The ethical implications of genetic testing in neurodegenerative diseases: A systematic review

Abstract

The ethical implications of genetic testing in neurodegenerative diseases: A systematic review Background: Availability of genetic testing in neurodegenerative disorders has developed rapidly. This growing ability is providing specific genetic information to individuals and, in turn, their families, raising ethical concerns. However, family members' perspective is a seldom-studied phenomenon. Aim: The aim of this systematic review was to describe the ethical aspect of genetic testing in neurodegenerative diseases from the perspective of at-risk family members. Method: A systematic review of data was performed in accordance with the PRISMA statement. The data search was conducted using the CINAHL, PubMed and Scopus databases to identify original peer-reviewed studies published between January 2009 and April 2019. A total of 24 articles were selected. The data were analysed using inductive content analysis.Findings: On the basis of the analysis, four central ethical implications were identified: (i) decision-making in genetic testing as a dilemma: balance between autonomy and responsibility, (ii) the individual's right to make a voluntary and informed decision for genetic testing, (iii) conflicting emotions after knowing one's genetic status and (iv) privacy and confidentiality of genetic information: the fear of genetic discrimination and stigma. Conclusions: The findings of this review increase understanding about the central ethical implications of genetic testing in neurodegenerative diseases from the perspective of family members, and identify and underline outstanding needs for further research.

Validation of the “Perceptions Regarding pRE-Symptomatic Alzheimer’s Disease Screening” (PRE-ADS) Questionnaire in the German Population: Attitudes, Motivations, and Barriers to Pre-Symptomatic Dementia Screening

“…But once a person is labeled with a pre-disease, he or she will remain so for life [ 56 ]. In the case of genetic testing, this also has implications for the family since genes, strictly speaking, affect not only the person tested but the entire family [ 57 ].…”

Drama as a Powerful Tool to Enrich Socio-scientific Argumentation

“…2U18, for example, noted that the emotional aspect should be considered in genetic testing processes (line 10). It is important that s/he has mentioned this as Nurmi et al ( 2021 ) maintain that emotional guidance often receives little attention. Public genetic literacy (lines 24 and 28) and gradual encouragement (line 30) are other examples of essential points of genetic testing that were referred to in the discussion between these participants.…”

“…It should be pointed out that this sequence is not a panacea to solve all obstacles to success in preparing students to make critical decisions about genetic testing. It is just one research-based contribution among many others that will be required to equip students with effective and pragmatic tools that enable them to deal critically with the current and complex tapestry of concerns of genetic testing, such as the introduction of genomic screening to detect a predisposition for cancer (Wedderburn & McVeigh, 2021 ), transparency, consent, and trust in the use of customers’ data by online genetic testing companies (Raz et al, 2020 ), the use of pre-implantation genetic testing for sex selection (Bracewell-Milnes et al, 2021 ), the balance between autonomy and responsibility to decide whether to undergo genetic testing (Nurmi et al, 2021 ; Strohmaier et al, 2019 ), the social influence of genetic testing decision-making (Zimmermann et al, 2021 ), conflicting emotions after knowing a person’s genetic status (Nurmi et al, 2021 ), and non-health-related uses of DTC genetic testing (e.g. investigative genetic genealogy) (Majumder et al, 2021 ).…”

“…At the heart of our drama-based TLS was the controversial question, “Should the use of genetic tests among people be encouraged?” This was chosen for a variety of reasons. These include (1) this question is widely recognized as a fundamental one within the current genetic testing controversy (Forbes Shepherd et al, 2021 ; Wedderburn & McVeigh, 2021 ); (2) the WHO ( 2011 ) insists that critical reflection on this question is indispensable to foster awareness of the importance of respecting the voluntary nature of genetic testing; (3) there are no clear-cut answers to this controversial question, but rather arguments in favor and against genetic testing (Majumder et al, 2021 ; Sharpe & Carter, 2006 ); and (4) Botkin et al ( 2015 ), Giarelli ( 2001 ), Nurmi et al ( 2021 ), and Strohmaier et al ( 2019 ) observe that a desirable decision-making process about this question requires the consideration of diverse aspects (e.g. economic, ethical, social) related to genetic testing.…”