Precision Medicine

What is Precision Medicine?

Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.” This approach allows physicians and researchers to predict more accurately which treatment and prevention strategies for a particular disease will work in which groups of people. It is in contrast to a one-size-fits-all approach, in which disease treatment and prevention strategies are developed for the average person, with less consideration for the differences between individuals.

Potential benefits of Precision Medicine include:

  • New partnerships of scientists in a wide range of specialties, as well as people from the universities, pharmaceutical companies, patient advocacy community, and others
  • Improved ability to predict which treatments will work best for specific patients
  • Better understanding of the underlying mechanisms by which various diseases occur
  • Improved integration of electronic health records (EHRs) in patient care, which will allow doctors and researchers to access medical data more easily

Precision medicine is a young and growing field. Many of the technologies that will be needed to meet the promises Precision Medicine are still in the early stages of development or still being developed.

As precision medicine approaches become a routine part of healthcare in the future, doctors and other healthcare providers will need to know more about molecular genetics, targeted therapies, immunotherapy and artificial intelligence. They will increasingly find themselves needing to interpret the results of genetic tests, understand how that information is relevant to treatment or prevention approaches, and convey this knowledge to patients.

Precision medicine has largely focused on targeted panels to evaluate potential targets for treatments. Technologies such as sequencing large amounts of DNA have been very expensive to carry out, however, the cost of sequencing is rapidly decreasing. Additionally, drugs that are developed to target a person’s genetic or molecular characteristics are likely to be expensive. The Foundation will also make every effort in make new drugs available to patients.

Precision Medicine in Europe and Italy

There is a huge variability across countries in genomic testing and in clinicians’ understanding. Most oncologists and urologists in Europe are aware of the importance of implementing Precision Medicine for tumors such as prostate cancer. Most European, national and local conferences include sessions dedicated to these topics and clinicians understand that this is something that “will” happen”, but outside academic institutions or clinical trials most people are not sequencing tumors. In different parts of the European Union, there are several reasons:

Clinicians understanding of prostate cancer genetics, genomics, plasma/tissue testing, and other methodologies is very variable from one person to another, but it seems that colleagues treating some tumor types (i.e. lung cancer) are more knowledgeable of these aspects. It will take some time, but local scientific societies should invest in educating clinicians who care for a very large number of patients.

Despite the imminent approval of Olaparib in prostate cancer, there is not currently a national agreement on how and what to sequence in Italy for prostate cancer patients. Many clinicians are asking patients to pay for private outside tests, using either tissue samples or blood ones, but it is not reimbursed by AIFA.

Recently AIOM guidelines have suggested:

  • to get a tissue/blood sample tested for all patients with advanced prostate cancer,
  • in case of identified mutation, then to receive genetic counseling for germline testing.

There is no recommendation on which tumor sample is better to use (blood, tissue) or which platform.

For germline testing, instead, there are a few hubs for the identification of BRCA2/1 mutations, mainly used for breast and ovarian cancer patients with a positive family history.

For prostate cancer, Italian physicians can now request germline BRCA in the context of an increased family risk, as indicated by national guidelines. Also, recently the SSN added the somatic BRCA determination, as possibly reimbursed.

For all tumors, including prostate cancer, Italian physicians can also determine (and is reimbursed) the status of microsatellite instability (MSI) (by IHC or PCR), for the agnostic use of immunotherapy. However, tumor mutational burden (TMB) is not reimbursed, nor an indication for immunotherapy, based on AIFA.

At the moment, single tests are reimbursed (gBRCA, somatic BRCA and MSI) but not next generation sequencing (NGS).

Implementation in clinical practice and accessibility to Molecular Tumor Boards (MTBs) is still limited, as shown by a recent AIOM survey, according to which only 13% of oncologists can rely on these multidisciplinary teams in their facility.

For prostate cancer

  • NCCN and ESMO guidelines encourage genomic testing
  • Huge variability across countries in access to Genomic Testing
  • It is likely that there is also huge variability in the testing methodology itself in different centers
  • There doesn’t seem to be enough oversight to validate testing
  • Many countries do not offer genetic testing and it is not reimbursed
  • As more drugs are approved, individual tests will likely be more frequently offered
  • There is a lack of genetic councilors
  • Increased implementation in clinical practice and accessibility to Molecular Tumor Boards will be our hope for the future

What is the Englander Institute for Precision Medicine (EIPM)?

At the EIPM, Dr. Sternberg is collaborating in changing the face of how we diagnose, treat, and care for patients using a personalized approach and genomic sequencing data. Some of the most serious diseases can be traced in our genome. For these diseases, in EIPM we have aimed to deliver more effective treatments by identifying and characterizing genomic changes underlying genetic-based ailments. In EIPM we collaborate with clinical departments to provide a comprehensive interpretation of patient genomes and act as a permanent resource for our clinicians to make effective use of genomic data to optimize patient care. To this effort, we are channeling our efforts towards developing therapies where genomic data contribute significantly to the clinical result and offer hope for transforming health care.

A multidisciplinary approach is at the EIPM that brings together motivated physician-scientists and researchers from around the world that specialize in various different fields including oncology, computational biology, genomics, radiation oncology, nuclear medicine and biomedicine to target some of the most formidable health challenges. This multidisciplinary approach is critical to advancing treatment and speeding the transition from discovery to clinical implementation. EIPM researchers are pushing scientific discoveries forward and speeding breakthroughs made in the laboratory directly to the patient’s bedside.

Bringing this type of multidisciplinary approach to Italy would be a great achievement.