Finding buried genetic test results in the electronic health record is inefficient and variable across institutions
Leveraging the IDDRC network, we found that methods to store, search and extract genetic testing results vary widely, especially regarding older test results, and have distinct benefits and limitations. Limitations are best addressed through practice guidelines that standardize storage and retrieval of genetic test results to facilitate efficient identification of research eligible subjects and genomic-informed patient care.
Authors
- Maria Niarchou (ORCID: https://orcid.org/0000-0002-8855-7393)
- Megan A. Clarke (ORCID: https://orcid.org/0000-0003-0435-7376)
- Prabhu Shankar (ORCID: https://orcid.org/0000-0001-9909-8527)
- Constance Smith‐Hicks (ORCID: https://orcid.org/0000-0001-8241-9574)
- Suma P. Shankar (ORCID: https://orcid.org/0000-0001-7100-5691)
- Jeffrey L. Neul (ORCID: https://orcid.org/0000-0002-5628-5872)
- Qiang Chang (ORCID: https://orcid.org/0000-0002-7625-2170)
- Maya Chopra (ORCID: https://orcid.org/0000-0002-2574-3375)
- Jomol Mathew (ORCID: https://orcid.org/0000-0002-5229-4552)
- Piotr Sliz (ORCID: https://orcid.org/0000-0002-6522-0835)
- Kendell German (ORCID: https://orcid.org/0000-0002-0046-621X)
- Inez Y. Oh (ORCID: https://orcid.org/0000-0002-0780-8710)
- Shira Rockowitz (ORCID: https://orcid.org/0000-0003-1490-592X)
- Angela D. Sellitto
- Benjamin W. Darbro (ORCID: https://orcid.org/0000-0001-9279-356X)
- Selvin Soby (ORCID: https://orcid.org/0000-0001-9706-4999)
- Dan Doherty (ORCID: https://orcid.org/0000-0001-9377-028X)
- Andrea Lynne Gropman (ORCID: https://orcid.org/0000-0002-2106-6776)
- Alyssa S. Wetzel (ORCID: https://orcid.org/0000-0002-0448-6285)
- Dustin Baldridge (ORCID: https://orcid.org/0000-0002-6027-6020)
- Julie S. Cohen (ORCID: https://orcid.org/0000-0003-1545-0293)
- Mustafa Şahin (ORCID: https://orcid.org/0000-0001-7044-2953)
- Seth Berger (ORCID: https://orcid.org/0000-0001-7517-4302)
- Olivia J. Veatch (ORCID: https://orcid.org/0000-0002-5509-7749)
- Virginia Lanzotti (ORCID: https://orcid.org/0000-0002-3581-6646)
- Rashi Raizada
- Mihailo Kaplarevic
Institutions
- University of Iowa (US)
- Boston Children's Hospital (US)
- Kennedy Krieger Institute (US)
- Albert Einstein College of Medicine (US)
- Children's National (US)
- University of Wisconsin–Madison (US)
- University of Washington (US)
- Washington University in St. Louis (US)
- University of Kansas Medical Center (US)
- University of California, Davis (US)
- Vanderbilt University Medical Center (US)
Publication Details
- Journal
- Therapeutic Advances in Rare Disease
- Published
- 2025-04-01
- DOI
- https://doi.org/10.1177/26330040251356521
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00