Unveiling the stigma of genetic discrimination
12 June 2024

Genetic discrimination involves the unjust treatment of individuals due to their genetic characteristics, which can result in different types of discrimination, from job denial to insurance coverage refusal based on perceived risks associated with certain genetic traits. This discrimination occurs even if individuals are genetically predisposed to a disease they may never develop, regardless of symptoms or diagnoses. Indeed, targeting the genetic status of asymptomatic individuals without confirmed diagnoses is the core of genetic discrimination, because any decision is taken based on genetic information rather than observable symptoms or verified diagnoses, unfairly judging individuals based on potential future risks indicated by their genetic data [1].

For example, insurers sometimes consider genetic information to determine premium rates, aiming for "actuarial fairness” and they may limit coverage for individuals at high genetic risk of certain conditions. The obtained results, regardless of accuracy, can impact insurance coverage and employment decisions. Events of genetic discrimination also include employers denying jobs or promotions based on genetic test results. 

Genetic discrimination hinders access to healthcare and resources, limits opportunities, and negatively affects well-being and denies opportunities based on the indication of future risk through genetic testing [1]. Therefore, concerns arise about the misuse of genetic information for discrimination, especially in insurance coverage and employment, but also in contexts of biometrics and other purposes in law enforcement, immigration, and national defense. 

Without legal safeguards, fear of genetic discrimination has the potential of deterring healthy individuals from genetic testing and research participation, missing interventions that could reduce genetic disorder rates. Surveys show public mistrust and preference for denying access to genetic information by insurers and employers, reflecting concerns about misuse. [1]

Protected by the law 

Cases in which individuals experience adverse treatment due to the observable manifestation of a genetic characteristic are in line with the analytical framework utilized by laws that address discrimination on the basis of disability or health status in a broader sense. [2]

Several countries, notably France, Switzerland, Canada, Australia, and the United Kingdom, have taken steps to implement anti-discrimination protections for genetic information. The approaches adopted by these countries vary, ranging from restrictive legislation to more laissez-faire approaches. These measures aim to safeguard individuals against unfair treatment and discrimination based on their genetic information. [2]

In Europe, there are several laws and regulations that aim to protect individuals from genetic discrimination [4]:

  1. The Charter of Fundamental Rights of the European Union (EU) prohibits discrimination on the grounds of genetic characteristics.

  2. The General Data Protection Regulation (GDPR) protects individuals from the processing of their genetic data, which is classified as a special category of personal data.

  3. The European Convention on Human Rights (ECHR) provides protection against discrimination on the basis of genetic characteristics.

In the United States, there are also several laws that aim to prevent genetic discrimination [4]:

  1. The Genetic Information Nondiscrimination Act (GINA) of 2008 prohibits discrimination in health insurance and employment on the basis of genetic information.

  2. The Americans with Disabilities Act (ADA) of 1990 protects individuals with genetic conditions from discrimination in employment.

  3. The Health Insurance Portability and Accountability Act (HIPAA) of 1996 also includes provisions that protect the privacy and confidentiality of genetic information.

It's worth noting that these laws differ in scope and application, and there may be additional laws and regulations at the state or local level.

GINA, implemented in 2008, provides legal protections against genetic discrimination in employment and health insurance. However, GINA does not protect against genetic discrimination in life, disability, and long-term care insurance. Certain entities, such as small businesses and military healthcare providers, are also exempt from GINA. Therefore, individuals participating in genomic testing research may need to disclose genetic findings for underwriting these types of insurance. [2]

Implications on data sharing and misuses of genetic tests and biobanks

The processing of personal data, especially genetic data, in biobanks has raised significant concerns regarding data breach and the potential for misuse by government entities, insurance companies, or employers, leading to discriminatory practices. These risks encompass fraud, unintended use, and the re-identification of data subjects. Data breach, particularly involving genetic data, is a major concern due to the sensitivity and intimate nature of the information involved. [3]

Biobanks are repositories of biological samples, such as blood or tissue, that are used for research purposes. Genetic data is often shared between researchers and institutions to enable larger and more comprehensive studies. While data sharing and biobanks can lead to important scientific discoveries and advances in personalized medicine, it also raises concerns about privacy and the potential misuse of genetic information. Biobanks must ensure that adequate protections are in place to safeguard the privacy and confidentiality of donors' genetic information.

As technology advances, striking a balance between privacy risks and the public benefit derived from research becomes increasingly complex. The future use of data raises privacy concerns, as individuals may provide their data for specific research purposes but may be unaware of potential unintended uses. It is crucial to consider the ongoing developments in data and technical infrastructures when addressing the risks associated with personal genomic data stored in biobanks.

To mitigate these concerns, improved communication and participant engagement are essential. Providing clear information about data usage and multiple potential uses during the informed consent process is crucial for addressing data protection concerns and enhancing consent models in biobank research. Transparent and comprehensive communication empowers participants and allows them to have greater control over their personal information. Safeguarding privacy and ensuring responsible data handling are fundamental not only for maintaining public trust but also for fostering scientific advancements. Striking a balance between protecting privacy rights and harnessing the potential benefits of genetic research is crucial. By addressing these concerns effectively, responsible data practices can be established and it can create an environment that supports scientific advancements in genomics and personalized medicine.

Written by Floriana Basile

[1] Joly, Y., Dalpe, G. Genetic discrimination still casts a large shadow in 2022. Eur J Hum Genet 30, 1320–1322 (2022)

[2] Bélisle-Pipon, JC., Vayena, E., Green, R.C. et al. Genetic testing, insurance discrimination and medical research: what the United States can learn from peer countries. Nat Med 25, 1198–1204 (2019)

[3] Akyüz, K., Chassang, G., Goisauf, M. et al. Biobanking and risk assessment: a comprehensive typology of risks for an adaptive risk governance. Life Sci Soc Policy 17, 10 (2021).

[4] de Paor, Aisling. “Genetic Discrimination: A Case for a European Legislative Response?” European Journal of Health Law, vol. 24, no. 2, (2017)

[5] Wauters, A., Van Hoyweghen, I. Global trends on fears and concerns of genetic discrimination: a systematic literature review. J Hum Genet 61, 275–282 (2016).

Otlowski, M. Exploring the concept of genetic discrimination. J. Bioethical Inquiry 2, 165–176 (2005)

[6] de Paor, Aisling. “Genetic Discrimination: A Case for a European Legislative Response?” European Journal of Health Law, vol. 24, no. 2, 2017, pp. 135–59. JSTOR

[7] Rothstein MA, Anderlik MR. What is genetic discrimination, and when and how can it be prevented?. Genet Med. 2001;3(5):354-358