In the outskirts of Puducherry, as well as several other parts of rural India, people with disabilities (PwD) are viewed through an unforgiving lens: social outcasts who carry the “Curse of God”. There have been countless stories of communities isolating and shunning young children with disabilities, due to a fear of the associated stigma, misconceptions and a lack of understanding. Disabilities at birth are often attributed to a wide range of myths including supernatural forces, punishments for past sins and religious curses. In such situations, blame is often placed on the mother of the child.  

In addition to the immense cultural stigma, the Indian rural infrastructure is not sufficiently equipped to support the needs of PwDs. A lack of healthcare services including genetic testing and counseling makes it extremely difficult for families of PwDs to access relevant information about genetic disorders, risk factors, disability management and appropriate care procedures. The high cost of these healthcare services imposes additional financial constraints. There is also a dire lack of awareness and education. A limited, incomplete or inaccurate understanding of genetics and the way that genes work, can prevent PwDs and their families from making informed decisions about their personal health. 

Addressing barriers which are so deeply ingrained into societal culture will require a multifaceted approach that includes increasing accessibility to healthcare, education and resources.

The Need for Genetic Literacy

Genetic literacy or genetic awareness, can be defined as an individual’s knowledge of fundamental genetic concepts such as the principles of inheritance, gene function, and their effect on health and illness. 

Genetic literacy plays a significant role in allowing individuals to make informed decisions pertaining to their genetic histories and health. It also facilitates greater understanding which can potentially diminish stigmatization and discrimination against PwDs with genetic disorders. In a broader context, genetic literacy is essential for the general public to engage in informed discourse concerning the implications of genetic research, which include ethical considerations, legal regulations, and social matters such as genetic discrimination and privacy concerns. 

This awareness becomes even more critical within the disability community. The benefits of genetic awareness for PwDs include, but are not limited to:

1. Early diagnosis: Genetic testing can help diagnose genetic disorders that cause disability.  Early diagnosis can allow PwDs to access early intervention services and treatments, which improve outcomes and quality of life for individuals with disabilities.
2. Personalized treatment: Genetic information can help healthcare providers tailor treatment plans to the PwD’s specific needs and genetic makeup, leading to more effective treatments and better outcomes.
3. Informed Decision Making: Genetic counseling can provide information to PwDs and their families about the likelihood of passing on a genetic condition to their children. They also enable families to understand how to care for and support children with disabilities at an earlier age, and spread awareness about consanguineous marriages.
4. Research: Advances in genetics have led to the development of new treatments for genetic disorders and an increased understanding of the underlying causes of disability. This research can lead to improved care and interventions for genetic disorders.
5. Advocacy and support: Genetic awareness can lead to increased advocacy and support for individuals with disabilities, as well as greater understanding and acceptance from society as a whole.

Overall, genetic awareness in the disability sector can help individuals with disabilities and their families make informed decisions about their health and future, and can lead to better outcomes and increased support for individuals with disabilities.

Strategies for Enhancing Genetic Awareness 

A four-pronged approach to enhancing genetic awareness and literacy for PwDs in rural India is described below.

1) Increasing Access to Healthcare:

Development of community centric healthcare models can play a pivotal role in improving accessibility to healthcare resources. Mobile service units provide an efficient mode of reaching remote areas. In particular, mobile genetic counseling units equipped with a genetic counselor and special educator can be utilized to provide counseling and testing services for rural communities. Telemedicine services provide a sustainable alternative by allowing remote consultation and counseling for parents of PwDs. In addition, non-profit partnerships with local clinics and healthcare providers can improve their access to funding and trained personnel, allowing them to cater to communities in need.

2) Providing Education:

Genetic education and awareness campaigns can take a variety of forms, including workshops, seminars, and public information campaigns. Within a rural landscape, non-profit organizations can make significant impact by targeting local Panchayat bodies. Disability awareness discussions with local body heads, accompanied by the distribution of genetic awareness manuals in the local language can play a significant role in normalizing disability and paving the way for acceptance. These workshops should cover the basics of genetics, disability sensitization, the potential benefits of genetic counseling services, and how to access genetic counseling services. The primary purpose of these workshops should be to ensure that individuals understand the cause of disabilities, and understand how to access early intervention and supporting services for PwDs in their families. These workshops can be additionally organized in regularly held village meetings, workplaces with PwDs, and rural schools. Not only will this increase genetic awareness, but it will help mitigate cultural myths and stigmas which are in place.

3) Training Local Healthcare Providers:

Engaging in capacity building by providing training and resources to healthcare providers in rural areas can help improve genetic awareness. This can include training on how to interpret genetic test results, how to communicate this information to patients and families, and how to provide basic care for individuals with genetic disorders. Ensuring that these providers possess proficient genetic literacy can allow them to subsequently educate their rural community. In addition, they should be trained to provide referrals to PwDs who come into their clinics to support resources and organizations.

4) Subsidizing the Cost of Genetic Counseling: 

Non-profit partnerships with healthcare facilities can increase funding and philanthropic support, allowing for subsidized genetic testing and counseling services. This can combat the financial burden of obtaining these services, and make it more accessible for individuals in the community. Non-profit fundraising and philanthropic endeavors supported by government subsidies can facilitate this as well.

By implementing this four-pronged approach, it is possible to enhance genetic awareness and promote better health outcomes for individuals and families. This approach enables us to work towards a more genetically literate society that is better equipped to address the complex issues surrounding genetics, disabilities and health.

Sources

1. National Human Genome Research Institute. “What Are the Benefits of Genetic Testing?” Genome.gov, 10 Feb. 2021, https://www.genome.gov/health/Genetic-Testing/Benefits-of-Genetic-Testing.
2. National Organization for Rare Disorders. “Genetic Testing and Counseling for People with Disabilities.” NORD (National Organization for Rare Disorders), 2017, https://rarediseases.org/rare-diseases/genetic-testing-counseling-people-disabilities/
3. National Society of Genetic Counselors. “Who Needs Genetic Counseling?” NSGC (National Society of Genetic Counselors), 2021, https://www.nsgc.org/p/bl/et/blogid=20&blogaid=181.
4. World Health Organization. “Disabilities.” WHO (World Health Organization), 2021, https://www.who.int/health-topics/disability#tab=tab_1.
5. Centers for Disease Control and Prevention. “Genetics and Health.” CDC (Centers for Disease Control and Prevention), 21 Jan. 2021, https://www.cdc.gov/genomics/about/genetic_disorders.htm.