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Decision support for parents receiving genetic information about child's rare disease
Investigator (PI): Sandberg, David E
Performing Organization (PO): (Current): University of Michigan, Michigan Medicine, Department of Pediatrics, Division of Developmental Behavioral Pediatrics / (734) 936-4220
Supporting Agency (SA): Patient-Centered Outcomes Research Institute (PCORI)
Initial Year: 2013
Final Year: 2017
Record Source/Award ID: PCORI/1360
Funding: Total Award Amount: $1,373,164
Award Type: Grant
Award Information: PCORI: More information and project results (when completed)
Abstract: The birth of a child with a disorder of sex development (DSD) is stressful for parents and members of the health care team. The "right" decisions about gender assignment (Is it a boy? A girl?) and the best course of action (Should there be surgery? What kind? When?) are not obvious. While there have been large advances in diagnostic assessments such as genetic testing, the tests do not always show what caused the DSD. And, even when the tests do show a genetic explanation for the DSD, knowing what happened genetically does not usually lead to a single "correct" treatment plan. Instead, it is likely that there are several good treatment options-and parents will need to make decisions based, in part, on their personal preferences, values, and cultural background. Adding more stress to the situation is the knowledge that many of the decisions that need to be made by parents early in a child's life are irreversible and exert life-long consequences for the child and the family. To support parents becoming actively involved in making those decisions, and to reduce the likelihood of future worry and regret about decisions that have been made, we will create a decision aid (DA). The DA will help educate families about typical and atypical sex development of the body; the process by which DSDs are diagnosed (especially how to interpret genetic test results); and possible relationships between diagnostic/genetic testing, decisions about care, and known consequences of those decisions on their child and entire family. The DA will be used by parents of young children together with their child's health care provider. We will bring together a network of researchers, health care providers, representatives of patient support and advocacy organizations, and parents of children with DSD to share their experiences. Participants of this network will be involved at each stage of creating the DA, revising it, and putting it into practice. At the end of this project, we will have a fully formed and tested DA that will be available for parents to use with their child's health care team as they are first learning their child may have a DSD.
MeSH Terms:
  • Decision Making
  • * Decision Support Techniques
  • Disorders of Sex Development /*diagnosis
  • /*genetics
  • Female
  • Genetic Counseling /*methods
  • Genetic Testing /*methods
  • Humans
  • Interdisciplinary Communication
  • Male
  • Parents
  • Program Development
  • Rare Diseases /*genetics
Country: United States
State: Michigan
Zip Code: 48109
UI: 20142261
CTgovId: NCT01875640
Project Status: Completed
Record History: ('Project extended to 2017, 5/18/17',)