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NIH May 10, 2021 | K01
Surfacing values in the economic evaluation of genomic sequencing for diagnosis of children with rare diseases
Institution: STANFORD UNIVERSITY
FOA Number: PA-20-190
Abstract
PROJECT NARRATIVE Though any single rare disease is by definition uncommon, together these diseases affect nearly 30 million individuals in the United States, two-thirds of whom are children, and contribute significantly to morbidity, mortality, and healthcare costs. Exome and whole genome sequencing have the potential to provide a diagnosis to an estimated 25 to 50 percent of those patients struggling with undiagnosed rare diseases, but the downstream costs and benefits of this testing beyond diagnosis remain largely unknown. This study will contribute essential and timely data, new methods, and ethical analyses to inform both how we can, and how we should, define and measure the value of genome sequencing for pediatric patients with rare diseases.
FUNDING AGENCY:
Funder:
NIHInstitute:
NATIONAL HUMAN GENOME RESEARCH INSTITUTEFunding Type:
K01Project Number:
K01HG011341Start Date:
May 10, 2021End Date:
Feb 28, 2026PROJECT TERMS:
Affect, Anthropology, base, Bioethics, career, Caregivers, Child, Clinical, clinical care, Clinical Management, cost, Costs and Benefits, Data, design, Development, Diagnosis, Diagnostic, Disease, economic evaluation, Economic Policy, Ensure, Ethical Analysis, ethical legal social implication, Ethics, ethnographic method, Ethnography, exome, experience, Family, Family health status, follow-up, Foundations, Future, Future Generations, General Population, Genetic, Genetic Diseases, genetic testing, Genome, genome sequencing, Genomics, Goals, Health, Health Care Costs, health care service utilization, health economics, health related quality of life, Health Services Research, Healthcare Systems, Imagination, Individual, individual patient, innovation, insight, interdisciplinary approach, Intervention, Knowledge, Long-Term Effects, Measurement, Measures, Medical, Medicine, Mentors, Methodology, Methods, Modern Medicine, Morbidity - disease rate, mortality, novel strategies, Outcome, Patients, pediatric patients, Perception, Personal Satisfaction, physical conditioning, Policies, preference, psychologic, psychosocial, Rare Diseases, rare genetic disorder, Recommendation, relative cost, Research, research clinical testing, Research Personnel, Research Training, response, Scientist, skills, social, Social Well-Being, stakeholder perspectives, Surface, Technology, Testing, Time, tool, Training, United States, variant of unknown significance, Well in self, whole genome, Work
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