Patient Knowledge and Attitudes towards Genetic Testing in Parkinson’s Disease Subjects with Deep Brain Stimulation

Abstract

Objectives. As genetic testing is becoming more widely commercially available for Parkinson’s disease (PD) and may have implications regarding clinical outcomes for deep brain stimulation (DBS) and other therapies, we aimed to determine patient knowledge and attitudes towards genetic testing. Methods. A sample of 88 PD subjects with bilateral STN-DBS completed a Genetic Attitudes Questionnaire (GAQ). Knowledge and attitudes towards genetic testing were assessed. Results. The mean percent of correct responses regarding genetic testing knowledge was 58.5%. Nearly 90% of subjects were unfamiliar with Genetic Information Nondiscrimination Act (GINA). The most important reasons subjects cited in deciding whether to undergo genetic testing included (1) to be a candidate for clinical trials if positive, (2) to learn that they do not carry a mutation, and (3) because a healthcare provider had recommended it. Individuals who influence decision-making include spouses and children. About 88% of subjects would share results with spouses, children, and siblings. Discussion. These results reveal that there is a major knowledge gap regarding genetic testing in PD and the implications of testing results on treatment, work, insurance, and privacy. Also, subjects would mainly seek genetic testing to participate in clinical trials, with spouses and children being the key stakeholders in decision-making.

Factors Influencing Genetic Screening Enrollment among a Diverse, Community-Ascertained Cohort

“…At the end of the study FAQ, invitees could respond to an optional online survey (T0) and request an at-home DNA kit for sample collection. People who completed the T0 survey were asked about personal and family history of cancer and heart disease, as well as factors influencing their decision to receive or not receive genetic screening using a scale adapted from Fraint et al [ 18 ]. For a series of 16 statements ( Table 1 ), respondents were asked to indicate how important the given statement was in their decision-making using a Likert scale (Not Important At All, Somewhat Important, Very Important, Not Applicable).…”

Genetic Testing in Parkinson's Disease

“…In North America, multiple studies have documented a strong interest in genetic testing and genetic counseling by PwP, their relatives, and caregivers 6,7,45 . Among PwP, knowledge of PD genetics is highly variable, with a mean percent of correct responses ranging from 37% 12 to 73% depending on the study and population examined 9,11‐13,55‐59 . Although cultural, religious, and educational factors impact patient experiences and attitudes regarding genetic testing, the lack of preventive and disease‐modifying therapies also likely impact decision making.…”

“… 6 , 7 , 45 Among PwP, knowledge of PD genetics is highly variable, with a mean percent of correct responses ranging from 37% 12 to 73% depending on the study and population examined. 9 , 11 , 12 , 13 , 55 , 56 , 57 , 58 , 59 Although cultural, religious, and educational factors impact patient experiences and attitudes regarding genetic testing, the lack of preventive and disease‐modifying therapies also likely impact decision making. Data are lacking regarding patient and clinician attitudes toward and knowledge of genetic testing for PD from lower‐income countries.…”

Impact of gene mutation in the development of Parkinson's disease

“…Autosomal dominant transformation associated with mutations in SNCA, UCHL1, GIGYF2 and LRRK2 genes and PRKN, DJ-1, PINK1, ATP13A2, PLA2G6, FBXO7 result in autosomal recessive Parkinsonism (Table 1). 28 Approximately, 27% of patients with early-onset PD (EOPD) bear a transformation in one of three genes: LRRK2, Parkin, and glucocerebrosidase (GBA) 29 . Researchers have been identified a few susceptibility genes (A hereditary modification that expands a person's powerlessness or inclination to a specific disease or disorder) for PD.…”