THE REGULATION OF GENETIC COUNSELLING – LEGAL CHALLENGES

This article is written by Nidhi Mishra of 4^th Semester of  LLB ( Hons.) of CMP Degree College Allahabad University, an intern under Legal Vidhiya

ABSTRACT

Genetic counselling is essential for assisting individuals in grasping their genetic risks and making knowledgeable health decisions. Nonetheless, the field faces growing intricate legal issues, particularly concerning privacy, discrimination, and informed consent. This article examines the regulatory environment surrounding genetic counselling, highlighting the evolving legal challenges that occur in practice. It considers the influence of legislation and regulatory agencies in protecting patient rights while enabling genetic counsellors to offer high-quality, impartial, and precise guidance. The article investigates significant legal concerns, such as the safeguarding of genetic information, the risk of genetic discrimination from employers or insurance companies, and the repercussions of genetic testing in contexts like prenatal care, mental health, and personalized medicine. Furthermore, the article evaluates how existing legal frameworks are adjusting to the swift developments in genetic technologies and provides suggestions for enhancing policies to safeguard both patients and practitioners. By tackling these issues, this article aspires to foster a more thorough understanding of how legal regulations can facilitate the ethical practice of genetic counselling within an increasingly complicated healthcare setting.

KEYWORDS

REGULATIONS, GENETIC COUNSELLING, GENES, LEGISLATIONS, HIPAA, GINA.

INTRODUCTION

Genetic counselling is a niche area of healthcare that assists individuals and families in navigating the intricate consequences of genetic information. The procedure includes evaluating genetic risks, interpreting genetic test outcomes, and offering guidance on available options, including preventive strategies, treatment choices, and potential decisions related to family planning. Genetic counselling is especially significant when genetic disorders or inherited diseases are diagnosed or suspected, serving an essential role in helping individuals comprehend the legal, ethical, and medical ramifications of their genetic predispositions. From a legal perspective, genetic counselling exists at the convergence of healthcare law, privacy regulations, and anti-discrimination legislation. Genetic counsellors are responsible for delivering impartial, precise, and confidential advice to patients while ensuring adherence to laws surrounding the usage and distribution of genetic information. This holds particular importance in light of regulations such as the Genetic Information Non-discrimination Act (GINA) in the United States, which forbids discrimination based on genetic data in health insurance and workforce settings.

For instance, if a person undergoes genetic testing for an inherited condition like Huntington’s disease, which has a recognized genetic marker, the outcomes of this examination can significantly affect the individual’s health, family planning, and job situation. A genetic counsellor will guide the person in grasping the implications of the test results, including the probability of developing the condition and possible preventive measures or therapies. The counsellor also ensures that the individual provides informed consent prior to any testing, in line with relevant laws that govern patient rights and confidentiality. Furthermore, genetic counselling adheres to a framework of ethical standards that necessitate counsellors to uphold the autonomy and privacy of their patients. This entails making sure that patients are thoroughly informed about the possible dangers and advantages of genetic testing, along with the risk of sensitive genetic data being misused. A significant legal concern is the safeguarding of genetic information, which falls under sensitive personal data according to privacy regulations such as the Health Insurance Portability and Accountability Act (HIPAA) (JD, 2017) in the U.S. Genetic counsellors are legally required to protect the confidentiality of test results, ensuring that genetic information is shared only with authorized parties, like healthcare professionals or family members, with the patient’s consent.

An illustration of a legal matter in genetic counselling is genetic discrimination. Take for example, a situation where an individual discovers through genetic counselling that they possess a gene associated with an inherited condition that could lead to a chronic illness. If an employer were to use this information to deny the individual a job or insurance coverage, that would be considered genetic discrimination. Under GINA, individuals are shielded from discrimination in employment and health insurance scenarios, and genetic counsellors play an essential role in genetic counselling encompasses intricate legal issues concerning family relationships and the distribution of genetic information. In cases where genetic disorders are prevalent in families, there may be an obligation to inform family members about possible risks. However, this raises dilemmas regarding confidentiality, especially when patients prefer to keep genetic information private from relatives. Legal frameworks typically prioritize patient autonomy but also acknowledge the necessity for familial disclosure, particularly when withholding such information could endanger other family members.

LEGAL CHALLENGES OF GENETIC COUNSELLING

The methods of genetic counselling have been shown to differ both within and between countries. The type of information provided and the way it is communicated have proven to lack standardization, with varying levels of training among genetic counselling providers resulting in discrepancies in practices across nations. For instance, while the Organisation for Economic Co-operation and Development guidelines for quality assurance in molecular genetic testing mandate the acknowledgment of medical genetics as a field that includes a clinical specialty[1], there are European nations where this discipline is still unrecognized, resulting in a shortage of trained physicians in this field[2]. There are also inconsistencies within individual countries. Best practice recommendations for counselling are implemented at major genetics centers, yet not all centers within the same country follow the same procedures. Additionally, manylaboratories lack direct connections to genetic counselling services, even though such services should ideally be integrated with the testing process. In certain countries, local factors can also hinder access to genetic services, such as geographical obstacles, religious beliefs, the structure of health services, the historical context of genetics, or insufficient knowledge of genetics by non-specialists.

In some European nations, genetic testing is governed by legislation, but counselling connected to it is only addressed in a few instances; some aspects concerning counselling, like obtaining consent and ensuring confidentiality, may be covered by broader health care legislation. National professional and ethical guidelines also discuss various aspects of genetic testing, occasionally touching on counselling. Furthermore, it can be anticipated that there are some commonly accepted practices of genetic counselling utilized by professionals in certain countries. All three of these guiding sources – legislation, professional guidelines and commonly used practices – influence the delivery of genetic counselling. Although there is a catalogue of national laws and guidelines on genetic testing, and resources that outline genetic testing methodologies in different countries, they seldom specifically focus on genetic counselling issues. (arora, 2020)

ETHICAL ISSUES IN GENETIC COUNSELLING

The rapid advancements in medical genetics are opening up numerous possibilities for addressing genetic diseases. However, these technological developments frequently present distinct and significant ethical challenges that need to be addressed by genetic service providers, recipients of these services, and society as a whole. Reproductive strategies such as donor artificial insemination, genetic testing, in vitro fertilization, prenatal sex selection, surrogate motherhood, foetal tissue transplantation, and gene therapy have raised important ethical issues. As genetic counsellors convey critical genetic and reproductive information to families at risk and the broader public, they often have a crucial role in shaping the understanding and response to these ethical concerns.

Key ethical principles that guide the attitudes and actions of counsellors include

•  respect for patient autonomy, which entails the patient’s right to receive information and to make their own choices; non-maleficence, defined by Fletcher et al as the obligation to reduce or prevent harm to individuals and families
•  beneficence, which involves taking steps to assist others and avert harm, both physical and psychological
•  justice, which demands equitable distribution of services to those in need.

Additionally moral considerations include veracity, which is the obligation to share information truthfully, and the respect for patient confidentiality. Nondirective counselling, a signature aspect of the genetics field, aligns primarily with the principle of respecting patient autonomy while also encompassing the other ethical principles.

LEGISLATIONS REGARDING GENETIC COUNSELLING

In India genetic counselling generally covered under THE GENETIC INFORMATION NON DISCRIMINATION ACT   ( G  I N A ) that generally protects individuals from discrimination based on genetic information by employers. It is considered under Pre conception and Pre Natal diagnostic methods and particularly tackles the matter of sex selection, indicating that any genetic counselling concerning pre-natal assessments must comply with the provisions set forth in this legislation.

PRE-CONCEPTION AND PRE- NATAL DIAGNOSTIC TECNIQUES ACT ,1994

The legislation was introduced in 1994, revised and effectively put into practice in 2003, and underwent strict amendments in 2011. Daily news coverage reveals that stringent actions are being taken nationwide against radiologists, sonologists, and gynaecologist who violate the law. The effective enforcement of the Act has created a negative perception of its impact. This act depicts that despite its harshness, the Act can be readily followed by adhering to certain obligatory requirements established within it.

The PC-PNDT Act was established on September 20, 1994, with the aim of banning prenatal diagnostic techniques used to ascertain the sex of the foetus, thereby combating female feticide. Essentially, the primary goal was to curb female foeticide. A superficial examination of the Act reveals that it is indeed a stringent measure concerning its implications for radiologists and sonologists. There are no leniencies granted to those who violate the regulations.

Nonetheless, it is quite straightforward to comply with the stipulations of the Act. The essential obligations of the Act include:

– Registration as mandated under Section 18 of the PC-PNDT Act.

– Obtaining written consent from the expectant mother and ensuring the prohibition of divulging the foetus’s sex as outlined in Section 5 of the Act.

– Keeping records as required under Section 29 of the Act.

– Promoting public awareness by displaying a prohibition notice regarding sex determination.

An examination of the fundamental requirements illustrates the ease of compliance with the Act; however, any failure to adhere to the Act, no matter how minor, invites severe consequences for the transgressor. The Act penalizes all violators, whether they are directly involved in sex determination or fail to maintain proper records.

The Act is designed to serve as a deterrent for those who attempt to engage in sex determination practices. The unfortunate drop in the male-to-female sex ratio has led to increased regulatory actions, including the suspension of registrations, initiation of criminal charges, and sealing of ultrasound machines. Furthermore, facing criminal prosecution could result in the suspension or revocation of registration by the State Medical Council. Some remedies are available, such as appealing to the appellate authority and obtaining the release of the machine through legal channels, but these corrective processes can be protracted and can halt an individual’s career.

It is important to note that the most effective precautionary measures involve meticulously maintaining records, accurately completing Form F as required by the Act, and submitting the records to the designated authority within the specified time frame; doing so will alleviate concerns. Although the Act contains certain deficiencies, this does not justify any non-compliance or violation of its provisions. Radiologists sonologists[3], and gynaecologists can make a significant contribution to preventing female foeticide by thus fulfilling the mandatory obligations outlined in the PC-PNDT Act. (bhaktwani, 2022)

The Pre-Conception and Pre-Natal Diagnostic Techniques[4] (PC PNDT) Act, enacted in 1994, was created primarily to prevent the inappropriate use of prenatal diagnostic methods for sex selection and subsequent abortion, specifically to combat female feticide and the gender disparity in India. Over time, the Act has seen multiple amendments aimed at enhancing its provisions and improving its execution. The latest amendment, made in 2020, has introduced noteworthy changes to the legislation, reinforcing its pledge to safeguard the girl child and combat gender discrimination.

The PC PNDT Act governs the application of pre-conception and prenatal diagnostic methods, which encompass ultrasound, amniocentesis, chorionic villus sampling, and various genetic tests capable of determining foetal sex. It prohibits utilizing these methods for the purpose of sex identification or selection before or after conception. The Act seeks to deter sex-selective abortions, thereby addressing the concerning male-to-female child ratio in India, which is skewed by the preference for male offspring.

LATEST AMENDMENTS RELATED TO PC PNDT ACT

Over the years this act has undergone several changes to strengthen its provisions and improve  its implementation. The most recent amendment has been made in 2020 that has introduced significant changes to law strengthening its dedication to safeguard the girl child and combat gender-based discrimination.

Main Aspects of the 2020 Amendment

The 2020 amendment to the PC PNDT Act introduced numerous crucial changes, aimed at reinforcing the enforcement of the Act and bridging existing gaps in its implementation. These amendments signify the government’s renewed dedication to addressing gender-based discrimination and female feticide, ensuring the Act remains pertinent in light of advancing medical technologies.

1. Enhanced Penalties for Offenses

 A major alteration brought about by the 2020 amendment is the escalation of penalties associated with violations of the PC PNDT Act. The amendment established stricter punishments for individuals found guilty of conducting unauthorized sex determination tests. The fine for a first infraction has been raised to a maximum of ₹5 lakh and imprisonment for a duration of up to 3 years. For repeat offenders, the penalties have become more severe, with potential imprisonment for as long as 5 years and a fine of up to ₹10 lakh. These heightened penalties are intended to serve as a stronger deterrent against the misuse of diagnostic techniques for sex selection.

2. Enhanced Regulatory Oversight

The amendment also incorporated more robust regulatory oversight mechanisms for ultrasound clinics and diagnostic facilities. Both central and state governments are now required to establish an oversight system to ensure compliance with the Act. The National and State Boards, which supervise the PC PNDT Act’s implementation, have received greater authority to perform regular inspections and audits of establishments that provide prenatal diagnostic services. These measures are expected to diminish the prevalence of illegal clinics and guarantee that compliant facilities adhere strictly to ethical standards.

3. Greater Emphasis on Public Awareness and Education- The 2020 amendment highlights the necessity for enhanced public awareness and educational efforts to challenge the entrenched societal preference for male children. The government has been tasked with executing awareness initiatives and campaigns to inform the public about the detrimental effects of sex-selective practices and the legal stipulations of the PC PNDT Act. This initiative aims to transform cultural beliefs that sustain gender discrimination and ensure that the general populace comprehends the legal and ethical consequences of sex determination.

4. Introduction of Emerging Technologies and Methods – With the progress in medical technology, innovative approaches for prenatal diagnostics have developed, such as non-invasive prenatal testing (NIPT) and cell-free DNA analysis. The amendment to the Act acknowledges the necessity of regulating these new technologies and incorporating them within its framework. Although these methods are significantly accurate and less invasive compared to traditional techniques, they still have the potential for misuse regarding sex determination. The amendment broadens the Act’s reach to guarantee that these modern diagnostic tools cannot be employed for unlawful purposes.

5. Enhanced Enforcement and Legal Action- In light of the criticisms regarding the inadequate enforcement of the Act, the amendment also features provisions for more stringent enforcement and prosecution of infringers. The government has instituted stricter protocols for the registration and oversight of healthcare professionals and clinics that provide prenatal diagnostic services. Specialized courts have been established to hasten proceedings related to the PC PNDT Act, ensuring that justice is served promptly. This measure aims to tackle the backlog of cases and enhance the legal process for those charged with violating the Act.

LANDMARK JUDGEMENTS

1. In the case of Ravindra Kumar & Ors. vs. State of Haryana (2010), the Punjab and Haryana High Court addressed the unlawful use of ultrasound machines for determining the sex of the fetus and the sale of ultrasound reports to clients interested in sex determination. The petitioners were found guilty of breaching the regulations of the PC PNDT Act by conducting sex determination tests and violating the ethical and legal standards established under the Act. The court stressed the necessity of following the PC PNDT Act’s provisions to combat female feticide and imposed penalties, reinforcing the duty of medical professionals and ultrasound clinics to comply with the law.
2. In the case of State of Maharashtra vs. Dr. Shailesh Sharma (2011), the Bombay High Court considered the accusations against Dr. Shailesh Sharma for carrying out sex determination tests and performing illegal abortions, contravening the provisions of the PC PNDT Act. The petitioner was claimed to have conducted procedures aimed at aborting female foetuses based on their gender. The Bombay High Court upheld the decisions made by lower courts, convicting the doctor and emphasizing the severe penalties for individuals participating in sex determination and sex-selective abortions, in violation of the Act. This case highlighted the legal repercussions for medical professionals engaged in such unlawful practices.
3. In the case of Dr. Asha S. H. vs. Union of India (2014), the Supreme Court of India examined the legality of requiring diagnostic centers to be registered under the PC PNDT Act. Dr. Asha, a healthcare professional, contested the necessity for mandatory registration of ultrasound clinics and adherence to the regulatory framework outlined in the Act. The Supreme Court endorsed the requirements for clinic registration under the PC PNDT Act, highlighting the necessity of monitoring diagnostic centers to avert the misuse of prenatal diagnostic technologies for sex determination. The ruling reaffirmed both the legality of the law and the government’s authority to oversee such centers.
4. In Dr. Nandita P. vs. State of Gujarat (2017), the Gujarat High Court dealt with the case of Dr. Nandita P., who was accused of conducting sex determination tests in contravention of the PC PNDT Act and contested the charges against her. The case brought to light issues concerning the application of the Act and the burden of proof in these situations, necessitating that authorities establish evidence for illegal sex determination practices. The Gujarat High Court underscored the rigorous application of the PC PNDT Act and emphasized the requirement for clear evidence when prosecuting medical professionals under the law. The ruling highlighted the gravity of the offense and the judicial obligation to safeguard the girl child from sex-selective abortions.
5. In the case of State of Uttar Pradesh vs. Dr. Ashok Kumar & Ors. (2019), the Allahabad High Court evaluated the charges against Dr. Ashok Kumar and his associates for running an illegal ultrasound clinic where sex determination tests were conducted. The case focused on the infringement of the PC PNDT Act and involved the illicit use of medical technology for ascertaining the foetus’s sex. The Allahabad High Court found the defendants guilty, providing a strong reminder about the importance of preventing gender-based discrimination through the illegal practice of sex selection. The court reiterated that such actions were not only unlawful but also detrimental to society, particularly in perpetuating gender imbalance.

CONCLUSION

In summary, genetic counselling and the PC PNDT Act are essential instruments in protecting public health, especially regarding genetic risks and gender discrimination. Genetic counselling equips individuals with the knowledge needed to comprehend their genetic risks, make educated healthcare choices, and avert the inheritance of genetic conditions. It is vital in fostering informed consent, respecting patient autonomy, and promoting ethical decision-making. Conversely, the PC PNDT Act  serves as an important legal framework designed to prevent the inappropriate use of prenatal diagnostic technologies for determining sex and the unlawful practice of sex-selective abortions. Amendments made to the Act in 2020 have bolstered its enforcement, heightened penalties, and encompassed new medical technologies, underscoring the government’s dedication to fighting female feticide and gender bias.

The collaboration between genetic counselling and the PC PNDT Act is essential in tackling the ethical, legal, and social dilemmas posed by the advancements in genetic technology. Genetic counsellors need to address these dilemmas while being acutely aware of the legal consequences and the necessity of safeguarding individual rights alongside societal welfare. As both domains progress, it is crucial to persist in strengthening regulatory frameworks, boosting public understanding, and encouraging the ethical practice of genetic counselling to ensure that both men and women are informed while protecting the rights of unborn children.

Ultimately, a well-balanced and properly regulated strategy that integrates genetic counselling with robust enforcement of the PC PNDT Act will create a setting where individuals can make knowledgeable choices, while upholding gender equality and ethical medical standards. This cooperative approach will be critical in shaping a healthier and more just society.

REFERENCES

1. https://pmc.ncbi.nlm.nih.gov/articles/PMC3498638/
2. https://ijtr.nic.in/ebook_pcpndt.pdf
3. https://india.unfpa.org/sites/default/files/pub-pdf/Compilation_and_Analysis_of_Case_Laws_on_Pre_Conception.pdf
4. https://www.ijcmph.com/index.php/ijcmph/article/view/7120
5. https://www.sciencedirect.com/science/article/pii/S2542454818300274
6. https://onlinelibrary.wiley.com/doi/pdf/10.1002/qaj.209
7. ARORA, N. P. T. S. B. S. K. R. D. R., 2020. UNMET NEEDS OF PCPNDT ACT IN THE WOMEN OF THE GENERAL. INTERNATIONAL JOURNAL OF COMMUNITY MEDICINE AND PUBLIC HEALTH.
8. BHAKTWANI, A., 2022. THE PC PNDT ACT IN A NUTSHELL. THIEME INIDAN JOURNAL OF RADIOLOGY AND IMAGING.
9. JD, g. c., 2017. HIPAA AND PROTECTING HEALTH INFORMATION IN THE 21ST CENTURY. 17 JULY.

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[1] OECD: Guidelines for Quality Assurance in Molecular Genetic Testing. OECD: Paris, 2007

[2] Ibarreta D, Bock A, Klein C, Rodriguez-Cerezo E : Towards Quality Assurance and Harmonisation of Genetic Testing Services in the EU. European Commission Joint Research Centre: Seville, 2003.

[3] Act Chapter 1 Section 2(p)

[4] Act Chapter 3, Section 4

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