The aim of this study was to develop a brief, easy-to-use psychosocial screening instrument specific to the genetic testing context and to examine its reliability and validity (Appendix A). To our knowledge, this is the first report of a psychosocial screening instrument for use across AOHD. Unlike current psychological instruments used mainly in research studies in genetics clinics to identify existing global symptoms of depression and anxiety, or impacts, the GPRI assesses psychological risk factors, such as the specific anticipated impacts of a genetic testing result and the perception of the disease. The GPRI demonstrates promising psychometric properties as a tool designed to assist genetics healthcare providers determine which of their patients undergoing genetic testing for AOHD is at increased psychological risk and should quite likely be considered for additional psychosocial support to facilitate adjustment to a test result.
A high reliability was demonstrated by a Cronbach’s α at 0.81, moderate to high item-total correlation and inter-item correlation of the whole scale. The construct validity of the scale was supported by high correlations between the GPRI and standardised psychological measures (BSI, IES). The clinical utility and predictive value of the GPRI was supported as well. A GPRI score above the cut-off of 50 at baseline was able to predict 84% of ‘distress’ cases identified by HAM-D or HAM-A, a strong indicator of its potential usefulness in a clinical setting.
A brief self-administered screening tool will be easy and quite likely highly acceptable for incorporation into genetics clinics. The GPRI can be completed and scored quickly during clinical visits and without additional burden to patients and health providers. In addition, by focusing specifically on known risk factors associated with inheritable illness, the instrument will be perceived as being more clinically relevant and acceptable to patients. Patients with higher GPRI scores can be flagged and either receive telephone follow-up to further assess concerns or potential distress or be invited back for an appointment for further assessment and required psychological treatment.
Alternatively, genetic clinics with available psychosocial personnel could utilise the tool to guide referrals for a formal psychosocial assessment that can further explore and address specific, self-reported psychological factors. For example, in the case where an individual is particularly fearful of developing an illness or is concerned about specific impacts, such as expecting relationship or family communications difficulties, information on communication strategies, personal coaching or family-based interventions could be employed to support the individual. For an individual who reports a history of psychological illness, a mental health professional could further assess current psychological functioning and implement specific approaches, as well as offering cognitive-behavioural strategies or psychotropic medication to assist in the management of anxiety or depressive symptoms.40
Several items incorporate variables related to heritable disease experiences and associated perceptions which can be used to guide educational interventions to correct any myths or beliefs.
The scale appeared highly acceptable to patients. A high face validity will contribute to better scale uptake being perceived as ‘user friendly’ and clinically relevant, compared, for example, with a standardised psychological instrument on depression, which has demonstrated some barriers to clinic uptake.19
The GPRI, by contrast, might be considered as a ‘communimetric measure’, that is, the items themselves are useful for the clinician in communicating concerns about specific areas of functioning directly with the patient.41
Left untreated, significant levels of psychological symptoms may lead to a lower quality of life40
and lower satisfaction with genetics services21
A psychological screening approach allows both for careful monitoring during a known stressful period—that of awaiting test results42
—and provides an opportunity for any planned follow-up care. Flagging those individuals who might benefit most from psychosocial care also best utilises the often limited psychological resources in genetic clinics.2
Our study findings are limited by the characteristics of the sample, in that most participants were women and undergoing testing for BRCA1/2. This pattern is similar to that observed in the literature on genetic testing for AOHD, which is predominantly focused on the Hereditary Breast-Ovarian Cancer Syndrome. We attempted to obtain a larger sample of individuals undergoing genetic testing for HD or Lynch Syndrome, which would presumably provide a greater sample of males. However, these sample pools were much smaller. However, this study and the resulting GPRI represent an attempt to begin the development of a general tool that addresses concerns that are relevant across genetic samples. Our belief, stemming from clinical practice and the associated literature, suggests that the identified mental health issues or adjustment risk factors are not disease specific. We suggest that future studies further address the validity of GPRI in male populations and in the rare adult onset hereditary diseases, such as HD. Future studies should also include randomised controlled trials to assess the effectiveness of the GPRI in predicting distress, its impact on referral patterns, patient and provider satisfaction, as well as on cost-effectiveness. The GPRI could also be evaluated in primary care settings where genetics services might be offered more frequently to meet the demand.