Genomics offers unprecedented opportunities to improve our health. Understanding how our genes and their small variations influence disease risk improves diagnosis, treatment and prevention, and enables more personalised medicine. At the same time, genomic information can create new kinds of vulnerability. Genetic test results can reveal inherent susceptibilities to disease, raise privacy concerns — particularly for rare conditions — or provide information with uncertain value when there’s no effective or affordable treatment. Genomic information can also be misused, for example, by employers or insurers, potentially leading to stigma or discrimination. For these reasons, it’s essential to put safeguards and trustworthy frameworks in place to help people manage vulnerabilities and prevent misuse.
Genetic testing – where individuals get some parts of their genome sequenced and analysed – is becoming increasingly common. People may seek testing due to a family history of inherited disease, for reproductive planning, or out of curiosity through direct-to-consumer tests. Genetic results can vary widely in scope and severity, but they often highlight an important reality: everyone has some predisposition to illness.
While we all know that illness is possible, this awareness can become much more concrete when a genetic test suggests an increased risk of conditions such as cancer, diabetes or Alzheimer’s disease. In this way, genomics can confront people with their vulnerability as human beings. For deeper insight into how people experience and make sense of vulnerabilities in genomics, see this qualitative study on public perspectives and lived experiences.
Becoming aware of this vulnerability can have a significant emotional and social impact. It may cause fear or anxiety, affect family relationships or raise difficult questions — particularly because genomic information often involves uncertainty and probabilities rather than clear answers. Interpreting these risks can be challenging — see the topic on Uncertainty for more information.
Although this type of vulnerability cannot be eliminated, people can learn to manage this type of genomic information and the feelings it may provoke. Professional counselling plays a crucial role in supporting understanding and decision-making. Helping people become more familiar with genomics can also reinforce the idea that, despite genetic predispositions, individuals are more than their DNA and retain autonomy over their lives.
Genomic sequencing, research and data sharing have transformed the understanding of many rare diseases. Achieving an accurate diagnosis can end a long diagnostic journey and may enable earlier intervention, treatment options or informed reproductive planning. However, identifying a rare disease or genetic predisposition can also introduce new vulnerabilities — particularly when effective treatments are unavailable or unaffordable.
Where treatments do exist, they may be extremely expensive and offer uncertain benefits. Some rare-disease therapies receive accelerated approval to allow faster patient access, which can be crucial for rapidly progressing conditions such as spinal muscular atrophy (SMA). However, accelerated approval can raise legitimate concerns about long-term effectiveness and safety. As a result, some high-cost treatments may place families and healthcare systems under enormous pressure while offering uncertain outcomes.
Real story – Zolgensma: ‘the most expensive drug ever’
In 2019, Novartis launched Zolgensma at a price of €1.9 million, making it the most expensive drug at the time. Zolgensma is a one-time treatment for infants with spinal muscular atrophy (SMA), a rare genetic disorder that leads to progressive muscle weakness and often death in early childhood.Zolgensma has greatly improved outcomes for SMA. If given pre-symptomatically, some doctors believe it can approach a cure; earlier treatment generally yields better results. This promise puts families in a [desperate race against time[(https://www.theguardian.com/business/2022/mar/05/real-life-hunger-games-lifesaving-drug-costs-2m-dollars). However, clinicians also warn it’s not a miracle drug. The average age of diagnosis is five months, which often comes too late to reverse established damage.
Novartis has been criticised for selling the drug at such a high price, prioritising commercial interest above human wellbeing. It argues that its pricing reflects years of research and development, the limited patient population and the potential of averting lifetime treatment costs. However, many countries cannot fund it. Governments try to negotiate steep discounts with pharmaceutical companies, but the details of these negotiations are often opaque. Approval and reimbursement criteria also vary by country and a lot of families end up turning to crowdfunding to cover the costs when they can’t get coverage.
A widely cited case is that of baby Pia in Belgium. Pia was born with the most severe form of SMA in 2019, when Zolgensma was not yet approved or reimbursed in Belgium. The parents asked Novartis for compassionate access or a donation, but it refused. The family then crowdfunded the full amount in just a few days, sparking much national controversy and public debate on the need for structural solutions.
Rare diseases affect small populations, which means genomic data linked to them are inherently scarce. When datasets include related family members and unique genetic variants, the risk of identifying individuals increases. An analogy is often used: in a small village, describing a person with a distinctive trait and family connections may make it easy to identify them. The same applies to rare-disease data.
These risks are heightened by international data sharing, essential for rare-disease research. Single-country datasets are often too small to produce robust scientific evidence, making cross-border collaboration necessary. This increases the importance of strong privacy protections and governance.
Genomic data are powerful. They can improve diagnosis, treatment and prevention for both rare and common conditions, and they hold value for individuals, families and future generations. However, this power also creates vulnerability. If genomic data are misused, individuals may face discrimination or stigmatisation. People worry that employers, insurers, banks or other organisations could use genetic information — such as disease predispositions — to limit access to jobs, insurance or services. In practice, this could mean being denied employment, facing higher insurance premiums, or restricted access to financial or social services based on genetic characteristics that individuals cannot control. Such decisions risk reinforcing existing inequalities and creating new forms of exclusion. Even the fear of possible misuse can have harmful effects. It may discourage people from genetic testing or participation in research, potentially leading to missed diagnoses and lost opportunities for prevention or early treatment.
Real story – The Holmes case
In 2024, 17-year-old Carys Holmes was refused entry to the British Army because of a family history of breast cancer, despite having no diagnosis herself. Two relatives had breast cancer and carried a mutation in the BRCA1-gene, which significantly increases the risk of developing breast and ovarian cancer. Preventive measures, such as enhanced surveillance (e.g. regular mammography or MRI), risk-reducing surgery (e.g. bilateral mastectomy or removal of both breasts) and lifestyle adjustments, might however help reduce these risks. Carys had a 50% chance of carrying this genetic mutation and hence of developing cancer. However, she had not been tested and did not have any current illness or proven incapacity at that time.Carys’ story was widely covered in the national media and after the resulting public scrutiny, the British Army reviewed and reversed its decision, confirming Carys was medically fit to join. According to the Army, no policy of discrimination was involved but a process mistake had resulted in an erroneous rejection.
As science and society evolve, it is difficult to predict how genomic information may be used in the future — or [how it may be misused]](https://www.mdpi.com/2075-471X/7/2/17). Harm does not arise only from proven cases of discrimination; the anticipation of stigma or exclusion can also negatively affect people’s psychological wellbeing and social relationships.
Vulnerability arising from genomic data misuse can be reduced through strong data protection measures, laws and enforcement mechanisms. At EU level, these include frameworks such as the GDPR, anti-discrimination legislation, the AI Act and the European Health Data Space. These instruments play an essential role in protecting privacy and preventing unauthorised access or discriminatory practices. However, no legal system can prevent all misuse. Some discrimination may occur informally or unintentionally — for example in workplace cultures, social interactions or family settings — where legal protections are harder to enforce. This means some degree of vulnerability will always remain.
For this reason, legal safeguards must be complemented by robust, transparent governance frameworks that promote responsible and trustworthy use of genomic data. Public engagement is crucial — particularly through the involvement of patient organisations, which can help shape research priorities, care pathways and reimbursement decisions, and support access to registries, specialist centres and clinical trials that are often essential for rare disease patients.
When citizens are involved as partners and co-creators in shaping genomic policies and practices, vulnerability can be transformed into empowerment. Embedding shared values such as responsibility, transparency and collective benefit into governance frameworks helps ensure that progress in genomics serves society as a whole, rather than only commercial or technical interests.
Real story – Insurance protection in Australia
For a long time, Australian life insurance companies could ask for and use people’s genetic test results to decide whether they would offer coverage or increase premiums. Because of this, many people avoided genetic testing in both clinical and research settings, even if it could benefit their health. However, they were worried that genetic test results could make it harder or more expensive to get life insurance.In September 2024, the Australian government announced a legislated ban. From that time on, life insurers could no longer use genetic test results that show a health risk when underwriting life insurance. This legal change reassures people that they cannot be penalized by insurers on the basis of genetic test results. Yet, if they want, people can disclose results in their favor, for instance, to show that they are not carriers of a genetic variant known in their family.
This legislative development is significant for several reasons. First, people can now undergo genetic testing with greater peace of mind, as they no longer need to fear that potential results could render life insurance prohibitively expensive or even unattainable. As a result, more people may decide to take a genetic test that can identify health risks early, making it possible to start treatment or take preventive steps before serious illness develops. Second, the revised law can make people more willing to take part in scientific research on genetics, which can lead to important new knowledge and advances in medical care. Finally, legal protection against discrimination helps build public trust. When people are reassured that their data can’t be used against them, they’re more willing to take part in genomic health initiatives, which are critical for advancing genomic medicine.
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