An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes
Our findings demonstrate that policies vary widely, and genetic counselors are concerned about the potential impact of this variability on the quality of care for patients with JHS/hEDS.
Authors
- Lauren Boucher (ORCID: https://orcid.org/0000-0003-3152-6155)
- Daniel Groepper (ORCID: https://orcid.org/0000-0002-5917-2988)
- Colin Halverson (ORCID: https://orcid.org/0000-0002-4205-7860)
- David R. Deyle (ORCID: https://orcid.org/0000-0002-5231-5368)
- John M. Quillin (ORCID: https://orcid.org/0000-0001-7577-8990)
- Berkley Nestler
Institutions
- Regenstrief Institute (US)
- Virginia Commonwealth University (US)
- Southern Illinois University School of Medicine (US)
- Mayo Clinic in Arizona (US)
- Mayo Clinic in Florida (US)
- Richard M. Fairbanks Foundation (US)
- Indiana University School of Medicine
- Indiana University – Purdue University Indianapolis (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2024.101960
- Citations
- 1
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- National Institutes of Health
- National Human Genome Research Institute