New developmental syndromes: Understanding the family experience

Abstract

Increased application of next generation sequencing has led to the discovery of a multitude of new neurodevelopmental syndromes, contributing to an increased diagnostic rate for exome sequencing from 25% originally to 40% currently. Owing to the recent recognition of these syndromes, as well as the types of large‐scale studies (with limited phenotype information) often making these discoveries, these disorders may be poorly characterized clinically. As a result there is very limited information and disorder‐specific support available to patients and families. We used a qualitative approach to explore how families experience a diagnosis of a new syndrome. We conducted semi‐structured telephone interviews with parents and adult siblings of children who received a diagnosis of a new syndrome after whole exome sequencing (WES) performed through a translational research study. The interviews were recorded, transcribed verbatim, and transcripts were analyzed using grounded theory methods. Analysis of the 12 interviews revealed that a lack of information about the child's condition continues to play a large role in these families' experiences even after diagnosis. Almost all (92%) participants expressed ongoing uncertainty about their child's health and future. Most (83%) participants were interested in identifying other families with the same syndrome, which was related to both social support and seeking of information. Interestingly, 33% of participants worried about the child's risk for cancer due to their syndrome. Our results highlight some of the needs of families of children with new syndromes, and emphasize important issues care providers should address in pre‐ and post‐test genetic counseling for WES and whole genome sequencing.

Toward the diagnosis of rare childhood genetic diseases: what do parents value most?

“…Findings reflect previous qualitative work suggesting that a diagnosis alone is a necessary but insufficient condition to alleviate parental stress and anxiety [ 47 ], and that parents are primarily motivated by the potential for improved disease management for their children [ 19 ]. Our findings are consistent with previously reported support for genetic counselling throughout the testing and care trajectory [ 25 , 47 , 52 ], as well as guidelines recommending counselling for families considering sequencing [ 53 ]. Our participants further echoed existing concerns about data privacy and security [ 25 , 51 ].…”

Supporting families of children with an undiagnosed genetic condition: Using co‐design to ensure the right person is in the right post doing the right job

“…The data collected support existing evidence of the need for better care coordination for children with undiagnosed genetic conditions and their families (Baumbusch, Mayer, & Sloan‐Yip, 2019; Rare Disease UK, 2013), with parents indicating this as their greatest need. The highly compartmentalized systems of medical management, health and social care systems, and the need for parents to navigate their way through these systems and processes is beginning to be described for this population of children (Currie & Szabo, 2019; Inglese et al, 2019); challenges were mirrored in our discussions with families in our project. Whilst emotional support for parents featured as being important, this was not seen as a priority for many parents who favoured the nurse's direct involvement in liaising with the community, supporting the whole family and advocating for them.…”

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease

“…Parents of children with chronic or rare disorders report not having the tools needed to be successful in formulating next steps, face challenges in coordinating complex medical care with multiple providers, limited opportunities to connect to and learn from other parents, as well as little information on the long‐term consequences or medical management of the child's condition . With less than half of children undergoing genomic sequencing obtaining a diagnosis and with these diagnoses likely to be rare, ultra‐rare, or unique disorders for which little is known, high parental expectations and importance placed on a diagnosis are unlikely to be met . Thus, challenges may exist for each step in the process toward parental genomic health care empowerment.…”

“…6,38,40 With less than half of children undergoing genomic sequencing obtaining a diagnosis and with these diagnoses likely to be rare, ultra-rare, or unique disorders 41 for which little is known, high parental expectations and importance placed on a diagnosis are unlikely to be met. 6,42 Thus, challenges may exist for each step in the process toward parental genomic health care empowerment. We believe that the GEmS has the potential to identify parents who may be at risk for a poorer outcome, as well as specific areas where they may benefit from targeted genetic counseling interventions and perhaps psychological referral.…”