The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for non-accepted ones.

Mulvihill, John J; Findley, Laura; Ni, Weihong; Sinsheimer, Janet S; Cole, F Session; Esteves, Cecilia; Bernstein, Jonathan A; Newman, John H; Wheeler, Matthew T; Mokry, Jill R

Mulvihill, John J; Findley, Laura; Ni, Weihong; Sinsheimer, Janet S; Cole, F Session; Esteves, Cecilia; Bernstein, Jonathan A; Newman, John H; Wheeler, Matthew T; Mokry, Jill R.

Mulvihill JJ; National Human Genome Research Institute (National Institutes of Health), Bethesda, MD;; Department of Pediatrics, University of Oklahoma, Oklahoma City, Oklahoma;. Electronic address: johmulvihill@gmail.com.
Findley L; National Human Genome Research Institute (National Institutes of Health), Bethesda, MD.
Ni W; Department of Computer Science and Mathematics, Arcadia University, Glenside, PA.
Sinsheimer JS; Departments of Human Genetics and of Computational Medicine and Biostatistics, University of California, Los Angeles, CA.
Cole FS; Department of Pediatrics, Washington University, St. Louis, MO.
Esteves C; Department of Biomedical Informatics, Harvard Medical School, Boston, MA.
Bernstein JA; Department of Pediatrics, Stanford University, Stanford, CA, USA.
Newman JH; Department of Medicine, Vanderbilt University, Nashville, TN.
Wheeler MT; Department of Medicine, Stanford University, Stanford, CA.
Mokry JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

Genet Med ; : 101203, 2024 Jul 02.

Article en En | MEDLINE | ID: mdl-38967101

ABSTRACT

ABSTRACT

PURPOSE:

Can certain characteristics identify as solvable some undiagnosed patients who seek extensive evaluation and thorough record review, like by the Undiagnosed Diseases Network (UDN)?

METHODS:

The UDN is a national research resource to solve medical mysteries through team science. Applicants provide informed consent to access to their medical records. After review, expert panels assess if applicants meet inclusion and exclusion criteria to select participants. When not accepting applicants, UDN experts may offer suggestions for diagnostic efforts. Using minimal information from initial applications, we compare features in applicants not accepted with those accepted and either solved or still not solved by the UDN. The diagnostic suggestions offered to non-accepted applicants and their clinicians were tallied.

RESULTS:

Non-accepted applicants were more often female, older at first symptoms and application, and longer in review than accepted applicants. The accepted and successfully diagnosed applicants were younger in ages, shorter in review time, more often non-white, of Hispanic ethnicity, and presenting with nervous system features. Half of non-accepted applicants were given suggestions for further local diagnostic evaluation. A few seemed to have two major diagnoses or a provocative environmental exposure history.