Update on molecular companion diagnostics - a future in personalized medicine beyond Sanger sequencing

ABSTRACT

Introduction

The merging of molecular diagnostics with personalized medicine has led to a surge in development of molecular-based companion diagnostics. Companion diagnostics, defined as ‘a medical device, often an in vitro device, which provides information that is essential for the safe and effective use of a corresponding drug or biological product’, are key to the appropriate utilization of several pharmacotherapies; primarily in the area of oncology.

Areas Covered

While most molecular companion diagnostics are targeted toward oncology, the potential to multiplex assays will contribute to an expansion in the applications of companion diagnostics for an increasing menu of disease states and conditions including areas such as infectious disease, cardiology, and hematology.

Expert opinion

With this innovation comes the responsibility to ensure molecular companion diagnostic devices are robust and controlled against the detrimental effects of false positive/negative results. Additional important considerations, such as paired development with pharmaceutical companies and adherence to Food and Drug Administration and/or European Union guidelines, must be addressed. While the current number of companion diagnostics is relatively small, as molecular assays continue to be developed as companion diagnostics the world of personalized medicine will advance to meet the needs of an expanding portion of the patient population.

KEYWORDS:

• Companion diagnostics
• molecular diagnostics
• next-generation sequencing
• oncology
• pharmaceuticals
• pharmacology
• sanger sequencing

Article Highlights

• Introduction

  • Individual responses to pharmaceutical therapies can differ based on genetics

    • Personalized medicine utilizes biological markers and genetics to tailor pharmaceutical treatment plans to patients

  • Molecular genetic testing is now more advanced and accessible

  • The pharmaceutical industry and laboratory diagnostics have begun collaborating to offer molecular-based companion diagnostics

    • To determine the potential for harm or efficacy from a pharmaceutical therapy

• Body

  • The first molecular-based companion diagnostic detected HER-2 protein overexpression in breast cancer patients to evaluate candidacy for trastuzumab

  • Today, a variety of molecular techniques are employed in companion diagnostics

  • Most molecular companion diagnostics are for oncology drug therapies, but other areas may be relevant in the future

  • The Food and Drug Administration and European Union have issued guidance documents to assist industry

• Discussion

  • Molecular-based companion diagnostics and corresponding pharmaceutical therapies should be codeveloped

    • Companies are emerging and adapting to assist in this process

  • Measures must be in place to ensure acceptable performance of these devices

  • Molecular diagnostics (including companion diagnostics) will continue to advance

    • Incorporation of next-generation sequencing

    • Multiplexing assays

      • Requires significant bioinformatics support

• Conclusion

  • As the personalized medicine movement grows, molecular-based companion diagnostics will become increasingly prevalent and advanced

Declaration of Interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewers Disclosure

Peer reviewers on this manuscript have no relevant financial relationships or otherwise to disclose.

Additional information

Funding

This paper was not funded.