2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Rapid Genome Provides Unexpected, Highly Actionable Answer for Critically Ill Patient

Pdf Summary

A case study is presented where rapid genomic testing led to a surprising diagnosis and significant changes in treatment for a critically ill patient. The patient presented with a variety of symptoms including diarrhea, severe malnourishment, aspiration pneumonia, hypercalcemia, and respiratory distress. Extensive testing and consultations were conducted, but the patient's prognosis remained grim. Rapid genome sequencing was ordered and revealed a pathogenic variant in the RET gene associated with multiple endocrine neoplasia Type 2. This led to the discovery of metastatic medullary thyroid carcinoma (MTC) as the unifying diagnosis for the patient's symptoms. The patient was started on selpercatinib, a kinase inhibitor specifically targeting RET, and showed significant improvement in tumor marker levels and weight gain over the course of therapy. She was successfully extubated and able to walk again, eventually being discharged to inpatient rehabilitation services. The case highlights the importance of early use of rapid genomic testing in critically ill patients and the need to interpret findings broadly to allow for atypical presentations of known disorders. Rapid genome sequencing can lead to specific treatment options that greatly impact the prognosis of critically ill patients.

Asset Subtitle

Presenting Author - Gabrielle C. Geddes, MD; Co-Author - Brett H. Graham, MD, PhD; Co-Author - Riad Lutfi, MD; Co-Author - Sarah Ackah, MD; Co-Author - Hongzheng Dai, Ph.D, FACMG; Co-Author - Gregory Montgomery, MD; Co-Author - Kyle W. Jackson, MD;

Meta Tag

Cancer Syndromes

Genetic Testing

Genome sequencing

Co-Author Brett H. Graham, MD, PhD

Co-Author Riad Lutfi, MD

Co-Author Sarah Ackah, MD

Co-Author Hongzheng Dai, Ph.D, FACMG

Co-Author Gregory Montgomery, MD

Co-Author Kyle W. Jackson, MD

Presenting Author Gabrielle C. Geddes, MD

Keywords

genomic testing

diagnosis

treatment

critically ill patient

symptoms

genome sequencing

RET gene

medullary thyroid carcinoma

selpercatinib

prognosis