Although the genetic diagnosis can be important for clinical care, the impact of genetic testing on children and families is not well understood. To address this, our team set out to investigate the experiences of families 26 Australian families who received genetic testing for their child’s kidney disease. We carried out in-depth interviews with parents to understand the psychosocial impacts of genetic kidney disease and to identify their information and support needs.
Parents’ Experiences of Genetic Testing
Our findings demonstrated that genetic testing can be an “emotional rollercoaster” for families. Parents were motivated to have genetic testing for their child in the hope that the test results would enhance their child’s clinical care and improve outcomes for their child. It was particularly important for parents to feel supported by their child’s treating clinical team when undergoing testing to ease levels of anxiety awaiting the test outcome. Regular communication between families and their child’s treating team, with clear and compassionately delivered information increased parents’ levels of trust and helped them to feel reassured.
The Psychosocial Impact of a Genetic Test Result
Parents expressed positive attitudes towards the genetic diagnosis when it improved their understanding of their condition and provided them with insight into possible outcomes. Emotional benefits associated with receiving the genetic diagnosis included providing a sense of closure and opportunity to prepare for their child’s future emotionally and practically. Parents often reported that the genetic diagnosis empowered them with information to optimally manage their child’s kidney disease and to explain their child’s condition. Many parents found that the genetic diagnosis helped them to connect with peer support groups. Importantly, getting connected with a shared community reduced social isolation and improved parents’ capacity to adapt to their child’s diagnosis.
However, timing was important for families and delayed diagnoses and genetic diagnoses that had less of an impact on their child’s clinical care were described to be discouraging. Often families expressed profound uncertainty for their child’s future and how the genetic diagnosis would progress. Our families told us that they would have benefited from having condition specific resources and improved communication tools to explain the range of timeframes it could take to receive a genetic diagnosis. Guidance on how to appropriately explain their child’s genetic CKD in an age-appropriate manner was frequently desired. Parents reflected that establishing peer support groups for adolescents living with CKD would be a valuable.
Preferences for Genetic Information.
Parents felt “overloaded” with emotions during clinical genetics appointments, which made it hard to absorb complex genetic information. Time to process the content delivered during genetics appointments was important and parents reported that accessible, take-home resources helped them to “digest” genetic information.
Parents were aware that genetic research was advancing, and this gave some parents increased hope for their child’s future. Being knowledgeable and keeping updated with research developments regarding regarding their child’s genetic diagnosis was considered important. An accessible, online platform with expert information specific to their child’s genetic condition was the preferred format for this information.
Considering the critical need for fast-pace information required by parents and families undergoing genetic testing. We hope that our findings will promote and inform the development of accurate and accessible resources that address the holistic needs of families and children with genetic kidney disease.
You can read more about this research here