The needs and expectations of parents of children with rare conditions that are undergoing whole exome sequencing

When a child presents with non-specific characteristics such as subtle dysmorphic features, developmental delay and/or epilepsy, it can be difficult to make a diagnosis as these findings are present in many genetic syndromes. Though advances in diagnostic testing are allowing for rare syndromes to be discovered in children who present with a range of symptoms, there are still many parents who do not have a diagnosis for their child. A recent advancement in genetic testing is whole exome sequencing (WES). This method, which sequences only regions of the genome that code for proteins, is useful for detecting disease causing variants in genes, allowing for diagnosis of rare conditions that would have gone undiagnosed in the past. As with any new genetic test, it is important that the needs and expectations of the parents of the affected child undergoing testing are being met. This qualitative study involved semi-structured interviews with nine parents. Of the participants, four families had received a genetic diagnosis from WES and five were awaiting results. The study is in progress and grounded theory will be used to analyze data. The goals of this study are to understand the parent’s perspectives on wanting a diagnosis for their child, to determine their needs as they undergo WES, and to determine if these needs are being met. Ultimately, this study aims to determine if a genetic counselor will be able to fulfill the needs of parents of children with a rare genetic disorder who are seeking a diagnosis via WES