The Promise Of Molecular Diagnostics

The life cycle for the development of a CMD assay through the different stages of biomarker discovery or identification, assay development and validation, and biomarker qualification typically takes four to five years. This is approximately half the time required to bring a new drug to market.

Given that the process is twice as fast, and is only a fraction of the drug development costs, there is a great incentive for molecular diagnostics companies to innovate and bring new tests to market. This creates a big opportunity for diagnostics companies to reap the benefits of time and cost savings, as well as for investment firms and venture capitalists to generate a quicker return on their investment.

What are the potential disadvantages of molecular diagnostics?

Despite the market opportunity for new CMD tests, there are concerns about gaining the support of reimbursement agencies for novel molecular diagnostic tests for cancer. The FDA has issued draft guidelines for the molecular diagnostics industry with regard to tests that fall under the category of in vitro diagnostic multivariate integrating assay (IVDMIA).

The compliance issue will certainly force companies to rethink their strategies about bringing tests to market. For existing players, this means adapting to the challenge of going through the FDA for an IVDMIA approval.

• High cost
• Standardization and validation of tests must occur
• Lack of availability at all medical centers

What are the potential advantages of molecular diagnostics?

The application of molecular diagnostics has been referred to as personalized medicine. Research that identifies unique gene and protein patterns associated with different types of cancer will result in cancer types being divided and subdivided according to their molecular diagnostics.

While this has the potential to improve cancer research, diagnosis, and treatment, the development of new therapies will require customized approaches to many cancer types and subtypes. Some new therapies will be more expensive to develop, and funds may not be available for cancer subtypes affecting smaller groups of people where less profit is possible.

Of major importance is how samples are collected, tested and validated. Please go to How Cancer is Studied /Translational Research / Biospecimen Issues for more information on this topic.

What is the availability of molecular diagnostics?

Diagnostic approaches presently available remain limited, and most are expensive, with the exception of the Pap smear, which has long been effective in detecting early-stage cervical cancer.

Some treatments developed through research on molecular diagnostics, have been approved by the FDA for use in specific types of cancer. In addition, some molecular diagnostic tests are used as standard care at major medical centers.

Molecular diagnostics are also available through participation in clinical trials (research studies in people). Health insurance companies may or may not provide coverage for molecular diagnostics, which may be very expensive.

Ask your oncologist about molecular diagnostics for your diagnosis, and about combining it with other cancer therapies.

What is the future of molecular diagnostics?

Future research will focus on developing molecular diagnostics to create the following scenario. A cancer patient visits her oncologist, gives a few drops of blood or a biopsy specimen, and is told that her genetic expression pattern shows she has a certain subtype of disease.

Meanwhile, another expression pattern predicts that her genetic profile should respond well to chemotherapy regimens A and B with minimal side effects.