The Era of Genetics and Genomics in Medicine: Understanding Our DNA and Making Informed Choices

Neurodegenerative diseases, such as Alzheimer’s, Parkinson’s, and other dementias, are some of the biggest health challenges of our time—affecting millions worldwide. According to Alzheimer’s Disease International, over 55 million people worldwide were living with dementia in 2020, with projections estimating this number will rise to 78 million by 2030 and 139 million by 2050 (Alzheimer’s Disease International, 2021). In Europe, Alzheimer Europe reports that the number of people with dementia is expected to nearly double by 2050, reaching approximately 14.3 million in the European Union and 18.8 million in the broader European region (Alzheimer Europe, 2022). While these conditions have no cure yet, advances in genetic medicine are providing new possibilities for early detection, risk assessment, and personalised care, and genetics is playing a pivotal role in all of them.

The field of medicine also is changing: instead of using the same treatments for everyone (general medicine), healthcare professionals are now moving towards personalized medicine, which uses a person’s genetic information to predict risks and tailor treatments to each individual. This approach, also called genetic medicine, opens new possibilities for preventing and managing diseases in a more precise way. However, with this scientific progress comes a major challenge:

How can we ensure that people understand and use their genetic information effectively?

What is Genetic Medicine?

Genetic medicine is a branch of healthcare that uses genetic information to improve diagnosis, treatment, and disease prevention. Some of the most exciting breakthroughs include:

• Whole-genome sequencing – Scientists can now analyse an entire genome in a matter of days, allowing for early detection of inherited diseases.

• Precision medicine – Instead of using the same treatment for everyone, doctors can now tailor treatments to a person’s genetic makeup, increasing effectiveness.

• Gene therapy – An emerging field that is being developed to treat certain genetic disorders by correcting or replacing faulty genes. While gene therapy has shown promising results for some rare genetic conditions, such as inherited blood disorders, inherited retinal dystrophy or spinal muscular atrophy, its application is still under research for many complex diseases.

  
  

These innovations are already transforming how we approach diseases like cancer, neurodegenerative disorders, and rare genetic syndromes. However, genetic information is complex, and many people struggle to interpret what it actually means for them and their families.

The Role of Genetic Counselling

This is where genetic counselling plays a crucial role.

Imagine taking a genetic test and discovering that you have an increased risk for a disease. What should you do next? Does it mean you will develop the condition? Should you make lifestyle changes? Should your family get tested as well?

Genetic counsellors help answer these difficult questions.

Genetic counselling is a specialised field that helps individuals and families understand and interpret their genetic test results. These experts:

• Explain genetic concepts and test results in a lay manner.

• Guide individuals through their situation, helping them make informed decisions.

• Provide emotional support, as learning about genetic risks can be overwhelming.

Although genetic counselling is becoming more common and accessible service, many individuals remain hesitant to seek these services. This reluctance often comes from a lack of understanding about what to expect during a genetic counselling session, or simply from not knowing that such a service exists.

How Genes4All is Making Genetic Information More Accessible

At Genes4All, we are working to bridge this gap by developing digital tools and interactive resources that help people navigate genetic information during challenging moments in their lives.

How? Through Serious Games and digital learning platforms!

By integrating game-based learning and interactive decision-making tools, Genes4All aims to:

• Improve genetic literacy, making genetic concepts easier to understand for both the general public and healthcare professionals.

• Support genetic counselling with easy-to-understand digital resources that explain risks and options in an interactive way.

• Empower individuals and families to take control of their genetic information.

We aim to make genetic counselling more accessible by providing digital tools that help people navigate genetic testing results, understand their risks, and feel confident in their health decisions.

Genetic Medicine is Here – But Are We Ready?

The future of medicine is personalised. Genetic medicine is changing healthcare, but its success depends on ensuring that everyone—people with genetic conditions, doctors, and families—can understand and use genetic information effectively.

At Genes4All, we believe that knowledge is power, and are committed to making genetics interactive, accessible, and empowering. By combining science, technology, and education, we can help individuals make the best decisions for their health and their future.

💡 Want to learn more? Stay connected with us as we work to bring genetic literacy to everybody! In the coming months, we’ll dive deeper into many of the topics introduced in this article—such as genetic counselling, precision medicine, serious games, and genetic literacy.

References:

1. Alzheimer’s Disease International. (2021). Dementia statistics. https://www.alzint.org/about/dementia-facts-figures/dementia-statistics/

2. Alzheimer Europe. (2022). Prevalence of dementia in Europe. https://www.alzheimer-europe.org/dementia/prevalence-dementia-europe

#Genes4All #GeneticMedicine #GeneticCounselling #PrecisionMedicine #GeneticLiteracy #HealthForAll