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

Area of Science:

• Medical Genetics
• Public Health
• Social Sciences

Background:

• Rare diseases (RDs) affect 1 in 10 people globally, with 71.9% having genetic origins.
• Living with a rare genetic disease presents unique challenges, including social and psychological impacts on families.
• Stigma is a pervasive issue for people with rare diseases (PLWRDs), influencing their entire healthcare journey.

Purpose of the Study:

• To review existing literature on the stigma associated with genetic testing for rare diseases.
• To explore the challenges and potential interventions related to stigma in rare disease genetic testing.
• To identify gaps in research, particularly concerning low- and middle-income countries (LMICs).

Main Methods:

• A literature search was conducted on PubMed and Embase databases.
• Articles published between January 2013 and February 2023 focusing on stigma and rare diseases were identified.
• The review focused on stigma in the context of rare disease genetic testing.

Main Results:

• There is a limited body of research specifically investigating the dynamics of stigma and rare disease genetic testing.
• The implications of stigma for patient outcomes in LMICs and potential interventions remain under-researched.
• Stigma adversely impacts the quality of life for patients with rare diseases.

Conclusions:

• Further research is crucial to understand and address the multifaceted impact of stigma on individuals undergoing genetic testing for rare diseases.
• Developing targeted interventions is necessary to mitigate the negative effects of stigma, especially in resource-limited settings.
• Addressing stigma is essential for improving the well-being and healthcare experiences of people with rare diseases and their families.