Precision Medicine

An emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person

What is the scientific basis of precision medicine?

Precision medicine is based on the fact that each individual’s genes, environment, and lifestyle are different and that treatments should be selected taking these individual variations into account. Information about a patient’s genome as well as other data, e.g. proteomics or metabolomics, need to be analyzed to determine not only the cause of a disease but also the best treatment available to the patient at a given time in their disease course.

Precision medicine involves several steps: developing a therapeutic hypothesis, determining which patients respond and why, and creating mechanisms to identify these patients. (2)

The response to treatment is monitored closely often using surrogate endpoints and adjusted as needed.

Precision medicine is often summarized as providing the right treatment to the right patient in the right does at the right time.

What has made precision medicine possible?

Advances in a number of disciplines were necessary to make precision medicine possible. The most important two are:

  • Advances in genomics, esp. the availability of fast and cheap genome sequencing techniques. These advances make it possible to study the links between genetic variants and disease in genome-wide association studies as well as sequence a patient’s genome to select the best course of treatment based on their genetic variants.
  • Development of artificial intelligence specifically machine learning and deep learning algorithms that are able to analyze data, recognize patterns and predict outcomes very quickly.

What are the benefits of precision medicine?

Traditional evidence-based medicine focuses on developing drugs that are shown in clinical trials to provide clinical benefit to the average patient. However, these findings might – or might not - apply to an individual patient.

Precision medicine, while still evidence-based, shifts the focus from “averaged” medical decisions to individualized ones that take a patient’s genes, behavior, and environment into account. Concrete benefits may include:

  • Reduces trial and error related to treatment choices because the most beneficial treatment can be determined based on the patient’s characteristics.
  • Puts more focus on preventing disease as opposed to reactively treating disease
  • Lowers healthcare cost because of disease prevention and targeted more effective treatment intervention.
  • Smaller, fast and cheaper clinical trials that result in effective treatment options for subsets of patients (vs. blockbuster drugs)

What are the challenges of precision medicine?

Broad implementation of precision medicine faces various challenges such as:

  • An evolving regulatory framework

  • Data security and privacy concerns related to the collection of massive amounts of patient health data

  • Unclear payment and reimbursement models, especially given the high cost of many precision medicine treatments, such as immunotherapy treatments

  • Implementation issues related to data access, interoperability, electronic health records functionality, research and information sharing, and payment mechanisms

    Education of both physicians and patients who need to acquire at least basic knowledge of genetics and how to interpret genetic test results.

  • Equitable access to medical advances for racial and ethnic minorities whose genetic variants are insufficiently studied and understood.

How does precision medicine impact medical affairs?

The adoption of precision medicine impacts the medical affairs departments of (bio)pharmaceutical companies in a number of ways. Examples include:

  • Precision medicine with its often complex and individualized treatment options makes scientific communication between medical affairs, especially medical science liaisons and healthcare providers even more critically important.
  • Precision medicine relies on the analysis of large amounts of disparate data, medical affairs need to acquire or expand their capabilities for collecting, combining, analyzing and interpreting data, such as real-world data, clinical data and data captured in electronic medical records.
  • Patients and patient advocates are emerging as stakeholders of importance and medical affairs need to develop engagement strategies that are different from those targeting healthcare providers and external experts.
  • Medical affairs need to engage care teams, esp. in oncology rather than individual HCPs.

References

(1) https://ghr.nlm.nih.gov/primer/precisionmedicine/definition

(2) www.clinicalleader.com/doc/clinical-trials-in-the-era-of-precision-medicine-what-needs-to-change-0001

Physician Payments Sunshine Act
Principal Investigator