Nondisease genetic testing: reporting of muscle SNPs shows effects on self-concept and health orientation scales

Abstract

The purpose of this study was to assess the impact of genetic self-knowledge (nondisease genotype information) on individual self-concept and Health Orientation Scale (HOS). Adult volunteers (n ¼ 257) were recruited from an ongoing genetic association study identifying muscle quantitative trait loci (QTLs). Participants completed psychosocial assessments before and after 12 weeks of resistance training of the nondominant arm. At study exit, a genetic counselor informed participants of genetic test results on three to four genes that have an association with muscle-related traits, and counseled subjects on the potential significance of these findings. The second psychosocial assessment was performed immediately following this counseling session. The Tennessee Self-Concept Scale v.2 (TSCS:2) and the HOS showed female subjects to have a significantly greater positive change between first and second assessments, relative to male subjects. Most self-concept subscales improved significantly, when 'neutral' genotypes (no anticipated beneficial or deleterious impact) were reported, compared to positive genotypes. TSCS:2 subscales showing improvement included: total (P ¼ 0.013); physical (P ¼ 0.004); satisfaction (P ¼ 0.019); and behavioral (P ¼ 0.047). HOS subscales showing improvement included health image concern (P ¼ 0.006); and health expectations (P ¼ 0.047). In conclusion, these results suggest that genetic selfknowledge affects self-concept, consistent with the 'attribution' theory. Individuals who received neutral genetic information attributed positive changes from the exercise program to their own abilities, while those who received positive information were more likely to attribute positive changes to their genetics. This study is limited by the ability to determine the direction of the impact of nondisease genetic information presented to participants. 1 -6 Such companies claim to provide genetic self-knowledge that will enable the individual to optimize their lifestyle. The validity of such claims are questionable, but the prevalence of these companies attests to the probability that testing for genes not directly related to disease will become increasingly common, if not commonplace. It is not clear how such genetic self-knowledge might affect self-concept and health perception especially when the testing is for genetic traits not related to disease. Our current understanding of the impact of genetic selfknowledge on self-concept and health perception stems from testing for genetic disease, specifically presymptomatic diagnosis (eg Huntington's disease (HD)), and carrier status for recessive conditions (Cystic fibrosis, Tay Sachs). Psychological changes in self-concept have been observed in response to carrier testing for Tay Sachs in high school students.7 Tay Sachs carriers in another study, had a significantly less optimistic view of their own future health (Po0.01) than noncarriers or the random control group. 8In a study of carriers for sickle cell trait, there was a belief by noncarriers, that carrie...

Effect of Pre‐test Genetic Counseling for Deaf Adults on Knowledge of Genetic Testing

“…While baseline genetics knowledge was shown to be high in this study population, deaf and hard-of-hearing individuals are likely to benefit from genetic counseling services as assessed by improvements in genetics knowledge and understanding. In a variety of populations, access to genetic counseling has been shown to improve medical management (Hadley et al 2004; Kauff et al 2008; Rebbeck et al 2004), impact health outcomes and psychological well being (Gordon et al 2005; Sankar et al 2006), improve use of appropriate healthcare resources (Green et al 2004), decrease psychological distress (Cabrera et al 2010), and enhance self-knowledge (Gordon et al 2005). Studies on many of these factors within the deaf population are noticeably lacking, but it is likely that culturally and linguistically appropriate genetic counseling will have similar benefits within the deaf population and contribute to a reduction in health disparities for this group.…”

“…In some instances, identifying a hereditary reason that one is deaf may be beneficial for medical management in situations where the genetic etiology may result in medical complications if unrecognized [e.g., cardiac manifestations in Jervell and Lange-Nielsen Syndrome (Schwartz et al 2006)]. Furthermore, enhanced self-knowledge from genetic information for non-disease traits has been shown to impact health outcomes (Gordon et al 2005) and psychological well being (Gordon et al 2005; Sankar et al 2006). Because deafness is considered a non-medical trait by many individuals, enhancing deaf individuals’ knowledge about why they are deaf may have a variety of beneficial outcomes including improved health and well-being.…”

Psychological impact of a genetic diagnosis on hearing impairment—An exploratory study

“…Research by Gordon et al demonstrated that patients who were counselled on a neutral genotype (no mutations with beneficial or adverse effects) showed an increase in health perception and self‐concept, which was designated increased psychological well‐being. This outcome was attributed to a probable increase in personal control …”

“…This outcome was attributed to a probable increase in personal control. 9 Based on the study of Gordon et al, Palmer et al 5 hypothesised that hearing-impaired individuals who received a genetic diagnosis for their hearing impairment would display an increase in psychological well-being compared to those without a genetic diagnosis. The authors tested this hypothesis in adults with early-onset hearing impairment who were tested for mutations in GJB2/GJB6 (DFNB1).…”

Deaf Genetic Testing and Psychological Well‐Being in Deaf Adults

“…In the assessment of genetic testing for non-medical traits in adults, perceived personal control – the sense that one has behavioral, cognitive, and decisional control over aspects of their life (Berkenstadt, Shiloh, Barkai, Katznelson, & Goldman, 1999) -- may also be an important psychological outcome. In a study of muscle-related non-medical traits, individuals who received neutral genotypes for these traits (analogous to a “negative” result) experienced improved psychological well-being, measured by self-concept and health perception, compared to individuals who received positive genotype information (Gordon et al, 2005). Although this result seems counter-intuitive, the authors hypothesized that those with neutral genotypes experienced positive well-being because they felt a greater sense of personal control over the ability to change their bodies through exercise than individuals with positive genotypes in which “genetics” held more control over their bodies.…”