
  • Over 2,500 people have contacted Casa dos Raros, and the Center has evaluated more than 250 patients.
  • From a cost standpoint, the Casa dos Raros model has proven to be the same or likely less expensive compared to the costs accrued during the 5+ year diagnostic odyssey.
  • Credible health institute that is equipped with the expertise and resources to meet a significant need and assume a leadership role.
  • Partnerships with well-connected groups and medical institutions to provide multi-disciplinary expertise and cross-promotion.
  • Diverse and multiple funding streams secured from the outset.
  • Strong and sustained social media presence to attract patients.
  • Virtual tools to enable coordination and decision-making.
  • Metrics to demonstrate impact and provide rationale for scaling to new settings.
  • Partnerships provided state-of-the-art diagnostic capabilities and access to advanced treatments at no cost to the patient.
  • A multidisciplinary model ensures comprehensive care, providing medical, psychological, and logistical support throughout the diagnosis process and beyond.
  • The success of Casa dos Raros is attributed to its dedicated and specialized staff, who are passionate about their work and provide expert, compassionate care.
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Case Study: DxGPT

Pillar(s): Patient & Family Empowerment and Equipping Providers

Country(ies): Global

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Program Overview

DxGPT is a free AI tool initially designed in 2019 for patients, caregivers, and providers who suspect a rare disease. The tool supports them in reporting and analyzing symptoms and creating and sharing medical histories to help reach a diagnosis faster. DxGPT is the brainchild of Julian Isla, a computer engineer, the father of a child with Dravet Syndrome, and the founder of Foundation 29 – a Spanish non-profit led by activists, scientists, patient advocates, technologists and health care system changemakers devoted to empower patients to harness the value of their health data to accelerate rare disease diagnosis. The open language learning model picks up on key phrases and proposes a more targeted list of differential diagnoses, improving its overall accuracy and providing a more accessible tool.
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  • As of September 2024, DxGPT has gained 62,000 new users in the past year, with 450 daily users globally.
  • The tool’s first diagnosis suggestion matches the actual diagnosis 60% of the time, and 65% of the time the correct diagnosis is in the top 5 suggestions.
  • In Spain, a branded version of DxGPT (SermasGPT) has been integrated into Madrid’s public healthcare system, with 30 physicians using it daily and 20 confirmed diagnoses.
  • Sponsorships make DxGPT free for all users, and it’s open-source coding allows for third party use, leading to leaps in organic growth.
  • Empowers patients and caregivers to engage in informed discussions.
  • On-going feedback loop drives improvements and user satisfaction.
  • Collaborations with Microsoft, Sanofi, Takeda and patient associations enhanced development.
  • Integration of cutting-edge AI (GPT-40) for faster and more accurate diagnoses.
  • Accessibility for health systems and third parties to customize and expand usage.
  • Ensured tool’s relevance and usability for healthcare professionals.
  • Innovation can empower patients.
  • Integrating feedback leads to a better user experience.
  • The right partners and expertise are necessary to achieve goals.
  • Patient and provider networks contribute to DxGPT’s organic growth among users.
  • Data privacy and protection are essential to attract users.

Case Study: Rare Disease Ghana Initiative 

Pillar(s): Patient & Family Empowerment

Country(ies): Ghana

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Program Overview

Started by the Rare Disease Ghana Initiative (RDGI) in 2019, the Diagnostic Access Program helps individuals and families get diagnosis and receive genetic testing and medical care needed. RDGI’s aim is to advocate for greater government investment in research, education, health care services and social support to help individuals and families affected by a rare disease – including those who are undiagnosed.
A key component of the program is training primary care physicians to identify rare disease signs and symptoms.
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  • RDGI has provided genetic testing for more than 200 patients
  • Over 20% of the patients tested received a definitive diagnosis
  • Partnerships with organizations to provide credibility, technical expertise, and genetic testing
  • Resourcefulness in getting a “proof of concept” program off the ground, including the ability to mobilize volunteers as a short-term solution
  • Capacity to build an evidence base, document impact and publish finds to advance advocacy efforts
  • Training primary care physicians is an effective path to referral.
  • Patients must be kept at the core – the needs assessment process has been essential in identifying and addressing patients’ diverse needs.
  • Be sensitive to health seeking behaviors.
  • Collaboration with the right partners helps to build credibility.

Case Study: Informing New Zealand’s First Rare Disorder Strategy 

Pillar(s): Policy

Country(ies): New Zealand

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Program Overview

Rare Disorders NZ led the charge in mobilizing a diverse group of patient advocates to provide input on the country’s first rare disease strategy. The organization work closely with the Ministry of Health and build a strong relationship with government officials to ensure that the strategy reflected the community’s concerns from the patient perspective, with a focus on the marginalized Māori community.
Rare Disorders NZ collaborated with the government to gather input from patients and clinical experts. They organized online focus groups to provide critical feedback and helped to provide a unified voice on priority issues for the government to consider and include in the strategy. In July 2024, Aotearoa New Zealand’s Rare Disorders Strategy was released.
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  • Working relationship between rare disease patient advocates and national government
  • History of patient advocates influencing health policies
  • Feasibility to unite disparate rare disorder patient groups behind a joint cause
  • Identified patient advocacy group that has the credibility, support, and trust to lead an umbrella
  • Channels in place to encourage diverse voices to contribute their perspectives
  • Commitment and ability to actively include underrepresented groups to ensure equitable solutions
  • Strong relationships with the clinical community and alignment on relevant policy issues
  • Push to get your voice heard
  • First-hand data from people living with a rare disorder is critical to understanding needs.
  • Focusing on the most underserved is an important step in ensuring progress for all New Zealanders.
  • Recognize the value of advocacy even when it does not lead to immediate success.

Case Study: Philippines Newborn Screening Act 

Pillar(s): Policy

Country(ies): Philippines

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Program Overview

The Philippines Newborn Screen Project (PNSP) started as a pilot in 1996 to determine the occurrence of five prevalent conditions: congenital hypothyroidism, congenital adrenal hyperplasia, phenylketonuria, galactosemia, and homocystinuria. The goal of PNSP was to generate data that would show the national government the value of newborn screening (NBS).
Analysis of the pilot study revealed the country would save USD$11.42 million annually if newborn screening for rare disease was implemented nationally. This information led to the eventual passage of the landmark legislation – the Philippines Newborn Screening Act.
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  • It is estimated close to 300,000 babies have been spared the potential harm of a rare disease as a result of NBS.
  • The number of facilities offering NBS has increased from 24 in 1996 to over 7,000 as of 2023.
  • The number of disorders being screened has increased from 5 to 30.
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  • Ability to mobilize many hospitals to commit the resources required to participate in a new initiative and share information
  • Capacity to generate data the policy makers will finds compelling
  • Strong relationships across different stakeholders to drive a vision
  • Willingness to learn from experts in other countries and take advantage of their experience
  • Data drives decision making.
  • Early government buy-in is essential.
  • Funding does not have to be a barrier to test solutions.
  • Community engagement and buy-in cannot be underestimated.
  • NBS programs should fit within the health care infrastructure.

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To advance the field, we believe it is critical to learn from peers about how they are making major strides in diagnosis for rare disease.
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The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease is an association composed of a diverse group of organizations and individuals committed to shortening the time for an accurate diagnosis for all children with rare diseases. The views expressed herein are solely those of the Commission and do not represent any individual, co-chair, or member organization’s views or opinions.