Deep Interpretation of Complex Clinical Cases
This page is dedicated to the Deep Interpretation of Complex Clinical Cases research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Deep Interpretation of Complex Clinical Cases research study is led by Dr. Wendy Chung, Physician in Chief, and supports reanalysis and reinterpretation of, or a “second look at,” clinical genetic testing. At Boston Children's Hospital, a network of 200 clinicians routinely order clinical genomic testing. The study aims to identify genetic causes for undiagnosed, complex cases and provide personalized medicine.
Disease Information
When children have complex medical conditions, genetic testing is often used to find answers. About 30% of the time, this testing provides a genetic diagnosis. For the other 70%, the search for answers continues. Over time, new genes are linked to diseases, and new analyses can help solve some of these cases using existing genetic data.
Findings from these reanalyses and reinterpretation are confirmed by GeneDx before being reported. The CRDC Data Science team uses advanced tools to help identify genetic variants and supports these efforts.
Participate in Research
Physicians may refer their patients with complex conditions to Dr. Chung. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Chung’s studies on the Chung Lab webpage.
Patient Care
Patients and their families with complex medical conditions can be seen by expert multidisciplinary teams at Boston Children’s, which include the Complex Care Service and Integrated Care Program.
Investigators
Divisions
Notable Publications by Investigators
- Improvement of variant reclassification in genetic neurodevelopmental conditions.
- Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
- Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders.
- Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT.
Disease Support Organizations
Exceptional Lives
Exceptional Lives is a not-for-profit organization that provides information on resources and services for families of children with special needs. This platform is especially useful for residents of Massachusetts and Louisiana, as it helps parents and caregivers find doctors and programs near them. For residents of other states, the site provides a helpful guide on available national programs.
Rare Disease Diversity Coalition
Rare Disease Diversity Coalition (RDCC) was launched by the Black Women’s Health Imperative to address the extraordinary challenges faced by underserved populations with rare diseases. The Coalition brings together rare disease experts, health and diversity advocates, and industry leaders to identify and advocate for evidence-based solutions to alleviate the disproportionate burden of rare diseases on historically marginalized populations.
Undiagnosed Disease Network Foundation (UDNF)
UDNF is a nonprofit organization led by and for patients and their families to foster collaboration among patients, clinicians, and scientists to enhance the quality of life of undiagnosed and ultra-rare disease patients.
Beacon
Beacon is a UK-based non-profit organization that is building a united rare disease community with patient groups at its heart.