The Hidden Risks of Genetic Testing: What You Need to Know

Genetic testing has become increasingly popular, with many people seeking insights into their ancestry, health predispositions, and other traits through DNA sequencing services. Companies like 23andMe, Dante Labs, and others promise to provide a window into our genetic blueprint, but there are important considerations to bear in mind before sharing your DNA with commercial services. Here, we will examine what genetic sequencing really is, how it is used to assess health risks, and what you should know about data privacy and regulations.

What Is Genetic Sequencing and What It Is Not

Genetic sequencing is the process of reading and analysing an individual's DNA to identify genetic variations. These variations can provide information about your health, including predispositions to certain diseases, response to medication, and even genetic traits like eye colour or the ability to taste certain flavours. However, it's important to remember that DNA sequencing is not a crystal ball—it provides probabilities, not certainties. Having a genetic predisposition to a condition does not mean you will necessarily develop it, just as the absence of such a marker does not guarantee immunity.

Genetic sequencing can vary in depth and purpose. The most basic tests focus on specific genetic variants, while whole-genome sequencing (WGS) provides a complete picture of nearly all of an individual's DNA, offering the most detailed insights into health but at a higher cost. There are also intermediate levels like whole-exome sequencing, which targets the protein-coding regions of DNA, and SNP genotyping, commonly used by many commercial services, which identifies common genetic variations. For understanding health risks, whole-genome sequencing is the most comprehensive option, but SNP genotyping can be sufficient for a basic overview of common health predispositions.

Understanding Health Risks Through DNA Testing

DNA sequencing can be incredibly insightful when it comes to understanding health risks. It can indicate whether you carry specific genetic markers linked to an increased risk of heart disease, cancer, or diabetes. This knowledge can help individuals make informed lifestyle choices or take preventive health measures. However, these insights must be interpreted in the context of other factors like diet, environment, and family history, as genes are only part of the story.

Incorrect interpretations can lead to unnecessary anxiety. A friend of mine used a specialist provided by Dante Labs to understand her genetic results. Unfortunately, the specialist misinterpreted a potential risk, which scared her unnecessarily until she sought a second opinion from a professional genetic counsellor who reassured her that the risk was minimal. This highlights the importance of consulting qualified professionals to interpret genetic data accurately.

Data Privacy and Regulations: A US vs. EU Perspective

One of the major concerns with commercial DNA testing is data privacy. Genetic data is highly sensitive, and recent news about 23andMe exploring a potential sale highlights the risks. The genetic data of over 15 million customers could end up in the hands of new ownership, potentially changing how that data is used and who has access to it.

In the US, genetic testing companies like 23andMe are not subject to HIPAA (Health Insurance Portability and Accountability Act) regulations. This means their data privacy protections are relatively limited compared to healthcare providers. While there are laws like the Genetic Information Nondiscrimination Act (GINA) that restrict the use of genetic data by health insurers and employers, these laws do not cover life or disability insurers, leaving significant gaps. It raises the question: if your insurance company learned you have a predisposition for heart disease, would your premiums remain the same?

In the EU, regulations like the General Data Protection Regulation (GDPR) offer more robust protections. Under GDPR, companies must obtain explicit consent for processing genetic data, and users have the right to request data deletion. Despite this, the handling of genetic data across borders remains complex, particularly as many companies operate globally and data transfers may involve jurisdictions with less stringent protections.

Who Are the Main Players?

Aside from 23andMe, there are several popular companies offering genetic tests for individuals in Europe and the US, though this list is not exhaustive:

1. Dante Labs: Based in Italy, Dante Labs offers a wide range of genetic testing services, including whole-genome sequencing. While their data privacy is GDPR compliant, the customer experience can be mixed. I personally used Dante Labs and found their insights valuable, but their customer service left much to be desired. In addition, as mentioned earlier, their recommended specialist misinterpreted results for a friend, which emphasises the need for caution.
2. GenePlanet: Based in Slovenia, GenePlanet offers health and lifestyle DNA testing with a focus on user-friendly reports and GDPR compliance. Their services are targeted at individuals looking to improve their health and lifestyle based on genetic insights, but like other providers, the quality of interpretation may vary.
3. Nebula Genomics: Nebula Genomics,?an American-based company, offers whole-genome sequencing with a focus on privacy and data ownership. Unlike some other providers, Nebula allows users to maintain ownership of their genetic data, and they use blockchain technology to provide additional security. Their privacy-first approach and transparency make them a strong contender for those concerned about data security.

Home DNA Tests vs. Lab-Based Testing: Saliva vs. Blood

When it comes to reliability, there is a difference between home DNA tests and lab-based testing. Most consumer tests, such as those from 23andMe and AncestryDNA, use saliva samples. While convenient, saliva samples may be slightly less accurate due to contamination risks or lower DNA concentration. Blood tests, often used in clinical settings, provide higher accuracy and are less prone to these issues. Dante Labs, for example, uses a blood sample collected through a simple device that involves pressing a button to insert a needle into your upper arm.

Home tests are great for getting an overview of your genetic traits and potential health risks, but they should not be considered diagnostic tools. If you receive alarming results, it's always advisable to follow up with a healthcare professional for further testing and interpretation.

How to Navigate the Genetic Testing Landscape

With so many options available and varying levels of quality, how should you go about choosing a genetic testing service? Here are some steps to help guide you:

1. Understand Your Goals: Are you primarily interested in ancestry and family heritage, or are you seeking insights into your health? For entertainment purposes, services like MyHeritage or AncestryDNA might be sufficient. For health insights, look for companies that provide clinically relevant results and consult a professional for interpretation.
2. Review Data Protection Policies: Carefully read the small print regarding data protection. Understand who has access to your data, whether it will be shared with third parties, and if you have the option to delete your data. For example, while 23andMe offered an opt-out for research use, ownership changes could affect data use policies. Key features to look for include GDPR compliance, the retention period for your data, and the involvement of third parties in data processing. I have included a small table at the end that compares the data protection rules of three companies based on their privacy policies. Please note that I have no affiliation with any of these companies; I am simply a moderately satisfied customer of Dante Labs.
3. Check Customer Reviews: Reviews can provide insight into the quality of customer service, the accuracy of results, and any issues with data privacy. For example, Dante Labs offers comprehensive data, but many users have reported issues with customer support and unclear result interpretation. Be cautious of companies where reliable customer information is scarce.
4. Consider Sample Type and Data Linking: Understand how the test is administered and how your data is linked back to you. Saliva tests are convenient but may be less reliable compared to blood tests. Additionally, make sure the company has secure methods of linking your data to your identity to prevent potential misuse.

Navigating the Genetic Testing Jungle

So how does one navigate this complex landscape of genetic testing? Ensure that the company you choose complies with strong data protection regulations, such as GDPR in the EU, which offers robust protections. In the US, it's important to be extra cautious due to the lack of comprehensive data privacy laws. Look for transparency in how companies use and store your data, and prioritise those that give you the option to delete it.

It's also crucial to manage your expectations. Genetic testing can provide valuable insights but comes with limitations and risks, especially when it comes to privacy. For those looking for more secure and reliable results, opting for lab-based tests conducted by healthcare providers might be a better choice, as they come with more stringent privacy protections.

In a world where data breaches are increasingly common, it's vital to be aware of the risks associated with sharing your genetic information. Make informed choices, understand the limitations of DNA testing, and choose providers that respect your privacy.

One remaining challenge is understanding your data. Finding genetic specialists is not easy, and healthcare systems may not refer you unless you present clear symptoms of a genetic disease. Platforms like sequencing.com offer marketplaces of apps to help explore your data, while companies like InsideTracker allow you to upload DNA results for interpretation. However, incorporating these insights into a broader understanding of individual health risks, alongside current biomarkers, is still not a widely available practice—hopefully, that day will come soon.

Remember, your DNA is the most personal information you own—handle it with care.