Stigma associated with genetic testing for rare diseases-causes and recommendations

Gareth Baynam; Roy Gomez; Ritu Jain

doi:10.3389/fgene.2024.1335768

Stigma associated with genetic testing for rare diseases-causes and recommendations

Front Genet. 2024 Apr 4:15:1335768. doi: 10.3389/fgene.2024.1335768. eCollection 2024.

Authors

Gareth Baynam^{1

2

3}, Roy Gomez⁴, Ritu Jain^{5

6}

Affiliations

¹ Undiagnosed Diseases Program -WA, Genetic Services of WA, King Edward Memorial Hospital, Subiaco, WA, Australia.
² Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, WA, Australia.
³ Rare Care Centre, Perth Children's Hospital, Subiaco, WA, Australia.
⁴ Emerging Asia Medical Lead-Specialty Care, Pfizer, Singapore, Singapore.
⁵ Nanyang Technological University, Singapore, Singapore.
⁶ DEBRA International, Asia Pacific Alliance of Rare Disease Organizations, Singapore, Singapore.

Abstract

Rare disease (RD) is a term used to describe numerous, heterogeneous diseases that are geographically disparate. Approximately 400 million people worldwide live with an RD equating to roughly 1 in 10 people, with 71.9% of RDs having a genetic origin. RDs present a distinctive set of challenges to people living with rare diseases (PLWRDs), their families, healthcare professionals (HCPs), healthcare system, and societies at large. The possibility of inheriting a genetic disease has a substantial social and psychological impact on affected families. In addition to other concerns, PLWRDs and their families may feel stigmatized, experience guilt, feel blamed, and stress about passing the disease to future generations. Stigma can affect all stages of the journey of PLWRDs and their families, from pre-diagnosis to treatment access, care and support, and compliance. It adversely impacts the quality of life of RD patients. To better explore the impact of stigma associated with genetic testing for RDs, we conducted a literature search on PubMed and Embase databases to identify articles published on stigma and RDs from January 2013 to February 2023. There is a dearth of literature investigating the dynamics of stigma and RD genetic testing. The authors observed that the research into the implications of stigma for patient outcomes in low- and middle-income countries (LMICs) and potential interventions is limited. Herein, the authors present a review of published literature on stigma with a focus on RD genetic testing, the associated challenges, and possible ways to address these.

Keywords: diagnosis; genetic screening; genetic testing; orphan diseases; rare diseases; stigma.

Publication types

Review

Grants and funding

The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. This study received funding from Pfizer for the payment of article processing fees. The funder was not involved in the study design, collection, analysis, interpretation of data, the writing of this article, or the decision to submit it for publication.