This article has been written by Sarita Sah pursuing a Startup Generalist & Virtual Assistant Training Program from Skill Arbitrage.
This article has been edited and published by Shashwat Kaushik.
Table of Contents
Introduction
Genetic testing has revolutionised modern medical diagnostics with unrivalled accuracy in the determination and control of genetic pathologies. This ranges from diagnostic measures through advanced techniques like Next Generation Sequencing (NGS) and Polymerase Chain Reaction (PCR), determined for particular allelic variations and pathogenic mutations to bring about early diagnosis of conditions, personalisation of medicine, and risk stratification guided by genotyping. However, integrating genetic testing into clinical practice poses new ethical problems related to genetic privacy, informed consent, and possible psychosocial consequences. In addition, legal challenges dealing with the protection of genetic data and anti-discrimination laws, coupled with sociocultural issues related to stigmatisation and access equity, make the scenario around its implementation complex. The article addresses these subtler dimensions in the Indian context. Specifically, it highlights the need to ensure an ethically sensitive approach for the optimal utility of clinical benefits and societal dividends from genetic testing.
Ethical issues
Informed consent
Ethical duty in informed consent remains as one of the important requirements, especially in a genetic test. The patients are supposed to know the possible implications, risks, and consequences of these tests. Patients hardly understand genetic information because it is complex. Special genetic counseling will be necessary for effective informed consent to explain the impact on the health status of the patient and the future health status of his family. Informed consent procedures are yet to evolve in India, more so in rural, less educated populations requiring extensive education. Further complicated by language barriers and cultural differences, the proper process of obtaining truly informed consent remains far from perfection.
Privacy and confidentiality
As it concerns genetic information, which may be sensitive in nature and hence compromising if there is the potential for discrimination and stigmatisation, great care should be taken to protect privacy and data confidentiality. Some protection is provided in the US by the Health Insurance Portability and Accountability Act but there are gaps. Strong security measures, such as encryption and access controls, must be coordinated. Policies will have to be enacted to grant access to genetic information only to correctly authorised individuals. The 2019 Personal Data Protection Bill is an ambiguously reiterated bill in India that is supposed to deal with the question of privacy and certainly provides for genetic data, which is in dire need of much clearer legislation.
Psychological effects
Genetic testing can be psychologically burdensome and may result in anxiety, depression, or change in self-image. Hence, genetic counselling helps to a great extent in mitigating these effects. It enables the patients to accept the genetic information and helps them balance the benefits against the risk of knowing one’s genetic status. In India, genetic counselling services are few and are normally localised in urban areas; hence, its expansion into rural and semi-urban areas needs attention.
Legal Implications
Legal framework
The genetic test regulation system is divided at a global level, which results in the diverse quality of the respective services and practices. As for the United States, the Food and Drug Administration (FDA) safeguards the trustworthiness and accuracy of genetic tests, even though the Genetic Information Nondiscrimination Act (GINA) liberalises the discrimination on genetic bases but keeps the insurance and employment sectors not fully covered.
India, on the other hand, devised a genetic screening compass, which is controlled by the Indian Council of Medical Research (ICMR). The centre has released perusal guidelines for genetic testing and counseling. Nonetheless, there is no enforcement of these guidelines legally, and hence there are differences in the standards and efficiency of the testing instruments in different centers. The most important laws related are:
- Pre-Conception and Pre-Natal Diagnostic Techniques (Prohibition of Sex Selection) Act, 1994 (PCPNDT Act): This law is a prohibition of prenatal testing that may be the vehicle of sex-selective abortion because of the genetic selection indirectly derived from prenatal testing.
- Full compliance with the DNA Technology (Use and Application) Regulation Bill of 2019: This bill seeks to inject a DNA testing and profiling facility in the national database, which should comply with the accuracy of the ethical use of genetic information.
Unification of genetic testing standards and practices is an urgent requirement for the global health scenario. The OECD’s (Organisation for Economic Co-operation and Development) guidelines in molecular genetics testing for quality assurance and the Council of Europe’s recommendations on genetic testing, among others, are international undertakings that aspire to offer a coherent centre for genetic testing and shield individual rights. Alternatively, the ultimate version of the harmonisation of law is still unfinished.
Discrimination
Genetic discrimination, or treating individuals differently on the basis of their genetic information, is a continuing cause for concern. Much of this discrimination in the US is protected under GINA, in processes relating to employment and health insurance, but not life, disability, or long-term care insurance. These legal frameworks that have been devised need to be more comprehensive in nature, protecting all aspects of insurance and employment globally. No legislation exists in India that safeguards against genetic discrimination, so there is an urgent requirement for legislation for workplace discrimination and discrimination pertaining to insurance.
Intellectual property
The patenting of genetic discoveries is a very emotive issue. While patents provide incentives for research and development, they not only often result in inaccessible genetic tests as a result of their cost but also gene therapies. The Association for Molecular Pathology v Myriad Genetics case was decided in the US Supreme Court; it agreed that naturally occurring genes cannot be patented while synthetic DNA can be. This clearly balances innovation and accessibility. While the Patents Act of 1970 in India and subsequent amendments govern the discovery of genes, there are hostile questions about the degree to which genes are patentable, representing the global concerns about issues of balancing access while rewarding innovation.
Social implications
Access and equity
Social access to genetic testing is unequal; this is powerfully influenced by socioeconomic status, geography, and race. Genetic testing is usually more accessible in high-income countries, where facilities for its practice are available and accommodated into their health systems. For that reason, it highly contributes to health disparities between high- and low-income countries or low- and middle-income countries. The access can be improved by increasing funding for genetic services, implementing genetic testing into public health programs, and training health workers in genetics. In India, costs are too high; it requires knowledge that is not always available; infrastructure is too poor in rural areas. Genetic testing should be available and affordable through public health policy.
Public perception and stigma
Cultural, social, and educational milieus form the backdrop for public perception about genetic testing. Misconceptions and fears concerning genetic information may lead to stigmatisation and discrimination. This should be addressed by public education campaigns and community outreach that convey truthful information about genetic testing. Portrayal in the media should be checked for misinformation and undue expectations. Genetics-related stigmatising myths and beliefs can come from cultural sources in India. Community-based education programs, in conjunction with local leaders, provide education for the dispelling of these issues and allow a better understanding of the public with regard to genetic testing.
Family dynamics
Inherent in genetic information are familial implications, potential causes for tension, guilt, and conflict amongst the members of a family. Genetic counselling should take into consideration the perspective of the family; concerns about genetic findings should be duly addressed. Ethical guidelines need to be such that they help in balancing rights of the individual with familial responsibilities. In India’s common joint family system, culturally sensitive approaches to genetic information dissemination lay emphasis on family-centred counselling so that the impact on relatives can be properly managed.
Discussion
The integration of genetic testing in health care requires a multidisciplinary approach to overcome the ethical, legal, and social implications of its use. Ethicists, legal experts, clinical workers, and policymakers should work harmoniously to help subdue the problems. Policies should be available that protect the individuals and have access, equity, and public understanding. Recommendations presumed to play a vital role are:
- Education and communication strategies on informed consent.
- Improved genetic education programs of HCWs, including policymakers.
- Expanding strategies for notification of carriers.
- Improved data protection regulations and steps to protect genetic data.
- Increase in anti-discriminatory laws to all insurance and employment.
- Community involvement and awareness toward reducing stigma and misconceptions.
- Unbiased access to genetic testing around the world, and in India in particular, to reduce the variance between different parts of the country.
Conclusion
Genetic testing is an essential tool to be used in the context of medical innovation, potentially transformative in the diagnosis and management of genetic conditions. However, extensive application will bring a complex web of ethical, legal, and social implications to be managed most prudently. At a moral level, the requirements are for informed consent, preservation of genetic privacy, and handling the psychological impact of test results. Yet another vital issue regarding this context is safeguarding individuals from genetic discrimination in jobs and insurance, e.g., GINA in the US. Intellectual property rights versus the access of genetic testing technologies is the other debated issue. Currently, social inequalities in access to testing still exist concerning LMICs. These disparities result from the varied dimensions of socioeconomic status, geographical location, and healthcare infrastructure. Significant role in the acceptance and utilisation of genetic services is cultural beliefs and practices; hence, genetic counselling and public education need culturally sensitive delivery. In India, the problems are more compound. Various ethical issues involved include informed consent and maintenance of privacy about genetic information in a heterogeneous population. Many more legal actions are required in India, and being unequipped with a comprehensive law like GINA, can only resolve the problem.
References
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