The Role Of Law In Regulating Genomics

From the inception of the mapping of the human genome in 1986, science and technological advancement has triggered a rapid growth in the level of understanding and use of gene codes of living organisms; in plants, animals and humans. This degree of growing knowledge has been utilized in the preservation, editing and sharing of genetic information for the purpose of research in the consumer relational world; however, the ills in this process especially the ethical questions and challenges of the manner in which information can be acquired, shared and disseminated without legal regulations and the stance of the law on the issue of privacy and confidentiality in relation to how organisations or persons collate genetic blueprints of individuals have been a matter of deliberation in different countries, as some have not even noted this arising matter to be an issue of concern especially in Lower-Middle Income Countries. This research seeks to give an appraisal on the historical background, branches and issues of genomics, giving attention to the role of law in the regulation of its influx in some African States.

Introduction

Genomics is a relatively new discipline. Albeit the DNA was first separated as early as 1869, it took more than one century for the first genomes to be sequenced. The foundation of present-day genomics started in the 1970s, be that as it may, simply because of essential disclosures made in the field by a small group of scientists in the period after the Second World War. Present day genomics would not be conceivable without the technological advances in the 1950s such as creating isotopes and radiolabel biological molecules, while the greatest breakthrough was most certainly the description of the structure of the DNA helix that was made by James D. Watson and Francis H. C. Crick in 1953.

An online Encyclopedia refers to Genomics as‘…an interdisciplinary field of science focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes. In contrast to genetics, which refers to the study of individual genes and their roles in inheritance, genomics aims at the collective characterization and quantification of genes, which direct the production of proteins with the assistance of enzymes and messenger molecules.’

The science of genomes only within the previous couple decades have scientists advanced from the examination of a solitary or few numbers of genes at once to the investigation of thousands of genes, going from the study of the units of inheritance to the investigation of the whole genome of an organism. The science of the genomes, initially dedicated to the determination of DNA sequences, has expeditiously extended toward a more practical level - studying the expression profiles and the roles of genes. The introduction of genomics has introduced novel methods of doing science, in light of benefits of sharing and reuse of data and samples.

Definition of key terms

• Genomics: a branch of biotechnology concerned with applying the techniques of genetics and molecular biology to the genetic mapping and DNA sequencing of sets of genes or the complete genomes of selected organisms, with organizing the results in databases, and with applications of the data (as in medicine or biology).
• Genome: the complete set of genetic material of a human, animal, plant, or other living things.
• DNA: The full meaning of DNA is Deoxyribonucleic acid. It is one of two types of molecules that encode genetic information. The other is RNA. In humans DNA is the genetic material; RNA is transcribed from it. In some other organisms, RNA is the genetic material and, in reverse fashion, the DNA is transcribed from it.
• Cells: Cells are the basic unit of life. In the modern world, they are the smallest known world that performs all of life’s functions. All living organisms are either single cells or are multicellular organisms composed of many cells working together.
• Genetic code: The genetic code is the code our body uses to convert the instructions contained in our DNA the essential materials of life. It is typically discussed using the “codons” found in mRNA, as mRNA is the messenger that carries information from the DNA to the site of protein synthesis.

Research areas in genomics

In the course of studying and practicing genomics, there are various areas that a chemist or a physicist would delve into. These main genomic research areas discovered are the human genomics, metagenomics, bacteriophage genomics, cyanobacteria genomics and pharmacogenomics. Before scientists began to study the genomes of other species, only the human genome was present. It has however been seen that the study of other species genomes could also aid enhance human health and treat diseases and the advancement in these studies offered to ascend to specialization within the field of genomics hence, the exploration areas.

Human genomics

Human genomics centers on the utilization of genomic examination in all aspects of human health and disease, as well as the genomic analysis of unfavorable drug reactions, drug efficacy, and safety. Essentially, human genomics is keen on the application of genomic advances in a trial to understand various diseases that individuals faces, discover medications and treatments for these diseases and even as much as the side effects or reactions that these drugs could cause.

Metagenomics

Metagenomics is often referred to as environmental genomics and some even call it community genomics. This is often because it involves direct extraction and cloning of DNA from microorganisms that have been brought together or assembled. This study is essential because it is in clear view that uncultured microorganisms occupy vastly, the aggregate of organisms on the earth and metagenomics is a specialized advancement that facilitates study of the physiology and ecology of environmental microorganisms.

Bacteriophage genomics

In this study, bacterial viruses are collected and isolated. They will then be characterized by methods including electron microscopy and nucleic acid analysis. The genome DNA is purified and then sent for sequencing where the genomic sequence will be characterized. The molecular and computational devices will then be utilized to recognise ambiguities and furthermore close gaps and then the DNA sequence will be used to ascertain protein and RNA coding regions.

Cyanobacteria genomics

Standard genomic techniques require that there must be the sequencing of the axenic cultures which is a methodology that not only adds months or years for culture decontamination but even seems to be impossible for some cyanobacteria. Metagenomics, on the other hand, makes it cumbersome but makes it easier to obtain individual genomes through microbial consortia. This all means that for cyanobacteria, there is the genomics approach and the metagenomics approach and whilst the genomics approach is less cumbersome and slow, the metagenomics method is faster and more cumbersome.

Pharmacogenomics

This is basically the study of the manner at which the genes of a person will affect his response to a certain drug. Two people may have the same illness and take the same drug but there will always be a difference in the effect the drug will have on both people because of their genes. For this reason, the need to combine genomics and pharmacology which is the science of drugs in order to develop safe medications and doses that will be perfect for that particular person’s genetic makeup. This field is still in its infant stage and so has a lot of limitations, this study is also undergoing a lot of clinical trials in order to improve its function. It tries to tailor drugs such that they would be able to treat a wide range of health problems that seem impossible to cure right now such as HIV/AIDS, cancer, asthma etc.

Issues raised by genomic researches

The genomic research is faced with three key ethical issues, one in which is the protection of the interest of research participant, regulation of international collaborative genomics research and protecting the interests of scientists in low-income countries. Other issues include sample exports and ownership, concerning the use of samples that have been archived and also about the complexity of unmistakably reviewing large international projects.

1. Protecting the interests of research participants

The genomics research brings about important ethical challenges in the course of the recruitment to participate regardless of where the research is being conducted, the participants in the lower income countries are made to face poverty hereby having limited access to the healthcare services, education and other essential resources that would boost the effectiveness of the society. The carrying out of research presents challenges of a different order to the people who reside in countries that have higher income.

2. Community engagement

Another major practical issue on the basis of community participation in genomics research is concerned with how to interpret to communities on what the study involves in ways that are easily accessible and reachable particularly challenging is the fact that most of the reasonable benefits of genomics research relate to populations instead of individuals. It should be noted that scientific researchers should not be expected to face these issues alone, however constructive collaboration is necessary with other knowledgeable ethics structures and processes in local regions.

3. Valid consent

The challenges in obtaining valid consent for genomic research includes in its range the potential to be observant and informative about people other than the research participant. The major topic of privacy protection for individual research participants in genomics studies has been discussed whereby personal identifiers are being removed from the occurrences of genomic datasets there may be highly limited to the risk of participant identification. A key strategy of genomic studies, for instance, the Malaria GEN study, is the comparison between children that are ill with malaria cases and hale and healthy children. The collective results of both types of samples raised issues with regards to the consent given. For instance children presented at the hospital where most of the times often ill and they needed an action of immediate medical assistance. The timing of consent in this emergency occurrence presents an actual challenge in this case. On the other hand, the genomic study requires the collection of blood samples from healthy children as this also constituted important challenges for the Malaria GEN study. The hardships and complexities of settling these issues were to such an extent that further observational research was conducted at two Malaria GEN research sites, with the aim of investigating how best to obtain consent for genomic research in low-income countries.

Another key challenge for genomics research conducted in populaces with low income and educational levels is how conditions can be developed under which it is feasible for researchers and research ethics who happen to commit confidence that samples and data will be used appropriately and that the decision-making process is sufficiently transparent. It was said that in Malaria GEN, the export of samples is found to be a stumbling block for ethics committees as the committees required detailed information on the need to export samples, also the descriptions of the exact sample handling and specific material transfer agreements describing in detail the nature of the work to be carried out in foreign laboratories.

Case study – Africa

In most countries, in response to fears of abuse, the export of genome tests outside of the region is strictly regulated, sometimes in conjunction with regulations around international collaboration. While an essential and critical component of ensuring ethical best practice in genomics research relates to the governmental administrative framework that accompanies sample and data sharing, this was most sparingly covered in set-down laws. However, the African continent is lacking from essential guidelines to combat the issue of exploitation of genome data as well as other unethical issues that may occur under the guise of “emergency health crises”. There is a need for laws to guide genomic research ethics in African countries so as to adapt to the changing science policy landscape, which progressively bolsters standards of openness, storage, sharing, and secondary use. Current laws on privacy are not pertinent to the ethical challenges that such a new orientation raises, and therefore fail to provide or address an accurate standpoint or guidance to ethics committees and researchers. The introduction of genomics to the African research settings through mediums such as H3Africa, 1000Genomes, and MalariaGEN has at the same time presented some of the ethical difficulties associated with it. Underlying such research is a shift in the manner in which research is conducted, towards greater openness, sharing of resources, a collaboration between scientists from over the world, and re-use of samples and data for auxiliary research. This shift has introduced a requirement to reconsider some of the key ethical principles and practices of health research. Identified with this shift is a noteworthy focus on considering the governance or enactment of laws to regulate the inflow and outflow of scientific resources, for instance through data sharing policies that promote the ethical best practice.

During a research by the BioMed Central Medical Ethics committee in assisting H3Africa researchers to navigate the landscape of ethical regulations, guidelines and ethics review across the continent, it became clear that African regulation is either absent, outdated, conservative or difficult to navigate. Some African countries fail to document how they address issues of confidentiality, import/export of samples, secondary use of samples and informed consent. Of the countries included in the analysis, only Malawi, Nigeria (Section F of the National Code of Research Ethics) and South Africa had specific national or local guidelines for genomic research. Malawi and Nigeria both had national guidelines published as addendums to the National Health Research Ethics Guidelines. The Malawian addendum focuses on human genetic research, whilst the Nigerian addendum focuses on the storage of human samples in biobanks.

It was therefore deduced that the role in which the law through enactments which are clear and in sync with the dynamic nature of the scientific world to effect proper ethical regulation or guide in genomic research are encompassed on these issues:

1. The issue of Consent.
2. The issue of Storage and Re-use of samples.
3. The issue of Export of samples.

Consent

There appears to be increasing global acknowledgement and acceptance for broad consent to be the ‘best compromise’ consent model to promote the sharing of scientific resources, balancing patient inclinations, participant protection, and the utility of data and samples that are gathered. Particularly for genomics research, some work has gone into exploring whether and when the use of broad consent is ethical, both internationally and in Africa specifically. Being the pillar of ethics regulation of health research worldwide, it is hardly surprising that informed consent was discussed in all the documents reviewed in the research by the BioMed Central Medical Ethics.

Research shows that individuals who test positive to Huntington’s disease have a higher risk of getting depressed and committing suicide. Also, people who test negative to this disease (i.e. the risk factor is not present) have a higher risk of psychological complaints as a consequence of the stress of testing. For these reasons, informed consent before testing and good counseling during the testing process is of great importance. Also in relation to this right, a medically necessary treatment, imposed without informed consent of the person concerned, does not automatically result in a violation of autonomy and thereby the right to private life. The protection of the health of the individual concerned or the rights and freedoms of others can be a justification for treatment without informed consent.

Finally, the enactments for Nigeria, Ethiopia and Rwanda specify that broad consent can be used for the gathering of samples for future use, but leave it up to ethics committees to decide on the appropriateness of the consent models proposed in research. Nigeria is the only country hat specifically mentions and allows ‘broad consent’, which is defined as “consent in which the type or purpose of research is defined in broad terms and for a work that is not specified by time”. On the contrary, blanket consent, which is defined as consent “in which the type or purpose of the research is not defined in any way and does not restrict the use of donated specimen to any type of research” is not allowed.

Storage and re-use of samples

Whilst sample storage is allowed in all countries (explicitly or implicitly), only few countries offer specific guidance on the timeframe for storage. In Zambia, samples can only be stored for a period not exceeding 10 years and permission is required for storage longer than 10 years. Samples can only be stored in designated research facilities. In Malawi, samples cannot be stored for more than 5 years. Research specifically aimed at storing human biological materials for future research or retrospective genetic analysis is not allowed in Malawi. Guidelines from Zimbabwe describe that extraterritorial storage of samples beyond the study period is not allowed. It is not clear how the national regulator ensures compliance with this provision. In Botswana, Ghana, Ethiopia, Rwanda, Uganda, Kenya, Nigeria, Senegal, Sudan and Tanzania, re-use of samples requires approval from an ethics committee. The other countries are silent on whether ethics approval is required for re-use.

Export of samples and international collaboration

In contrast to provisions around sample storage and reuse, the export of samples is rather firmly controlled in many African countries. The rules from ten countries offer unequivocal direction for the export of samples, and in all of these countries researchers require endorsement or approval from one or more national agencies, for instance from a national ethics review body (Ethiopia, Lesotho, Nigeria and Rwanda); from a national regulatory authority (Botswana, Malawi, South Africa and Zambia); from a Ministry of Health (Cameroon and Zambia); or from a national body for health research, medical research or for science and technology more broadly (Kenya, Uganda and Zimbabwe).

Conclusion

There is the need for proper regulation of genomics by the law in different countries. The absence of extensive and clear enactments for genomic research in Africa is not centered only on genomic research but biomedical research too. It should be noted that majority of countries are yet to fully develop a standard working mechanism for their research ethics committees while a couple of countries do not have existing rules for health research despite ongoing research in these countries.

One shaping characteristic of genomics research is the sharing of resources, together with samples and data, for secondary use globally. An important and necessary component of ensuring that secondary use is aligned with ethical principles and best practice is in regulating secondary use through the law and it will remain problematic if data and sample sharing is not properly regulated to avoid any sort of unethical misconduct in the use of samples. The government of different countries ought to thus make sure that legislative enactments are passed for the best interest of the citizens so as the guarantee their health-services use protection and ensure maximum health security.