Mainstreaming Genomic Testing for Pediatric Inborn Errors of Immunity: An Evaluation of a Novel Model of Care for Genetic Counselors

Abstract

Background: Genetic diagnosis of pediatric of inborn errors of immunity (IEI) influences management decisions and can alter clinical outcomes through guiding targeted or curative therapy. With increasing demand for genetic services, new models of care are needed to ensure families have coordinated, appropriately targeted and timely access to genomic testing. Aims: To i) evaluate the feasibility of a mainstreaming model of care in identifying positive cases of IEI, ii) impact of genomic testing on treatment outcomes, and iii) patient reported outcomes of parents of children who had genomic testing. Methods: This state-wide program included a genetic counselor embedded within the pediatric immunology service, fortnightly multidisciplinary team meetings (MDT) to guide patient and test selection, interpretation of whole exome sequencing results, and variant prioritisation meetings. Parents completed pre-and post-testing survey assessing understanding of, and impact of genomic testing. Recruitment occurred between November 2020 and September 2021. Results: Of the 43 children recruited, nine (21%) received a genetic diagnosis, of which four progressed to curative therapy. Additional investigations were arranged for children with a suspicious VUS (n = 2) and negative result (n = 2). On average, 14 healthcare providers attended the state-wide MDT, including pediatric and adult immunologists, genomic pathologists, genetic counselor, and other non-genetic-healthcare providers. Mean time of referral to consent was 34 days. Parents demonstrated understanding of the implications of testing and reported minimal decisional regret. Conclusion: Genomic testing can be mainstreamed for pediatric IEI. Our program improved access to genomic testing, facilitated treatment decision-making, and was acceptable to parents and clinicians alike.