Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

Abstract

The use of whole exome sequencing (WES) for diagnostics of children with rare genetic diseases raises questions about best practices in genetic counselling. While a lot of attention is now given to pre-test counselling procedures for WES, little is known about how parents experience the (positive, negative, or inconclusive) WES results in daily life. To fill this knowledge gap, data were gathered through in-depth interviews with parents of 15 children who underwent WES analysis. WES test results, like results from other genetic tests, evoked relief as well as worries, irrespective of the type of result. Advantages of obtaining a conclusive diagnosis included becoming more accepting towards the situation, being enabled to attune care to the needs of the child, and better coping with feelings of guilt. Disadvantages experienced included a loss of hope for recovery, and a loss by parents of their social network of peers and the effort necessary to re-establish that social network. While parents with conclusive diagnoses were able to re-establish a peer community with the help of social media, parents receiving a possible diagnosis experienced hurdles in seeking peer support, as peers still needed to be identified. These types of psychosocial effects of WES test results for parents are important to take into account for the development of successful genetic counselling strategies.

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

“…Similar to studies on reactions to CMA and CES testing that have reported parental feelings of relief, better ability to cope with guilt, but also worry and a loss of hope for the future, our results indicate that CES elicits many different emotions in parents. While frustration, worry and fear were some of the most frequent emotions reported upon learning results, curiosity and relief were reported nearly as often.…”

“…Parents express a duty to pursue testing and feelings of worry and relief regardless of their child's results; and acceptance, empowerment, and more focused care when results identify a diagnosis . Parents also report isolation and loss of hope about the future, particularly when the diagnosis is novel or rare, but are accepting of uncertain information . While parents endorse the potential of CES as a diagnostic tool and many want to learn secondary results, some are ambivalent about learning uncertain results .…”

A Model Program for Translational Medicine in Epilepsy Genetics

“…Additionally, the genetic counselor ensures that the families have a reasonable expectation of the ways in which a genetic test result may or may not inform clinical care, and addresses the psychosocial implications of genetic testing. 15 The epileptologist and genetic counselor work together to design and implement a plan for genetic testing, interpret genetic test results, and make recommendations for follow up.…”

Choosing Wisely Canada: The Canadian College of Medical Geneticists’ (CCMG) list of five items physicians and patients should question

“…Furthermore, due to methodological limitations, WES may not always be the correct test to order as WES will not detect all genetic causes of disease (eg, it will not detect chromosomal structural differences) 14. Both informative and uninformative results can lead to complex patient and family psychosocial repercussions15 and could impair future insurability. Genetic counselling facilitates informed decision making.…”