The field of medicine is rapidly evolving as healthcare professionals are trying harder and harder to bridge the gap between disease and treatment of patients. Accordingly, the Food and Drug Administration (FDA) has recently issued draft guidance on next generation sequencing-based tests (NGS) for Obama’s Precision Medicine Initiative (PMI) aimed at precision medicine advancement.

The inclusion of genetics and genomic studies in medicine saw a rise immediately after the successful completion of the Human Genome Project in 2003. Entering a new era of medicine, human genetics experts began to explore the dimensions of different medical conditions in context with the genetic makeup of patients.

With the passage of time, genetic analysis techniques gradually improved, resulting in higher throughput, better precision and increased accuracy. With the advent of Next Generation Sequences (NGS) however, the power of technology exceeded everyone’s expectations.

NGS made it more convenient and efficient to scan a person’s genome to detect genetic variants that can help determine if a person is at risk of developing a disease. Not only does detecting the likelihood of a disease at a genetic level provide information about the disease or its potential risk but it also helps medical practitioners understand the degree or gravity of the disease and subsequent treatment modality.

The FDA recommendations have been forwarded in support of PMI which was announced by President Obama in his State of the Union address on January 20, 2015 and was aimed at empowering patients through advancements in medical research and technology.

With the inauguration of PMI, a new chapter in medicine began which was a collaborative effort of researchers, healthcare providers and technology experts towards the development of individualized care. With $215 million allocated in the 2016 fiscal year, the PMI Cohort Program will extend the use of precision medicine to all diseases by recruiting more than one million research participants.

FDA Commissioner Robert Califf, MD said, “Targeting the right treatments to the right patients at the right time is the goal of the President’s Precision Medicine Initiative,” He added that FDA is preparing for exciting advancements and approaches at multiple levels which will help patients view a complete picture of their health, as indicated by their DNA.

The dynamic field of genomic testing is progressing with the FDA fully supporting all advancement. However, regulation of these NGS-based tests is crucial for incorporating them in clinical practices. The validity and accuracy of these tests are of the utmost importance, otherwise the venture would be a waste of money.  Therefore, the released guidance drafts offer flexible and adaptive regulatory oversight of the test with room for accommodating improvements.

The director of FDA’s Center for Devices and Radiological Health, Jeffrey Shuren MD, JD, said the recommendations will encourage innovation and advancement towards the unified goal of providing individualized treatments to patients through precision medicine. He added, “The FDA’s job is to ensure that doctors and patients can depend upon the accuracy, reliability and clinical validity of these tests. It’s our hope that this approach will achieve just that.”

The first draft guidance is titled, Use of Standards in FDA’s Regulatory Oversight of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline Disease. After being finalized, the guidance will provide recommendations for designing, developing and validating NGS-based tests for inherited disease. With appropriate analytical validity, the test developers will be able to prepare for premarket submission after seeking help from the guidance.

The second draft guidance titled, Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics, will help test developers make use of clinical evidence to support the clinical accuracy and interpretation of their population-wide genomic analysis. Additionally, the test developers will also receive guidance about approval marketing of these tests.

These drafts will prove to be a leap forward in the development and commercialization of genomic tests. With only the best practices outlined in guidelines, test developers will come forward with high quality tests to better achieve precision medicine’s objective.

Precision Medicine Advancement

Have you ever wondered why a medicine may not be equally helpful for all individuals suffering from the same condition? The answer to this mind-boggling phenomenon lies in understanding the individual’s genome. Therefore, precision medicine promotes tailor-made treatment for people in accordance with the individuals’ needs. It makes use of information from people’s genes, lifestyle and environment, which in turn, helps medical professionals devise an individual-specific treatment by utilizing important insights.

Conventional medical diagnoses and treatments are designed to cater to the medical needs of an average patient. Governing by the principle of one-size-fits-all, conventional treatments may be effective for some but futile for others.

Advancements in precision medicine are leading to new discoveries in cancer research. Furthermore, the genetic profiling of tumors is helpful in detecting genetic variants and predicting the progression of cancer.

The treatments for melanomas, leukemias, breast, lung and colorectal cancers are transforming owing to the technological advancements of precision medicine. These evolving treatments will increasingly help physicians utilize patient-specific treatment routes which increase survival rates and promote health.