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European Biopharmaceutical Review

Individual Focus

Personalised medicine refers to the use of molecular profiling to produce individually tailored therapeutic strategies to determine patients’ predisposition toward an illness, and to deliver timely, targeted disease prevention.

There have been steady developments in the personalised medicine field, with a 57% increase in products in the last three years. In 2006, there were 13 prominent examples of personalised drugs, treatments and diagnostics on the market; in 2011, there were 72; and today there are 113. Patients have benefited from these major biological insights and those with melanoma, leukaemia or metastatic lung, breast or brain cancers are now routinely offered molecular diagnosis at some clinical centres, allowing doctors to select tailored treatments that can greatly improve their chances of survival.

Based on these advances, together with the public’s growing demand for better medicine and society’s need to increase the value of their healthcare systems, the Personalized Medicine Coalition aims to make the development and adoption of personalised medicine a priority on the pharmaceutical agenda. The following is based on their report, The Case for Personalized Medicine.

Tailored Potential

Personalised medicine relies on the use of molecular markers that indicate disease risk or presence before clinical signs and symptoms appear. This provides the opportunity to focus on prevention and early intervention, as opposed to reaction at a later, and more advanced, stage of disease progression.

It is particularly valuable when we consider that many patients do not benefit from the first drug they are offered in treatment. For example, 38% of those experiencing depression, 50% of arthritis sufferers, 40% of those with asthma and 43% of diabetics will not respond to their primary treatment. The use of genetic screening can allow the physician to select an optimal therapy first time, avoiding patient frustration and the costly practice of trial-and-error prescribing.

Furthermore, personalised medicine has the potential to introduce new scientific, business and medical models – dividing populations into groups of patients who have a greater likelihood of responding to particular therapeutics or avoiding specific side-effects. This not only changes the dynamic of drug development, but also the practice of medicine. It means that patients can benefit from better drugs, as well as new diagnostic and prognostic tools.

Further advantages of personalised medicine include:

  • Shifting the emphasis in medicine from reaction to prevention
  • Helping avoid adverse drug reactions
  • Increasing patient adherence to treatment
  • Improving patient quality of life
  • Revealing additional or alternative uses for medicines and drug candidates
  • Helping control the overall cost of healthcare
However, in order to keep up with this technology and make it both effective and viable, serious effort is required across the entire healthcare system. Regulatory authorities must establish a clear set of guidelines for evaluating and approving personalised drugs, as well as the diagnostics that identify patients who can benefit from them.

Personalised Testing

While healthcare professionals can use their discretion to diagnose and treat individual patients as they deem appropriate, pharmaceutical products, biological products and medical devices used in personalised medicine must meet a number of regulatory requirements set out by the FDA before being allowed to enter the market.

The FDA has published guidance on the regulation of both personalised medicine tests informing clinical decision-making and tests guiding drug dose and selection. Currently, diagnostic kits – which contain all the active ingredients required in laboratory-developed tests (LDTs) – are regulated by the FDA, but the LDTs themselves are not actively controlled. The majority of personalised medicine diagnostics fall under this category, and the Agency has since stated its intention to apply risk-based oversight of LDTs as medical devices under the US Federal Food, Drug and Cosmetic Act. Some have questioned the FDA’s jurisdiction and whether they have the appropriate regulatory authority to do this.

At the same time, the Centres for Medicare and Medicaid Services (CMS) also claim authority over LDTs. Under their authority, labs are subject to the Clinical Laboratory Improvement Amendment (CLIA) rules. Clinical labs can obtain CLIA certification directly from the CMS.

It has been argued that the FDA should assume a more active role in regulating certain molecular diagnostic tests, as the proliferation of complex new tests is linked to major health decisions targeted directly at consumers. However, although a number of FDA approvals have been conferred upon LDTs, the vast majority of molecular tests remain to be submitted for endorsement. The FDA has declared its goal is to take a tiered approach, with tests linked to riskier clinical decisions requiring a more rigorous study – but CLIA certification continues to suffice for most labs.

Pharmaceutical Data

The FDA’s Voluntary Exploratory Data Submissions programme (introduced in 2004 under the name Voluntary Genomic Data Submission Programme) continues to have a positive impact on drug and biologic development. The programme enables companies and the FDA to work in conjunction to better understand pharmacogenomics before regulatory standards are issued.

This informal communication, along with the agency’s policy of supporting adaptive clinical trials, helps companies to integrate genomics effectively into their product development. It also means that projects can be supported by data on the effects of biomarkers or genetic variation regarding the safety and efficacy of the treatment. Added to this, molecular information has found its way onto about 10% of product labels that inform or recommend molecular or genetic testing for optimal treatment.

Companion Diagnostics

Although no definitive guidelines have been published, regulatory agencies, including the FDA and EMA, have implied that they intend to clarify the legislative pathway by which companion diagnostics enter the market. Following the delay between the approval of the first therapeutic product with an accompanying diagnostic (Herceptin®) – which was approved six months before its diagnostic test (HercepTest®) in 2011 – the FDA released its Draft Guidance for In Vitro Companion Diagnostic Devices. This helps clarify the Agency’s intention to conduct simultaneous reviews of a drug and its relevant companion diagnostic, and outlines any conditions under which a targeted drug might be approved ahead of its corresponding test.

While logistical difficulties remain in the development of drugs and diagnostic tests, a defined process of regulatory approval is a significant step forward. The FDA has signalled its commitment to advancing personalised medicine with the creation of a Director for Personalised Medicine in the Office of In Vitro Diagnostics and Radiological Health, and has released a new report, Paving the Way for Personalised Medicine: FDA’s Role in a New Era of Medical Product Development, which outlines many of the developments and advances in this field.

Legislation in Practice

As the role of genetics in personalised medicine becomes more prominent, genetic privacy has become an increasingly important focus for debate. While the knowledge of a person’s susceptibility to disease can improve health and quality of life, it can also be used as a means to discriminate in the workplace.

Previously, protection against genetic discrimination was covered by an inconsistent network of provisions which were formalised in law. In 1996, the US Health Insurance Portability and Accountability Act attempted to control access to patient medical and genetic information, in order to limit its dissemination and misuse. However, the rules only applied to federally-funded institutions, and there remained questions concerning privacy protection with respect to employers and providers.

Over a decade later, in 2008, the US Genetic Information Nondiscrimination Act (GINA) was signed, explicitly prohibiting employers and health insurers from discriminating against individuals on the basis of their genetic risk factors. The law established groundwork for the safeguarding of genetic privacy and non-discrimination, and continues to increase public confidence that genetic information will not be used against patients. This has opened the door to greater participation in clinical research, as well as the acceptance of genetic information as part of medical records.

In November 2010, the US Equal Employment Opportunity Commission stepped in to strengthen the provisions outlined in GINA, and provide greater clarification over its interpretation. However, in response to the fact that GINA only protects against genetic discrimination within employment and health insurance, some US states have sought to improve protections themselves against discrimination in other areas. For example, in 2011, California signed the California Genetic Information Nondiscrimination Act, which protects citizens against genetic-targeted discrimination in housing, employment, education, public accommodation, health and life insurance, mortgage lending and elections. Similar legislation has been introduced in Massachusetts and Vermont, and more states look to follow suit.

Two further pieces of legislation have addressed the issue of discrimination on the basis of wider patient health concerns. The US Affordable Care Act of 2010, also referred to as ‘Obamacare’, established guaranteed issue over healthcare, prohibiting health insurers from discriminating against claimants with genetic diseases by refusing coverage on the basis of ‘pre-existing conditions’. Added to this, the Americans with Disabilities Act prohibits discrimination within employment, public services, accommodations and communications based on disability.

Combined Approach

The demand for privacy protection and the need to encourage research must be effectively balanced to enable medical care to continue improving. As technology takes the lead in delivering effective and practical applications of genome sequencing, it is likely that soon we will have significantly more information than we are able to act upon. In response, actions will have to be taken by all sectors of the healthcare spectrum, across areas as diverse as patient education, R&D incentives, reimbursement and intellectual property.

When it comes to regulation in particular, in order to reap the benefits of personalised medicine, policy-makers must create an environment that encourages investment in diagnostics and targeted drugs, enables the safe and reliable advancement of patient care, and establishes a viable pathway to patient access.

Note: This article is a summary of the Personalized Medicine Coalition’s paper The Case for Personalized Medicine, 4th edition, 2014. To read the full paper, visit: userfiles/pmc-corporate/file/pmc_the_case_ for_personalized_medicine.pdf

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Emma Naks
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