Ethical, Legal and Social Implications of Human Genomics

The pharmaceutical industry is showing increasing interest in pharmacogenomics; similarly, governments, regulatory and advisory bodies in some countries are demonstrating a greater attention to this promising area of research. There is also a similar growth in the understanding and ability to appropriately address the ethical, legal and social implications of pharmacogenomics. It is a field in its infancy; while evidence to data suggests reason for optimism, so far there are few applications in practice. In particular there is a lack of evidence on its impact in the context of developing countries. The complexity of human responses to medicines makes it cautious not to overestimate the probable impact of pharmacogenomics.

It is important to consider the extent to which pharmacogenomics might contribute to the further marginalisation of individuals’ whose conditions and genetic peculiarities put them in the minority of patient populations. On the basis of genetic criteria, some conditions may be neglected as drug manufacturer’s focus on developing those therapies that impact on the greatest proportion of the population. Broad pharmacogenomics programmes may require obtaining extensive genetic information, which raises concerns about the appropriate protection of patients’ privacy and confidentiality. Moreover, the targeting of specific populations may result in the unfair discrimination against some groups. For instance, pharmacogenomic knowledge could be linked with specific racial or ethnic indicators, making it tempting to assume a biological linkage between race and responsiveness to particular medications, which could lead to inappropriate decisions about treatment.

Pharmacogenomics will need to be carefully evaluated by countries to determine its effectiveness, including its cost-effectiveness, compared to existing public health measures. It will also be important, if pharmacogenomics is to be effectively integrated into clinical practice, to educate both the public and health professionals about its basic principles, its benefits and limitations. Much of the information provided by pharmacogenomic tests will be probabilistic. Effective communication between physicians and patients about risk will be crucial, to ensure informed discussion about appropriate treatment decisions. Its integration into clinical medicine needs to take into account questions of equity and fairness, and should be accompanied by appropriate regulatory structures that ensure that patients’ privacy and confidentiality is protected.

Pharmacogenomics is one of the fields in which the Food and Drug Administration (FDA) seems to have a large potential to influence the safety and efficacy of drugs, by translating the knowledge on this into regulatory actions like drug labels. To provide guidance to the industry, a final 'Guidance for industry: pharmacogenomic data submissions' has been published by FDA. It also offers a new submission path called 'voluntary genomic data submissions', to encourage sponsors that are using pharmacogenomics in exploratory research to submit such information for early discussion with the FDA, but without regulatory implications.

Pharmacogenomics can make current and future drugs safer and more effective, by targeting them to patients who will benefit the most from them. Only one-third of clinical trials incorporate pharmacogenetics. Significant effort is needed, to educate different health care professionals, about the logistics and benefits of using genetic and genomic information to individualise drug therapy.