What are the potential ethical implications associated with genetic screening? Photo credit: digitale.de via Unsplash
Genetic testing has transformed healthcare and continues to improve patient outcomes for those affected by disease. Previously, diagnosis was based on evaluating physical traits and basic biomarkers. However, genetic testing is now increasingly used to deliver precise diagnoses, enabling targeted treatments and more effective disease management. By identifying the genetic foundation of a condition, genetic testing paves the way for personalised medicine, allowing treatments to be tailored to an individual’s unique genome. This advancement spares patients from the often lengthy and exhausting diagnostic process, reducing the need for multiple tests and consultations while enabling faster, more informed medical decisions.
genetic testing is now increasingly used to deliver precise diagnoses…
Nevertheless, as genetic testing becomes more widespread, the storage of genetic data presents significant ethical and security challenges, prompting critical questions: Are current storage methods truly capable of safeguarding such sensitive information? If not, what advancements are necessary to strengthen its protection? Given that even heavily encrypted government databases have fallen victim to cyberattacks, does this suggest that breaches of genetic data are inevitable? And if compromised, what sensitive details could be exposed? Before examining these risks, we must first explore the ethical dilemmas that persist even when genetic testing and data management adhere to the highest security standards.
Considerations in responsible genetic testing
When a patient in the United Kingdom is suspected of having a genetic disorder, testing is recommended only after considering four key ethical principles: autonomy, beneficence, non-maleficence, and justice. Autonomy ensures that patients give informed consent and fully understand the purpose, benefits, and risks of genetic testing while also maintaining control over which results are disclosed, including unexpected findings. Beneficence guides clinicians in selecting the most appropriate test—whether a single-gene analysis, a gene panel, or whole-genome sequencing—ensuring that results lead to meaningful interventions, such as targeted therapies or preventative measures that benefit both patients and at-risk relatives. Non-maleficence requires medical actions to avoid harm, with clinicians mitigating risks such as psychological distress or unnecessary interventions from ambiguous results by providing clear information and genetic counselling. They also avoid excessive testing that might reveal incidental findings of uncertain significance. Justice dictates that genetic testing should be accessible to all, regardless of socioeconomic status, ethnicity, or location, and that follow-up care, including additional testing, counselling, or treatment, must be distributed equitably.
When a patient in the United Kingdom is suspected of having a genetic disorder, testing is recommended only after considering four key ethical principles.
Once these ethical principles have been addressed, genetic testing can be carried out. Variants identified through testing are classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines into five categories: pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, and benign.
Nevertheless, detecting a VUS presents a unique challenge as it signifies a genetic variant with an uncertain role in disease development. As a result, patients may be left without a definitive diagnosis or clear treatment options, leading to uncertainty about their prognosis. This lack of clarity can also cause psychological distress as patients await further research that may reclassify the variant over time.
While a VUS already presents challenges for both researchers and patients, incidental findings introduce an additional layer of ethical complexity. Consider a patient undergoing genetic testing for a suspected neurological disorder. During a whole genome scan aimed at identifying disease-causing variants, clinicians unexpectedly detect a BRCA1 variant, which significantly increases the risk of breast and ovarian cancer. While informing the patient about the variant could support proactive cancer prevention, it is not directly relevant to the neurological conditions being investigated. This presents a significant ethical dilemma: Should clinicians disclose potentially life-changing information beyond the original scope of testing, or would this risk causing unnecessary anxiety and ethical complications?
Should clinicians disclose potentially life-changing information beyond the original scope of testing, or would this risk causing unnecessary anxiety and ethical complications?
From an ethical standpoint, autonomy dictates that patients have the right to access all findings that could impact their health. However, non-maleficence warns against causing unnecessary psychological distress, particularly when the information may lead to drastic medical decisions, such as prophylactic surgery (preventive surgery to reduce cancer risk). Balancing these principles is crucial. To address this, the UK Genomic Medicine Service (GMS) follows a structured approach: only medically actionable conditions are disclosed, and only if the patient has provided consent. This policy helps ensure that incidental findings are managed responsibly, safeguarding both patient autonomy and well-being.
If the patient is informed of the BRCA1 variant, the implications extend beyond their own health to their family members as well. Since BRCA1 variants follow a dominant inheritance pattern, a single altered copy of the gene significantly increases cancer risk and has a 50% chance of being passed on to each offspring. This discovery carries profound consequences for the patient’s medical decisions, family planning, and the need for genetic counselling.
Early identification enables relatives to take proactive measures, such as enhanced surveillance, lifestyle modifications, or even prophylactic surgeries, which can substantially reduce their cancer risk. Under the UK’s ‘duty to warn’ principle, healthcare providers and genetic counsellors strongly encourage patients to share critical genetic findings with at-risk relatives. In exceptional cases, if withholding such information could result in serious harm, providers may disclose genetic risks without the patient’s explicit consent.
…healthcare providers and genetic counsellors strongly encourage patients to share critical genetic findings with at-risk relatives.
This approach, however, presents ethical and legal challenges. Sharing genetic information without consent risks breaching patient confidentiality and eroding trust in the healthcare system. Additionally, not all family members may want to know their genetic risks.
Despite these complexities, informing relatives about hereditary cancer risks provides a vital opportunity for early intervention and prevention. By identifying high-risk individuals before symptoms appear, genetic screening empowers families to make informed healthcare decisions and potentially take life-saving actions.
Ethical dilemmas in genetic data breaches
The previous section provided a brief yet crucial overview of the ethical considerations surrounding genetic testing, even within a strictly regulated framework. Nonetheless, as genetic testing becomes more mainstream—driven by the rise of whole genome sequencing and an increasing number of commercial providers—the risks of data misuse and security breaches continue to grow. This risk becomes more pronounced when genetic testing is managed by private companies rather than government bodies. In an environment where regulatory gaps persist, ensuring robust data protection and ethical oversight is more important than ever.
To address concerns about genetic data misuse, laws such as the Genetic Information Privacy Act (GIPA) and the Genetic Information Nondiscrimination Act (GINA) have been enacted. GINA, a US law passed in 2008, prohibits genetic discrimination in health insurance and employment, ensuring that individuals are not denied coverage or job opportunities solely based on their genetic risk factors. In parallel, GIPA, implemented in several US states, regulates the collection, storage, and sharing of genetic data by requiring explicit consent from individuals.
In theory, these legal protections should prevent the misuse of genetic information if it becomes public. Yet, significant gaps remain. For example, GINA does not extend to life, disability, or long-term care insurance. As a result, insurers in these sectors can legally request genetic test results, adjust premiums, or deny coverage. This creates a dilemma: Individuals carrying high-risk variants, such as those in the BRCA1 gene, may face financial penalties or obstacles in securing essential insurance.
GINA does not extend to life, disability, or long-term care insurance.
Adding to these concerns is that genetic data provided to direct-to-consumer companies such as 23andMe is not covered by the US federal Health Insurance Portability and Accountability Act (HIPAA). HIPAA protects personal health records in hospitals and other healthcare settings by strictly regulating how medical providers handle sensitive data. Because 23andMe is not classified as a healthcare provider, it is exempt from HIPAA. Consequently, genetic data submitted to 23andMe does not receive the same legal safeguards as traditional medical records, leaving users more vulnerable to misuse and breaches.
23andMe is not covered by the US federal Health Insurance Portability and Accountability Act (HIPAA).
This vulnerability became starkly apparent in 2023 when 23andMe suffered a massive data breach that compromised 6.9 million user accounts. Hackers accessed sensitive information, including ancestry details, familial connections, and genetic health risk profiles. The attack specifically targeted certain ancestral populations, such as the Ashkenazi Jewish and Chinese populations, raising serious ethical concerns. Misappropriated genetic data can be weaponised for discrimination, privacy violations, and even political or ideological purposes.
Members of the Ashkenazi Jewish community have voiced concerns that exposing their genetic data could lead to unintended consequences for their families. Due to their unique genetic history and population bottlenecks, Ashkenazi individuals have a higher prevalence of inherited genetic conditions. Notably, BRCA1 mutations occur in approximately 1 in 40 Ashkenazi Jews, a rate ten times higher than the general population. This makes genetic screening especially vital for early detection and preventive care within this community. However, such breaches may deter individuals—particularly those from smaller ancestral groups who already face heightened vulnerabilities—from undergoing genetic testing.
Due to their unique genetic history and population bottlenecks, Ashkenazi individuals have a higher prevalence of inherited genetic conditions.
Ethical dilemmas in whole genome data breaches
The 23andMe breach primarily exposed ancestral and familial data—a serious privacy concern on its own. However, the risks become considerably higher when raw genetic data—the genome itself—is compromised. Unlike a stolen credit card number that can be replaced, genetic data is immutable: Once it’s exposed, an individual’s genetic profile remains permanently vulnerable.
Unlike a stolen credit card number that can be replaced, genetic data is immutable: Once it’s exposed, an individual’s genetic profile remains permanently vulnerable.
While genetic information does not guarantee that someone will develop a specific disease or trait, it does reveal probabilities and predispositions. Despite these uncertainties, this predictive power can be exploited in ways that have profound societal consequences. For example:
- Genetic discrimination by insurance companies
Although GINA prohibits discrimination based on genetic information in health insurance, it does not cover life, disability, or long-term care insurance. This means that if an individual has a genetic risk for diseases, such as those associated with the BRCA1 gene, insurers may deny coverage or raise premiums. A breach of genetic data could result in unofficial blacklists where high-risk individuals find themselves unable to access essential coverage even if they never develop the disease.
2. Non-paternity revelations and blackmail
Direct-to-consumer genetic testing sometimes reveals misattributed paternity. For example, individuals may discover that their presumed biological father is not their genetic father. If such sensitive information is exposed through a data breach, it could lead to family conflict or even blackmail.
3. Genetic profiling in employment and recruitment
A more ominous, dystopian concern is the potential misuse of genetic information by employers and recruiters to screen candidates based on their genetic predispositions. While such practices are currently illegal, there is growing apprehension that, in the future, companies could favour individuals with genetic markers linked to intelligence, stress resilience, or personality traits—effectively engineering their workforce based on DNA. Research suggests that genetic factors influence risk-taking behaviour, leadership potential, and mental health resilience. If genetic data were to become widely accessible, employers could exploit it to filter out applicants who have a higher predisposition to certain diseases or lack “desirable” traits. Such a reality would not only reinforce genetic discrimination but also threaten fundamental principles of fairness, diversity, and equal opportunity in the workplace.
A single data breach may, therefore, compromise not just one person but an entire lineage.
Unlike traditional personal data, genetic information extends beyond the individual because it affects family members, descendants, and entire populations. A single data breach may, therefore, compromise not just one person but an entire lineage.
To prevent genetic discrimination and protect individuals from exploitation, stronger legal protections must be implemented. Without strict enforcement, tighter regulations, and robust security protocols, breaches could reshape fundamental aspects of society in areas such as insurance, employment, personal privacy, and healthcare access.
Balancing promise and peril
This long list of challenges may make some hesitant to pursue genetic testing. Nonetheless, acknowledging these risks is crucial, not only to refine the genetic testing process but also to ensure that patients fully understand both its potential benefits and limitations before making informed decisions. Strengthening regulations, enforcing ethical safeguards, and enhancing data security are essential steps toward a future where genetic medicine is guided by responsibility, transparency, and public trust.
The future of genetic testing is not defined by innovation alone—it hinges on trust, ethical integrity, and the careful stewardship of genetic information.
