The Future of Personalised Medicine: Why Sharing Genomic Data with Your GP Matters

In an era where personalised medicine is rapidly advancing, the integration of genomic data into personal health records holds immense potential for improving patient care. Recently I decided to speak to my GP Practice in NHS Scotland about the possibility and benefits of including my DNA and genomic sequencing profile in my personal health record.

This profile, which includes a wealth of information on my genetic predispositions, potential health risks, wellness insights, and since opting for the enhanced report which provided some very detailed analysis and insights about my genetics, family history and specific results around pharmacogenomics for a number of medicines along with a few increased risk profiles around age related long term conditions, which incidentally is also linked to the genetic data of my dad, my sister and one of my sons, all of whom have 23andMe reports, could be a game-changer in my ongoing healthcare journey.

However, to my surprise, the practice declined my offer to provide them with a copy of my genomic data, despite this being of no cost to them, and offering the potential for better personalised medicine and clinical decision making in the future. This response got me thinking about the broader implications and the potential barriers to adopting genomic data in primary care settings within the NHS.

Understanding Genomic Sequencing

Genomic sequencing involves analysing an individual's DNA to identify variations that may affect their health. This comprehensive analysis can reveal valuable information, such as:

1. Genetic Predispositions: Identifying risks for conditions like heart disease, diabetes, and certain cancers.
2. Pharmacogenomics: Understanding how an individual might respond to specific medications, thereby optimising treatment plans.
3. Carrier Status: Knowing if one is a carrier for genetic disorders, which is crucial for family planning.
4. Ancestry and Traits: Gaining insights into genetic heritage and specific traits that may influence health and wellness.

The Benefits of Integrating Genomic Data into Health Records

Including genomic data in personal health records can significantly enhance the quality of care provided by GPs. Here are some key benefits:

1. Personalised Treatment Plans: GPs can tailor medical advice and treatment plans based on an individual's unique genetic makeup.
2. Proactive Health Management: Early identification of genetic risks enables proactive monitoring and preventive measures, empowering responsibility to the patient for prevention.
3. Improved Medication Management: Pharmacogenomic insights help in prescribing the most effective medications with minimal side effects.
4. Informed Health Decisions: Patients can make better-informed decisions about their health and lifestyle based on their genetic predispositions.

The Reluctance of GP Practices

Despite these benefits, there are several reasons why GP practices might be hesitant to integrate genomic data, particularly within the NHS framework in Scotland:

1. Data Privacy and Security: Concerns about the security of sensitive genetic information and the potential for misuse.
2. Lack of Training: Many GPs may not have the necessary training to interpret and utilise genomic data effectively.
3. Resource Constraints: Integrating and managing genomic data requires additional resources and infrastructure, which may not be readily available in all practices.
4. Regulatory and Ethical Concerns: Navigating the ethical and regulatory landscape of genetic data can be complex.

Moving Forward: Bridging the Gap

To bridge this gap, and realise the future benefits available to the NHS in cost avoidance, patient demand and moving closer to enabling people in general to understand their own responsibilities for their health and wellbeing and aging well, it is essential to address these concerns through:

1. Education and Training: Providing GPs and clinicians with the necessary training to understand and utilise genomic data.
2. Robust Data Security Measures: Ensuring stringent data privacy and security protocols to protect genetic information.
3. Collaborative Efforts: Encouraging collaboration between genomic experts, healthcare providers, the public and policymakers to create a supportive framework.
4. Patient Advocacy: Empowering patients to advocate for the inclusion of genomic data in their health records and highlighting its potential benefits.

Conclusion

The integration of genomic data into personal health records represents a significant step forward in personalised medicine, especially when 'consumers' are happy to pay for this service. While there are challenges to overcome, the potential benefits for patient care are substantial. As we continue to advance in this field, it is crucial for government, patients and healthcare providers within the NHS to work together to embrace these innovations and unlock the full potential of personalised healthcare.

I already knew I had an increased risk of developing haemochromatosis in later life, an uncle died from it and probably unsurprising since I have a 100% Irish and Scottish heritage, with much more Irish than Scottish, part of the reason I paid for this report. That said there were other items flagged in the 125 test reports undertaken (nothing urgent or scary at this time) relating to health risks, carrier statuses, general wellness, mental health and trait reports that would most certainly aid clinical decision making in the future.

I know we are struggling to integrate health and social care in a meaningful way when it comes to data just now, and perhaps asking for my personal data to be integrated into my primary care file was possibly just a stretch too far at this stage, however when I opened the conversation with my offer, the practice manager told me I was the first person to ask that question, and upon checking politely declined saying that is not information the practice would seek.

By sharing my experience and insights, I hope to spark a broader conversation about the importance of genomic data in primary care and encourage more discussion about the integration of data offered to the health service by patients (which includes health data from personal (FDA or CE approved) medical devices) for the benefit of themselves and a more efficient and sustainable service delivering better outcomes through a deeper understanding of the individual. This is the future of a sustainable and future proof health and care service surely?