The Routine Failure to Clinically Identify Monogenic Cases of Common Disease in Clinical Practice: Addressing Diagnostic Misattributions and Errors
Changes in clinical and laboratory practice are needed to improve the diagnosis of monogenic forms of common diseases. This webinar seeks to focus attention on the need for universal genetic testing in common diseases for which the recommended clinical management of patients with specific monogenic forms of disease diverges from standard management and has evidence for improved outcomes.
The speakers will review evidence from genomic screening of large patient cohorts, which has confirmed that monogenic case identification failures are commonplace in routine clinical care. These case identification failures constitute diagnostic misattributions-even diagnostic errors- where the care of individuals with monogenic disease defaults to the treatment plan offered to those with polygenic or non-genetic forms of the disease. The number of identifiable and actionable monogenic forms of common diseases is increasing with time. The presenters will use examples of common diseases for which universal genetic test implementation would drive improved care. They will examine the emerging evidence to support genetic testing for common diseases, discuss barriers to widespread implementation and propose an evidence-based approach for moving forward.
Michael F. Murray, MD
Yale Center for Genomic Health
Department of Genetics
Yale School of Medicine
New Haven, CT
Noura S. Abul-Husn, MD, PhD
Institute for Genomic Health
Division of Genomic Medicine, Department of Medicine
Icahn School of Medicine at Mount Sinai
New York, NY
Ned Calonge MD, MPH
Department of Family Medicine
University of Colorado,
- Murray MF et al, Addressing the routine failure to clinically identify monogenic causes of common disease. Genome Medicine 14, Article number: 60 (2022)
- Abul-Husn NS et al, Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016;354(6319).
- Grzymski JJ et al, Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Nat Med. 2020;26(8):1235-9.
- Manickam K et al, Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Netw Open. 2018;1(5):e182140.
- Murray MF et al, Bringing monogenic disease screening to the clinic. Nat Med. 2020;26(8):1172-4.
- Murray MF et al, DNA-Based Population Screening: Potential Suitability and Important Knowledge Gaps. JAMA. 2020;323(4):307-8.
- Office of Genomics and Precision Public Health, Office of Science