Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: “It's the more negative ones that you remember”

Rare genetic conditions (molecularly diagnosed and undiagnosed) of childhood are typically complex in presentation and natural history. Consequently, the diagnostic odyssey can result in families having multiple interactions with diverse healthcare professionals. The quality of these interactions has been relatively underexplored. Semi-structured interviews explored various parental experiences of communications with genetics and non-genetics healthcare professionals in Australia. Fourteen parents (12 mothers and 2 fathers) of children with rare conditions (12 diagnosed and 2 undiagnosed) agreed to participate. Each interview was recorded, transcribed, and explored using reflexive thematic analysis. Six themes pertaining to the parental experience of communication around genomics were generated. The first is “the need for family-centered care” where parents described the importance of involving their child in discussions, even when they are non-verbal. Second, “the value of à la carte communication”, highlighted that respectful communication, tailored the needs of each family, was highly valued and improved understanding. The third and fourth themes were “technical language is overwhelming” and “negative word choices can be ‘soul destroying’,” respectively. These themes captured how insensitive and/or overly complex discussions, can have negative and lasting effects. The fifth theme, “all results (diagnostic and non-diagnostic) are significant,” underscored the profound emotional impact of receiving genetic results. The final theme, “where to from here?” revealed that many parents felt abandoned after receiving genetic results and were left to “sink or swim.” Only half of participants had seen a genetic counselor and none could recall being referred to support groups. In conclusion, this study emphasizes the power of language, empathy, and clear, respectful communication for families affected by rare conditions. Additionally, it highlights that these families should have access to genetic counseling and receive referrals for practical and emotional support regardless of whether their child has a molecular diagnosis.