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 aims to understand the journey to genomic testing and services and identify the supports families need during the diagnostic period. A semi-structured interviews with 24 parents of children with a rare condition is conducted. Three themes of the parent experience are identified:
- The need for a streamlined pathway through the healthcare system.
- The value of healthcare professionals who listen to parents, believed them, and partnered with them.
- The power of accurate diagnosis.
The findings of this study 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. Read the full article here.