Jeffrey’s insights: Jeffrey Modell Foundation’s global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment

• DOI: 10.1007/s12026-020-09131-x
• Publication Date: 2020-05-27T12:02:52Z
• Authors: Jessica Quinn; Vicki Modell; Jennifer Holle; Rebecca Truty; Swaroop Aradhya; Britt Johnson; Jordan Orange; Fred Modell
• Keywords: Primary Immunodeficiency; Disease management

Abstract Primary immunodeficiencies (PI) are genetic defects of the immune system that result in chronic and often life-threatening infections and/or autoimmunity if not diagnosed treated. Patients with a suspected PI, but without diagnosis, commonly undergo diagnostic odyssey is costly, time-consuming, arduous. This delay diagnosis prevents appropriate disease management treatment, contributing to prolonged suffering decreased quality life. Although next generation sequencing (NGS) can provide these patients relief from such odyssey, it unavailable, mainly due cost inaccessibility. In January 2019, Jeffrey Modell Foundation (JMF) launched free pilot program for Centers Network (JMCN) clinically an underlying PI. A total 21 sites within JMCN were invited participate. JMF collaborated Invitae, testing was comprised Invitae’s Immunodeficiency Panel, which currently includes 207 genes. questionnaire disseminated each participating physician evaluate barriers access changes treatment after testing. One hundred fifty-eight 29 family members tested this study. Twenty-one percent monogenic disorder received molecular others potentially useful leads. Based on results sequencing, clinical altered 45% patients, 40%, 36%, counseling 62%. The demonstrate utility, cost-efficiency, critical importance NGS PI make case broad scale sequence–based diagnostics when requested by expert immunologists.