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At least 263 million individuals are living with rare genetic disorders, 70% of which have pediatric onset.1 For many of these patients, guidelines recommend exome or genome sequencing as a first-line test, which provides the highest diagnostic yield. In addition, the cost of testing has declined over the past decade and an increasing number of insurance providers offer reimbursement.
Despite all this, many patients still experience a lengthy diagnostic odyssey before receiving exome or genome sequencing. In recent years, that delay has been exacerbated by the medical geneticist workforce not growing at a rate that maintains pace with the demand for testing.
Genetic counselors are uniquely positioned to partner with specialty pediatric clinicians to help identify exome/genome-eligible patients and facilitate testing. This session will illustrate the clinical and diagnostic utility of genetic counselors partnering with specialty clinics to facilitate testing and highlight their impact on the diagnostic odyssey for exome/genome-eligible patients.
This session, which is now full, is pending approval for CEU credit.
Ernest N. Morial Convention Center
Rooms: 278 – 282
Reference: 1. Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020 Feb;28(2):165-173. doi: 10.1038/s41431-019-0508-0.
