Adaptation to living with a genetic condition or risk: a mini‐review

Abstract

One goal of genetic counseling is to facilitate client adaptation to a genetic condition or risk. Adaptation refers to both the process of coming to terms with the implications of the condition or risk and the observable outcomes of that process. This review summarizes existing studies on how well clients adapt to living with a common chronic disease, and more specifically, a genetic condition. Overall, it appears that about one‐third of clients do not adjust well to the stress of living with a genetic condition or at risk. However, the data are limited by inconsistencies in the conceptualization of adaptation, a paucity of theoretical models, poor study design and inadequate outcome measures. Well‐designed studies based upon multidimensional models are needed that focus on familial as well as individual adaptation. We conclude with a summary of studies that have explored the use of interventions to enhance adaptation and suggest improved client outcomes. Further research should result in evidence‐based interventions to facilitate client adaptation that can be used effectively by genetic providers within the confines of their clinical work.

Mothers’ psychological adaptation to Duchenne/Becker muscular dystrophy

“…Disorder-specific adaptation is defined as a process of coming to terms with the implications of a health threat and the outcomes of that process. 16 Across patients and caregivers, factors reported to be associated with adaptation include personality traits such as optimism; economic resources; social support; cognitive and emotional appraisals of the condition, including disease impact and control; and coping strategies and efforts to make meaning of the disease experience. [16][17][18] Our choice of psychological adaptation to DBMD as the study outcome is consistent with the preferences expressed during community engagement (described below).…”

Psychological Issues in Genetic Testing for Inherited Cardiovascular Diseases

“…Examples include gaining control (ie, self-education, maintaining privacy, and active participation in treatment decisions), talking or writing about experiences, and developing personal resources. 16 In HCM patients, psychological well-being, good adjustment, low worry, and compliance with treatment are directly related to the information provided to and time spent with the patient, understanding of the condition, and relationship with the clinical providers, emphasizing the importance of a multidisciplinary approach. 17 Perhaps for that reason, HCM patients who are followed at a specialty clinic have lower levels of depression and anxiety.…”

“…16 Parents are faced with difficult choices in attempting to find a balance between protectiveness from risk of serious events (ie, SCD) and maintenance of normal peer interactions. 74,75 Imposed physical activity restrictions can invoke frustration over social isolation from peers.…”

Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice

“…23,34,35 In cases where clinical evaluation is less important, genetic counsellors could take the role of providing follow-up. Contact with a genetic counsellor following their consultation would offer opportunities to address misunderstandings and facilitate positive adaptation in the patient and their family, which is central to the genetic counselling process.…”