The effect of application-based genetic counseling on the psychosocial well-being of thalassemia patients and caregivers

Background:
Thalassemia is a genetic disease inherited in an autosomal recessive manner according to Mendel's laws, passed from parents to their offspring. The disease encompasses a spectrum of clinical manifestations ranging from the mildest form (heterozygous state), termed thalassemia minor or thalassemia trait (carrier), to the most severe form (homozygous state), known as thalassemia major. Abnormalities in the globin gene lead to disruption in the formation of alpha or beta chains, resulting in improper production of haemoglobin and subsequent destruction of red blood cells. Consequently, individuals with thalassemia require monthly blood transfusions, which impose a significant psychological burden on both the patients and their parents, who serve as their primary caregivers. The mental burdens experienced by both patients and caregivers, characterized by heightened levels of anxiety and depression, along with a diminished quality of life, underscore serious psychosocial challenges. Failure to address these issues promptly may increase the risk of long-term complications, such as severe mental illnesses like schizophrenia, bipolar disorder, and major depression. Therefore, nurses, acting as educators and counsellors, must devise an appropriate intervention strategy, namely genetic counselling, to address these challenges. The use of nursing interventions in the form of genetic counselling can be effectively enhanced through the utilization of information technology via mobile applications. The application was necessary to be developed for implementing genetic counselling interventions for thalassemia patients and caregivers with accessibility capabilities from various locations.

Objective:
The primary objective of this research is to investigate the effects of application-based genetic counselling on the psychosocial well-being of thalassemia patients and caregivers. The specific objectives are to systematically analyze the strength of evidence regarding the effects of genetic counselling on psychosocial outcomes among patients with genetic diseases, to develop a mobile application that offers genetic counselling services to individuals seeking information and support related to thalassemia, to assess the usability of the Cybergen mobile application in effectively and efficiently delivering genetic counselling services to the target users, and to evaluate the impact of application-based genetic counselling on the quality of life, satisfaction, depression, and anxiety levels of thalassemia patients and caregivers.

Methodology:
This research utilized four designs according to its stages, namely meta-analysis and systematic review, research and development (R&D), usability study, and randomized controlled trial. In the stage of meta-analysis and systematic review, a comprehensive search was conducted from January 1st, 2011 to March 20th, 2021 across seven electronic databases including PubMed, Willey, ScienceDirect, CINAHL, JSTOR, Google Scholar, and Research Gate. Randomized Controlled Trials were included and independently reviewed by two investigators, who assessed them for methodological quality using the Cochrane Risk of Bias Tool. Data analysis was carried out using the Review Manager Software.

During the R&D stage, researchers established the Framework for Application of Systems Technology (FAST) method, which consists of six stages: preliminary investigation, problem analysis, requirements analysis, decision analysis, design and construction, and testing. The research and development group includes clinical nurses, nurse educators, IT experts, thalassemia patients, and caregivers to ensure the feasibility and usability of genetic counselling intervention and integration through the Android-based application.

The usability study was designed descriptively and quantitatively using a cross-sectional survey method. The survey was conducted in November 2021 at the General Hospital of Ciamis District. Convenience sampling was used for participant selection including thirty nurses and thalassemia patients or caregivers .The System Usability Scale (SUS) was used as the instrument for data collection. The collected data was analysed using SPSS software version 21, applying calculation formulas for usability evaluation score.

A randomized controlled trial was conducted with 80 patients, divided randomly between the intervention and control groups. Additionally, 192 caregivers were included, with an equal distribution of 96 in the two groups. The intervention group received application-based genetic counselling, while the control received standard routine care. Assessments of quality of life, satisfaction, depression, and anxiety were conducted at baseline (T0), one-month post-intervention (T1), and three months post-intervention (T2). Furthermore, data analysis was performed using the Generalized Estimation Equation Model (GEE) approach in SPSS version 25.0.

Results:
Eight studies with 1,157 participants were analysed to assess the effects of genetic counselling on psychosocial outcomes. The intervention group had a significant genetic counselling effect on patient satisfaction level (P = 0.02; SMD = 0.50 [0.07-0.94]; 95% CI; I2 = 70%). There is no evidence effects for quality of life (P = 0.64; SMD = 0.07 [-0.22, 0.36]; 95% CI; I2 = 0%) , distress (P = 0.64; SMD = -0.20 [-1.03, 0.64]; 95% CI; I2 = 87%) and worry (P = 0.73; SMD = 0.03 [-0.12-0.18]; 95% CI; I2 = 3%). In addition, two studies reported the effect of the intervention on anxiety levels as described by a narrative review. However, the study showed that the anxiety levels of respondents who received the genetic counselling intervention were lower (51.8 ± 11) compared to the control group (59.5 ± 10.4).

The R&D stage has produced an Android-based application product for implementing genetic counselling for thalassemia patients and caregivers, named Cybergen. This application features three main menus integrating literacy, social support, and live consultation. The application has been tested on Android version 1.1 and is available for free download on the Google Play Store. To facilitate users, the application includes a manual guide and videos accessible through Youtube. Overall, the application functions well in accordance with its goals and functions.

The results of the usability test on Cybergen stated that the group of nurse participants showed a mean value of 82.17 and a standard deviation of 7.649. Meanwhile, the group of thalassemia patients and caregivers showed a mean value of 81.75 and a standard deviation of 8.386. Both groups of participants have mean scores that almost overlap for each question. Identical mean scores were observed for Q3 (3.23), Q4 (1.77), and Q9 (2.57). All mean scores for favourable questions are above the median (> 2.5). On the other hand, all mean scores for unfavourable questions are below the median (< 2.5).

Additionally, in RCT stage showed that application-based genetic counselling had significant effects on various aspects of the well-being of thalassemia patients and caregivers. These effects include improvements in quality of life, patient satisfaction, reduction in depression, and alleviation of anxiety (p < 0.05).

Conclusions:
The results of the meta-analysis and systematic review indicate that genetic counselling may effectively improve patient satisfaction. Randomized controlled trial results demonstrated a significant effect in improving psychosocial well-being (quality of life, satisfaction, depression, and anxiety) among thalassemia patients and caregivers. This result confirms the advantages of app-based genetic counselling, provides further evidence for the integration of genetic counselling interventions, and raises the level of awareness of genetic counselling among Mediterranean patients and their caregivers.