Exploring the journey to genomic testing and genetic services: A qualitative study of parental perspectives of children with rare conditions

Despite affecting a small portion of the population, rare conditions have a significant impact, collectively affecting around 300 million people worldwide. Historically, early diagnosis has been impeded by failure to recognize rare conditions and order/refer for appropriate genomic testing. The advancements in genome sequencing offer a more agnostic and accelerated approach to the identification and diagnosis of rare disorders, potentially improving health outcomes, reducing the impact of disability, and reducing financial and psychological burdens on families. Due to the complex nature of these conditions, early engagement with genomic testing and clinical genetics services is key to facilitating a diagnosis. This qualitative exploration aimed to understand the journey to genomic testing and services and identify the supports families need during the diagnostic period. We conducted semi-structured interviews with 24 parents of children with a rare condition. Interviews were analyzed using inductive reflexive thematic analysis. Three themes of the parent experience were identified (1) the need for a streamlined pathway through the healthcare system, (2) the value of healthcare professionals who listen to parents, believed them, and partnered with them, and (3) the power of accurate diagnosis. Our findings indicate that providing direct and timely access to genomic testing for patients with a suspected rare condition could alleviate psychological and financial stressors. Genetic counselors are adept at supporting families affected by rare conditions and are optimally placed to facilitate timely access to genomic testing. Improving timely access may be facilitated through educating primary care physicians and embedding genetic counselors in pediatric settings.