Harnessing genomics for disease prevention (PHC) in Europe - Interview with Joanne Hackett

How genome sequencing can help healthcare systems to shift from paying for sickness and treatments to paying for health and prevention.

Spiralling healthcare costs, and a growing chronic disease burden, linked to Europe’s rapidly ageing population demands innovation at scale. Genomics - a branch of biology which looks at genomes and genetic material or DNA, holds enormous potential. From targeted personalised treatments to better diagnostics and prevention, next-generation genome sequencing technology is enabling high-speed analysis of large amounts of DNA. Joanne Hackett, Head of Genomic and Precision Medicine, at EMEA discusses how harnessing genomics for disease prevention (PHC) can help healthcare systems to shift from paying for sickness and treatments to paying for health and prevention.

1. How can genomic profiling enable the shift to Personalised Healthcare, precision medicine, and patient-centred care??

Interpreting people’s health characteristics – including their genomes is key to delivering more effective and efficient healthcare. Massive population-based analysis facilitated by pooling?knowledge encoded in genomic data can help to make earlier and more accurate diagnoses particularly if done at a young age for example with an inherited disease. Ultimately this is about a shift away from “one size fits all treatments” towards individually designed therapies and treatments.

2. How would you describe the current state of play in genome sequencing in Europe and Europe’s Genomic implementation strategy??

Europe’s genome project ‘Beyond 1 Million Genomes’ (B1MG) is paving the way for?researchers and clinicians across Europe to access big data on genotype and phenotype. As genomic information is the most personal of all personal data, the B1MG?initiative is also looking at developing the legal mechanisms and ethical best practices. Some countries have already set up ways to share this information within their country, but the B1MG project aims to extend this and make it possible to share this data across borders. This will enable a better understanding of genetic diseases and variations of more common conditions such as cancer and ultimately accelerate adoption of personalised medicine to improve outcomes for patients.??

3. Can you share why obtaining and using genetic data should be a priority for European healthcare systems??

The more we know about the genome, the better personalised medicine can be. Research in this area, for example, identifying which genomic variants cause specific disorders, often requires large sample sizes to obtain statistically significant results. This is one reason why collecting more samples and making them available for research would have a positive influence on healthcare to enable new treatments to be developed. Conversely, genomic data is also being used in drug discovery for developing better therapeutics that offer more precision as they work best within certain cohorts of people, this is particularly true in cancer research as every tumour is unique, despite being “breast” or “colon” cancer.?

4. What diseases have already benefitted from genomic sequencing??

At this stage, most people are familiar with BRCA gene testing for cancers, mostly breast and ovarian cancer in women and prostate in men. This testing has helped many people identify their inherited risk and mitigate cancer development. Genomic testing of tumour cells from cancer patients allows a genomic profile to be created. This information can help to identify which targeted therapies will work best for a patient. A final example for oncology is the testing of circulating tumour DNA (ctDNA) which is found in bodily fluids like blood. This material is simply the DNA that has been expelled from tumour cells and can be found circulating the bodies bloodstream.?

5. What are the main barriers for European healthcare ecosystems to evolve to support genetic knowledge and competencies???

Despite enthusiasm about the potential for genomics to improve patient care, barriers to widespread adoption in clinical practice exist. Scientific, educational, ethical, legal, and social issues are all potential barriers preventing healthcare systems from effectively adopting genomic medicine. The integration of new innovations can be complex and requires investment and thorough planning to ensure a successful roll out.?

6. Genomic information is the most personal of all personal data. What guardrails need to be in place to ensure public confidence that data will be used appropriately and ensure benefits will ‘pay back’ in return for this highly privileged access??

Custodians of healthcare data need to protect the privacy of patients and use a variety of privacy-enhancing technologies and safeguards to protect individual privacy while advancing healthcare and medicine. Genomic deidentification technology allows the protection of patient level genomic data while still maintaining the value of that data for research.?At the same time, globally diverse teams need to be empowered to speak a common language and make efficient, effective decisions related to sensitive data handling.?