Genetic counseling in pediatric inborn errors of immunity: perspective piece on current practice and considerations

Genomic testing is now an essential part of diagnosing and treating individuals with inborn errors of immunity (IEI). With most IEI presenting in childhood, innovative models of care are needed to ensure timely delivery of high-quality genomic testing, while also addressing the unique genetic counseling issues that arise in pediatric genomics. This paper aims to describe the genetic counseling considerations and the associated ethical, legal, and social implications of delivering genomic testing for IEI. First, pretest considerations are explored, including obtaining informed consent and identifying and arranging appropriate testing. Secondly, result interpretation, variant classification, and result communication are discussed. Lastly, ethical, legal, and social considerations, such as facilitating cascade testing, supporting family communication, enabling reproductive planning, and attending to families’ psychosocial needs, are addressed. Throughout the paper, we also explore how genetic counselors can partner with immunology clinicians to provide the knowledge and skills needed to optimize the utilization of genomic testing for pediatric patients and families affected by IEI. By addressing these critical aspects, this paper aims to enhance the integration of IEI genomic testing into clinical practice, foster multidisciplinary collaboration, and ultimately improve outcomes for pediatric patients and their families.