BioGenome

'Ethical, legal, and social issues in the Earth BioGenome Project' by Jacob S Sherkow, Katharine B Barker, Irus Braverman, Robert Cook-Deegan, Richard Durbin, Carla L Easter, Melissa M. Goldstein, Maui Hudson, W. John Kress, Harris A. Lewin, Debra J H Mathews, Catherine McCarthy, Ann M McCartney, Manuela da Silva, Andrew W Torrance, and Henry T Greely in (2022) 119(4) PNAS e2115859119 comments 

The Earth BioGenome Project (EBP) is an audacious endeavor to obtain whole-genome sequences of representatives from all eukaryotic species on Earth. In addition to the project’s technical and organizational challenges, it also faces complicated ethical, legal, and social issues. This paper, from members of the EBP’s Ethical, Legal, and Social Issues (ELSI) Committee, catalogs these ELSI concerns arising from EBP. These include legal issues, such as sample collection and permitting; the applicability of international treaties, such as the Convention on Biological Diversity and the Nagoya Protocol; intellectual property; sample accessioning; and biosecurity and ethical issues, such as sampling from the territories of Indigenous peoples and local communities, the protection of endangered species, and cross-border collections, among several others. We also comment on the intersection of digital sequence information and data rights. More broadly, this list of ethical, legal, and social issues for large-scale genomic sequencing projects may be useful in the consideration of ethical frameworks for future projects. While we do not—and cannot—provide simple, overarching solutions for all the issues raised here, we conclude our perspective by beginning to chart a path forward for EBP’s work. 

The Earth BioGenome Project (EBP) is an audacious endeavor, an attempt to obtain whole-genome sequences from specimens of every eukaryotic species on Earth—land, sea, sky, or underground. We know of about 2 million such species ranging in size from the blue whale to a single-cell plankton in the class Mamiellophyceae; it is estimated that about another 7.5 million currently unknown eukaryotic species exist. The knowledge generated by EBP may “lead to new food sources, revolutionary bio-inspired materials, and innovations to treat human, animal, and plant diseases”. Also, “[i]f successful, the EBP will completely transform our scientific understanding of life on earth and provide new resources to cope with the rapid loss of biodiversity and habitat changes that are primarily due to human activities and climate change”. 

The scientific and technical problems of finding, sampling, sequencing, databasing, and analyzing these eukaryotic genomes are enormous, but so too are the ethical, legal, and social challenges associated with the project. This perspective highlights and categorizes many of the ethical, legal, and social issues currently confronting EBP and suggests a path forward. At the same time, we recognize that the problems inherent in the complexity of interests in a project like EBP are myriad, that solutions to some of these issues may be controversial or currently unavailable, and that resolving disputes over individual sequencing projects will likely require further input, not only of EBP and its members but also the broader public as well. It is nonetheless our belief that these problems can be managed well enough to enable EBP to proceed—and to succeed—equitably and fairly for all of humanity and the biosphere. 

Legal Issues 

EBP’s goal of sequencing representatives from all extant Eukarya raises a number of significant international and national legal challenges. These concern basic legal obligations on the part of researchers, such as proper sample collection and permitting, but also more complex requirements, such as the Nagoya Protocol’s requirements regarding access and benefit sharing (ABS) for the utilization of genetic resources. Beyond these obligations, EBP and its member projects face difficult questions pertaining to rights and responsibilities regarding intellectual property (IP), sample collecting practices, accessioning rules for collected samples, and biosafety and national security restrictions. ... 

Sequencing a genome often requires a tissue sample from the species, and most countries have regulations governing the collection of biological samples for research. EBP’s work, by its nature, is international in scope; a great number of species are endemic to only a single country or very few. This means that EBP researchers, at least today, are frequently tasked with collecting samples in one jurisdiction and preparing and sequencing them in another. As discussed later in this paper, fostering the sequencing of species in the country in which they are found is a future project goal. 

Many countries have biological permitting restrictions for engaging in species sample collection, some of which are the consequence of international treaties, while others are entirely domestic in nature. The Convention on International Trade in Endangered Species of Wild Fauna and Flora (CITES) is perhaps the best-known of such international treaties in this regard and regulates the import, export, and reexport of International Union for Conservation of Nature (IUCN)-listed endangered species and derived materials without prior permitting from their respective source countries. Beyond CITES, a number of other legal frameworks operate similarly, including the Migratory Bird Treaty Act (implementing separate conventions among Canada, Mexico, Japan, and Russia), the Marine Mammal Protection Act, and the African Elephant Conservation Act. 

Supranational jurisdictions, such as the European Union, have a host of similar limitations among their respective member nations. In addition, biological samples sourced from Antarctica, specifically, are subject to governance under the Antarctic Treaty System, which encompasses not only the Antarctic Treaty, which came into force in 1962 and now has 54 members, but also over 200 separate requirements, including those in the Protocol on Environmental Protection to the Antarctic Treaty. Marine samples have yet further sampling and permitting restrictions, governed in many instances by the United Nations Convention on the Law of the Sea (UNCLOS) or, in the special case of cetaceans, the International Convention for the Regulation of Whaling (ICRW). 

Some jurisdictions, meanwhile, have purely domestic permitting requirements for species of significant national interest, such as the United States Bald and Golden Eagle Protection Act, and yet others may institute special national permitting processes for foreign researchers regardless of the particular species to be collected. In addition, some permitting processes may include requirements pertaining to vouchering—requiring a third party to maintain an archetypal specimen in an accessible collection. 

Assessing compliance with this web of legal obligations is complex, but necessary, and EBP researchers will need to take a systematized, species-by-species, sample-by-sample, and jurisdiction-by-jurisdiction approach to ensure compliance with these laws. The costs, in terms of researcher time and effort, are likely to be nontrivial. Nonetheless, many of the protections instituted in the above laws were put in place precisely to avoid the exploitation of biological resources that is currently contributing to the global decimation of biodiversity. Others, meanwhile, are geared to share the benefits of biodiversity as a solution to extractive biocolonialism. A principal goal of EBP is to halt, if not reverse, the global decline in biodiversity; circumventing restrictions on sample collection, aside from being illegal, may be counterproductive in the context of creating benefits for society and human welfare.

Further

Data and DSI 

Woven throughout the issues raised above are complexities regarding the generation and sharing of the sequence data, known under the CDB and Nagoya Protocol as DSI. DSI, like all other digital material, is easily shared across borders. This complicates how DSI is, and should be, considered under the Nagoya Protocol’s ABS principles, and there are conflicting views regarding unrestricted access to genomic data and the rights and interests of nations, Indigenous peoples, and local communities to control such data. A meeting last year between representatives from the European Union and China summarized the potential conflict concerning DSI and Nagoya’s DSI requirements this way: “Open data [are] a key component of the smooth functioning of science globally. However, open access may restrict options to address benefit sharing and the challenge is to generate a different approach that maintains the efficiencies of the current model in delivering societal monetary and non-monetary benefits arising from activities within the current system”. 

Assessing whether this conflict is real or hypothetical lies in the details of any DSI sharing regime. Much of the difficulty lies in narrowly conceiving of the benefits contemplated as primarily arising from a “payment for data” regime, even while there are greater opportunities for collaboration around other value-generating activities. At the same time, there are models where open data have produced monetary rewards for its generators, such as providing data hosting, developing analysis tools, or selling derivative products from such data. One relevant example might be the establishment and support of local sequencing capacity within source nations currently deprived of it and furthering training in the area. The COVID-19 pandemic has demonstrated the need to expand sequencing capacity globally. Researchers from sequencing-capacity-rich nations whose sequencing efforts will primarily focus on source nations without such resources should commit to generating solutions for this gap in sequencing capacity. Depending on how they are deployed, open data and a call for benefit sharing may not be in conflict but such a result will require careful analysis of how to provide meaningful benefits.

Darkness

'The dark authoritarians: Profiling the personality, emotional style, and authoritarian attitudes of the major American parties' by Ryan Bird, Hayden Hickey Mackenzie, Joel Leavitt and Jennifer L Robinson in (2022) 186(B) Personality and Individual Differences 111298 comments 

Many are concerned that authoritarianism is increasing across the political spectrum. In the current study, we investigated the extent to which dark personality variables (i.e., psychopathy, narcissism, Machiavellianism) predict both right- and left-wing authoritarianism (RWA and LWA) between Republicans and Democrats. We developed profiles of individuals' political and personality characteristics concomitant with endorsement of authoritarianism. Our findings (n = 527) suggest a complex interaction between dark traits and political views. Using latent profile analysis, we uncovered underlying profiles characterizing distinct groups of individuals across party identification, LWA, RWA, and dark traits. Four latent profiles emerged: (1) a typical Democrat, low in dark traits and higher in LWA; (2) a typical Republican, low in dark traits and higher in RWA; (3) a dark Democrat, high in dark traits and high in both RWA and LWA; (4) a dark Republican, high in dark traits and high in both RWA and LWA. Together, these data suggest that authoritarianism manifests differentially across the political spectrum and is influenced by emotional style.

Sorting

'Social Norms in Selective Reproduction: Implications for the Wide Offer of Genetic Screening Technologies' by Ainsley J Newson in ELSIhub comments 

 The ability to offer genetic information to inform reproductive decisions, for example through reproductive genetic carrier screening, expanded prenatal testing, or preimplantation embryo screening, is increasingly prevalent. A defining feature of such technologies is that they offer information on many genetic conditions in the one test. Common rationales for expanding the offer of such information include that the results can inform people’s decisions regarding selective reproduction or prepare them to parent a child with a genetic condition. 

While it remains vital for providers to ensure that decisions about whether to undergo screening can be made autonomously, in alignment with one’s own values, focusing only on individual choice is deficient. It is also important that providers, policymakers, and bioethicists consider the social context in which such choices are offered and made, especially because these contexts and the norms they generate shape and influence individual choice, and such choices are going to become increasingly common. 

Scholars of disability theory and feminist philosophy have argued along these lines for a long time. But the importance of attending to social context and social norms when designing and implementing large-scale reproductive genetic screening interventions is now gaining wider attention. ... one can argue that it is imperative that those offering such testing emphasize that testing is a choice and ensure that people undertaking it can access clear and balanced information about the conditions (or groups of conditions) being screened for. It is also important for people to have the opportunity to critically reflect on the reasons they are having this testing and what they might do with the information they receive.

Papers in the particular ELSIhub collection consider 

• who gets (and should get) a say in describing disability and difference, how autonomy and responsibility are intertwined and sometimes at odds, 
• what the proper role of the state should be in testing (including how public health ethics can help us think about this), and 
• how we can reflect on and learn from eugenics practices, including the social risks that arise from a cumulative set of unfettered, private reproductive choices. 

Newson notes that the papers complement material in the ELSIhub collection (edited by Melanie Myers and Emily Wakefield) on Expanded Carrier Screening (ECS): Clinical and Ethical Considerations for Genetic Counseling.

NHS negligence and compensation

'The value of compensation', a report by the UK Association of Personal Injury Lawyers (APIL) as part of the House of Commons Health and Social Care Select Committee inquiry on NHS litigation reform, comments 

 The essential purpose of compensation is to, as far as possible, enable the person who has suffered from negligent medical treatment to get back to a ‘normal life’, i.e. the position they were in prior to the negligence occurring. The impacts of negligence are wide-ranging and include job loss, poor physical health, financial troubles, relationship breakdowns and a loss of self-identity and self-worth. Patients who have suffered negligent medical treatment may be able to take legal action against the NHS and claim compensation if it can be shown that the negligence has directly resulted in injury. Patients can take legal action on behalf of themselves or on behalf of their next of kin if that person doesn’t have capacity to pursue action themselves or has died as a result of the negligence. 

Compensation is split into three parts – general damages, that is compensation for pain, suffering and the detrimental effect on quality of life; special damages for past losses, that is compensation for upfront expenses related to the injury; and special damages for future loss, that is compensation for the loss of earnings in the future, or the loss of earning potential, and future care.  

Examples of clinical negligence include the healthcare provider:

• Failing to diagnose a condition or making the wrong diagnosis 

• Negligence during a procedure or operation 

• Administering the wrong drug 

• Failing to get informed consent for treatment 

• Failing to warn about the risks of a particular treatment

NHS organisations pay an annual premium to the Clinical Negligence Scheme for Trusts (CNST), an insurance scheme administered by NHS Resolution, to mitigate against the cost of clinical negligence claims. Typically, NHS Resolution represents the NHS when a patient takes legal action against the NHS and claims compensation. There are also other, more minor schemes which NHS organisations pay into to mitigate the cost of clinical negligence claims. 

At present Judicial College Guidelines for the Assessment of General Damages in Personal Injury Cases are used to determine the financial value of general damages. These guidelines place an upper limit on the amount of compensation that can be awarded for each type of claim. Every penny of special damages must be accounted for in a schedule of loss.

The report comments  

1. The consequences of NHS negligence are wide-ranging 

NHS negligence causes significant disruption to patients’ lives and to the lives of their family and friends. Peoples’ physical, emotional and financial health can be seriously affected by the injury caused through negligent care. With the help of compensation, some can recover from, or adapt to, the consequences of NHS negligence relatively quickly. However, compensation doesn’t always stretch to help with the longer- term effects of negligence, which many suffer from for the rest of their lives. When rapid recovery isn’t possible, people can fall into a spiral of decline. Financially, they face mounting debt; psychologically the pain and suffering can result in poor mental health, including depression. In the cases with the most serious consequences, the negligent act can become embedded in the patient’s sense of self-identity and self-worth. It’s not possible for people to return to the life they previously enjoyed when they have lost relatives unexpectedly or when the negligence has caused acute impairment. In these circumstances some find it difficult to see themselves as ‘more than’ the victim of the negligence. The fight for justice can become an all-consuming process. 

2. The injury caused by NHS negligence has both direct and indirect costs 

Direct costs are commonly associated with: • A reduction in household income • Increased expenditure due to the need to travel to appointments • Unexpected costs associated with increased living expenses • Direct costs of home adaptations or mobility aids Again, rapid recovery is key for mitigating against indirect costs associated with long-term unemployment and relationship breakdown. If patients are unable quickly to cope with financial  pressures, it can take a long time for their standard of living to return to ‘normal’. Some may never have access to the same financial opportunities they had before the negligent event. This in turn has a negative effect on their quality of life. 

3. Compensation helps people to rebuild their lives 

The role of compensation is multifaceted and serves to help people who have suffered injury because of negligent care get their lives back on track. Financially, it helps people to recoup expenses or loss associated with direct costs, and in doing so alleviates financial pressure. Functionally, it provides access to the private treatment or alternative therapies needed to aid physical recovery and mitigate against long term damage. When physical recovery is not possible, compensation helps people adapt to their impairment and provides access to home adaptations and mobility aids. In doing so it helps people regain independence and freedom. 

4. Private treatment is often a key factor in recovery 

Private treatment aids recovery, both physically and mentally. It includes treatments such as physiotherapy and acupuncture, which contribute to better mobility and dexterity, and corrective surgery, which helps in the rehabilitation process and in improving the patient’s condition. Having access to quality treatment quickly provides reassurance to those who feel like their life has been put on pause. 

5. Compensation can be an effective acknowledgement of what can’t be replaced 

On an emotional level, compensation can be perceived by the patient and/or their next of kin to be recognition of the injustice experienced. Families experience avoidable pain, suffering and loss as a result of negligence and it is important to acknowledge, and be empathetic towards, the real-life consequences felt by individuals. In a top-down institution, some patients feel there is a tendency to lose sight of the people affected by negligence. When a life has been lost, compensation can go some way towards honouring that person’s contribution and acknowledging the opportunities missed. For families to feel any sense of justice for the deceased, it is important that the NHS is held accountable and recognises the loss of life. 

6. Where negligence has caused uncertainty about the future, compensation offers reassurance 

Especially in cases where children are involved (either directly or indirectly), the negligence causes particular anxiety around potential long-term implications for the patient and their family, especially in relation to on-going health problems and financial stability. Compensation has a key role in providing a sense of security. Knowing that there are funds to fall back on for further treatment or to facilitate financial stability offers reassurance to patients living with unknown consequences. It is important for people to feel that they can protect their family against future disadvantage caused by the negligent act. From an emotional perspective, this is important as it allows people to feel they can move forward. 

7. The compensation awarded is ‘not life changing’, it simply helps people get back on track 

Patients place huge value on compensation because it helps them get back on track and recover from the negative fall-out that was caused by the negligence. Compensation does not provide the means for people to elevate their standard of living. It simply facilitates a ‘return to normal’, or an adaption to a ‘new normal’, post the negligent event. 

8. Compensation isn’t about shaming the NHS, but about recognition of wrongdoing 

Many patients mention their admiration and respect for the NHS and the work that they do, and some mention not feeling particularly happy at having to take action against them. However, it is considered important that negligence and wrongdoing are recognised and equally that these experiences are not repeated for others.