Proceedings: DIA Europe 2019

Precision Medicine:
Gene Editing, Advanced Therapies, Personalized Medicine

Kayla Valdes
Associate Director, Scientific Programs, Americas

DIA Europe 2019

s the field of precision medicine continues to rapidly evolve, we grow closer to developing personalized treatments for patients. However, multiple challenges impede the widespread adoption of personalized medicine approaches. This session offered solutions to these challenges and demonstrated the wide diversity of methods and technologies we will need to implement precision medicine in the future.

Key Takeaways:

  • Personalization gained from novel advanced therapies, such as genome editing technologies (e.g., CRISPR-Cas9), can allow for tailored modifications to correct genetic mutations in cells and tissues to treat a variety of intractable diseases, further advancing the field of precision medicine.
  • With precision medicine, alternative benefit-risk assessment calculations must be taken into account due to the small sample size for any given treatment in development. Stakeholders must rely on new and alternative statistical methods, such as pairwise comparison of patient outcomes, in order to appropriately calculate individual benefit-risk.
  • Genomics on a population scale may be used to identify individual disease risks and suitability of medicine use, even before the onset of disease, shifting the current standard of care from reactive to proactive.
  • Communication, engagement, accessibility, and adaptability can result in high levels of public trust. Clear communication about data ownership and privacy can increase this trust and enable more openness.

Precision medicine is defined as the evidence-based selection of an intervention that aims to improve the prevention, diagnosis, or treatment of a disease based on patients’ individual characteristics and preferences. Several initiatives and scientific advancements–within government and industry–aim to bring precision medicine initiatives to the forefront of patient care in the 21st century.

As more data are collected from DNA sequencing, and science continues to uncover the secrets of the human genome, more diseases or predisposition to developing certain disease are being attributed to specific genes. Public and private initiatives across the EU aim to collect human genetic information for precision medicine strategies. The panel highlighted the successful data collection of Estonia’s 100,000 Genomes Project, an initiative aimed at collecting citizens’ genomic data to better inform their healthcare treatment, and to prevent common diseases such as type 2 diabetes and cardiovascular disease. Through outreach, accessibility, and adaptability, Estonia was able to achieve its goal, demonstrating the willingness of individuals to understand how their genetic makeup will impact their health in the short- and long-term.

As genetic information is collected from individuals, the data can be used to develop patient-tailored therapies or prophylactic treatment strategies. Newly available tools and technologies such as genome editing can advance precision medicine by directly adding, removing, or altering genetic code at a particular location. Currently, 18 genome editing-based therapies are undergoing clinical trials worldwide; for example, genome editing is currently being studied to treat sickle cell anemia, and to develop a CAR-T cell therapy to target cancer tumors.


As more of these advanced therapies are implemented in the clinic, it is important to consider novel approaches to calculate benefit-risk due to the typically smaller sample sizes that result from developing targeted, individualized treatments such as a new genome editing-based therapy. Current benefit-risk calculations for clinical studies typically use a single endpoint to validate study results, and do not consider other information, including patient preference, typically collected throughout a clinical trial. The panel suggested using generalized pairwise comparisons as an alternative method to calculate benefit-risk. This method will allow for individual patients to be compared between study arms based on priority of outcomes, resulting in a net benefit calculation of the treatment for any given individual. This statistical method is currently being further studied and validated through Project BENEFIT (Biostatistical Estimation of Net Effect For Individualization of Therapy) to determine if it is a viable method that can be used by stakeholders in precision medicine.

Session Chair: Klaus Cichutek, Paul-Ehrlich-Institut

Panelists: Tatiana Anna Reimer, Bayer; Kristiina Rosin, Abbvie Ltd.; Everardo Saad, IDDI.

Despite these advances, several challenges must be considered and addressed. For example, sample collection and data analysis for genome-based studies need to factor in data privacy and ownership, in addition to regional differences in legal and regulatory landscapes. Implications of acquired information must also be taken into account: How much does the patient want to know about themselves, and how will this potentially impact insurance rates and payer policies?

Adopting new tools and technologies for precision medicine, such as genome editing, also face many other unknowns, such as safety, quality, and ethical concerns. Corresponding new statistical approaches must be validated before they can be effectively implemented.

It is clear that precision medicine is an exacting approach to care that will need to leverage genomic data, new advanced therapies, and other tools and technologies to be fully realized. To continue moving forward, close collaboration between industry and regulators, rapid adaptability to new technology, and public trust are key. Truly personalized care has the potential to revolutionize the healthcare of tomorrow and develop tailored treatments for those in need.