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X Demographics
Mendeley readers
| Title |
Current Practices and the Provider Perspectives on Inconclusive Genetic Test Results for Osteogenesis Imperfecta in Children with Unexplained Fractures: ELSI Implications
|
|---|---|
| Published in |
The Journal of Law, Medicine & Ethics, January 2021
|
| DOI | 10.1177/1073110516667947 |
| Pubmed ID | |
| Authors |
Emily Youngblom, Mitzi Leah Murray, Peter H Byers |
| Abstract |
Genetic testing can be used to determine if unexplained fractures in children could have resulted from a predisposition to bone fractures, e.g., osteogenesis imperfecta. However, uncertainty is introduced if a variant of unknown significance (VUS) is identified. Proper interpretation of VUS in these situations is critical because of its influence on clinical care and in court rulings. This study sought to understand how VUS are interpreted and used by practitioners when there is a differential diagnosis including both osteogenesis imperfecta and non-accidental injury.A 15-question survey was emailed to physicians who requested analysis of two genes, COL1A1 and COL1A2, from the University of Washington from 2005-2013 for patient cases involving suspicion of child abuse.Among the 89 participants, responses differed about when genetic testing should be ordered for osteogenesis imperfecta, who should be consulted about utilization of VUS test results, follow-up procedures, and who should receive the VUS results.There are no clear guidelines for how to interpret and follow up on VUS. In the legal setting, misinterpreted VUS could lead to unintended consequences and deleterious ramifications for family members. The need for better practice guidelines to help promote more equitable handling of these sensitive legal cases is clear. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 18 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 17% |
| Student > Bachelor | 2 | 11% |
| Other | 1 | 6% |
| Lecturer | 1 | 6% |
| Librarian | 1 | 6% |
| Other | 4 | 22% |
| Unknown | 6 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 3 | 17% |
| Social Sciences | 3 | 17% |
| Nursing and Health Professions | 2 | 11% |
| Economics, Econometrics and Finance | 1 | 6% |
| Biochemistry, Genetics and Molecular Biology | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 7 | 39% |