Biomedical research

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Ethics

In this section you find ethical issues surrounding medical genetics.

Courtesy to Roche
 

1. Genetics - Issues of Concern
2. Duality of Individual vs. Society: Autonomy vs Solidarity
3. Principal Elements of Ethical Conduct Concerning Genetic Data and Research
4. Autonomy: Respect for individual decisions
5. Beneficence: Requirement to provide benefits
6. Non-maleficence: Requirement not to harm
7. Justice: Requirement for equality
 


 
1. Genetics - Issues of Concern

There are two major aspects to the discussion about genetics in the public arena that are important to differentiate (although there are, of course, certain overlaps):

  • Genetic Data:

much like most any other medical data (and indeed not fundamentally different), genetic data, in conjunction with other information, may allow more precise prospective assessment of future health status.  This information may be beneficial for the individual if he/she decides to obtain it (autonomy), or may be used without direct benefit to the individual, but in the interest of society (solidarity), but may potentially also be (mis)used to the individual's disadvantage.

The discussion provided here will focus on this issue, with particular emphasis as it applies to common, complex disease.

  • Genetic Manipulation:

given the spectrum of powerful biotechnological and genetic engineering methods available today there are pragmatic (safety) and fundamental ("playing God") concerns among the public.  The ethical and societal questions and potential consequences arising from these possibilities are complex and manifold and will not be addressed here.

 

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2. Duality of Individual vs. Society: Autonomy vs Solidarity

The basic issue at hand concerning the use and handling of genetic data is, in essence, not different from one that is relevant to all health care delivery and research: the conflict, perceived or real, between the best interest of the individual and the best interest of society, or the community - the ying and yang of autonomy versus solidarity. 

Protection of individual rights and liberties may be at odds with the best interest of society at large, as in the case of compulsory immunizations or of quarantining an individual with a contagious communicable disease where societal interests override the principles of personal freedom and liberty.  It has been, and will forever remain, a fundamental dilemma of medicine, from primary care practice to public health policy administration, to balance these two conflicting interests wisely, with consideration, and with societal consensus.

With regard to genetic data, the discussion ranges from very general considerations all the way to very specific issues and from permissive to restrictive.  Thus, it has been argued that access to individual genetic data constitutes a legitimate interest of society - if we agree that such data is essential for further progress in health care - and even that keeping a "genetic fingerprint" of all citizens on file in forensic databases is in the interest of all. 

On the other hand, there is growing concern about assuring the individual's ultimate authority over his/her personal medical (and genetic) data, and about proper provisions that such information never be obtained unless the individual wishes so.

 

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3. Principal Elements of Ethical Conduct Concerning Genetic Data and Research

In 2003, the WHO Human Genetics Programme published a "Review on Ethical Issues in Medical Genetics" that was developed based on an earlier draft document entitled "Guidelines on Ethical Issues in Medical Genetics and the Provision of Genetics Services".  This document was circulated worldwide, and comments were received from all Regions and WHO staff. 

The fundamental theory underlying the principal recommendations is that the medical application of genetic knowledge must be carried out fitting to the general principles of medical ethics:

These principles, which have been outlined by WHO and other groups, are the same as in other medical fields.  They reflect the basic underlying principle that respecting the dignity of human beings is our most fundamental and noble goal. That they should be applicable to genetics is thus only logical, and should not be viewed as indicating any special status of genetics.

 

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4. Respect for Autonomy

Acknowledgement of the autonomy of each individual includes not only independent, informed decision regarding the procurement of personal genetic/medical information or participation in studies and trials (right to self-determination). 

It also extends to the assurance of confidentiality and privacy of the data procured in accordance with the individual's wishes, and the consideration of and compliance with personal, local, national and international standards, laws and customs. 

The call to respect autonomy refers with particular importance and sensitivity, to individuals with diminished autonomy due to personal, socio-economic, or other reasons. These individuals should neither be automatically included in studies, nor automatically excluded - either would constitute biased treatment and violate their rights and best interest, and run counter to the principle of justice. Rather, they need to be represented by special advocates who consider carefully the respective advantages and disadvantages of generating certain data and/or including them in trials and studies

 

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5. Beneficence

Gathering genetic (as well as any other medical) information should always, directly or indirectly, be aimed at the individual or societal benefit.  This applies to both research projects and to clinical testing. 

Thus, there ought to be some application or use of the information derived that will provide a benefit to the individual him/herself, or to his/her community (which may vary from as small as a family, to patients with a certain disease, to as large as humankind). 

In the case of medical research, it is important to understand that this benefit is often delayed, indirect, intangible, and that its magnitude is dependent on the accuracy and statistical power provided by the overall data collection. 

On the level of clinical testing of individual patients, it is important to understand the probabilistic nature of any clinical research results, e.g. that the presence of a positive test may well represent a false positive finding and therefore be biologically/pathologically irrelevant.

Some advocate that (genetic) information should be collected only for medical problems for which a specific treatment (or perhaps even a cure) is presently available.  A counter-argument to this, particularly with regard to common complex disease, is that even in the absence of specific disease-cause-targeting medical treatment our current epidemiological knowledge about environmental and life-style risk factors frequently provides an opportunity for intervention and prevention that may at least retard the onset or attenuate the severity of the illness. 

A more accurate estimation of future disease risk based on molecular-genetic parameters will also allow the implementation of a more risk-focused program of targeted disease monitoring and health maintenance.

Performance of such predictive tests must rely strictly on the patient’s explicit will and interest, and must never be performed otherwise.  However, if a patient's disease risk can be meaningfully predicted based on any number of parameters - environmental, complex medical, as well as genetic - whose validity has been established by peer-reviewed research, then he/she must indeed be granted access to such knowledge if so desired (unless - as frequently practiced in the initial investigational evaluation of the actual meaning particularly of genetic parameters - such access has specifically been waived in the informed consent).

Beneficence requires access to data
It is essential to understand, however, that if beneficence is to be realized from genetic as from any other medical information, this information will need to be communicated at least among a limited number of parties involved in the individual's heath care, thus "compromising" the degree of privacy afforded to this information, and reducing it to "relative" confidentiality.

 

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6. Non-Maleficence

No harm must arise to the individual or the community from the procurement of genetic (medical) information.  The fundamental principle of medical practice: primum non nocere (first, do no harm!) is as paramount here as it is everywhere else.
 

Protection from Maleficence
Concerns have been raised in the public about the possible use of genetic information by some stake-holders (specifically by insurance companies and employers), in a manner perceived as discriminatory or exploitive, and harmful to less fortunate members of society who may be at a higher risk for certain diseases.

In common, complex diseases we do not expect substantive difference between "genetic" and "conventional" tests regarding their probabilistic nature and their generally modest accuracy in predicting future health outcomes. Therefore, these concerns are probably exaggerated, and the envisioned discrimination is unlikely to be a real issue.

To the extent to which such concerns exist, however, they should logically apply to all medical tests, not only to "genetic" tests. It is worth considering whether approaches to address and manage them should therefore include a broader range of "private medical information".

To prevent uses of medical information that would harm the individual will require that similar emphasis as is currently placed on the protection of the data (such emphasis has clear inherent limitations) be dedicated to the protection of the person, such that data can safely be released and used to the patients benefit.

Establishing the principles of such protection will require an ongoing dialogue among all stakeholders, including patient advocacy groups, health care providers (such as physicians, nurses, pharmacists), the health-insurance industry, ethicists, politicians, government representatives, and health care companies.

They should jointly find consensus on what uses of medical information should be recognized as providing individual and societal benefits, and what uses should not be allowed. 

Such consensus will define best practice principles, ensure high ethical standards, and - by actively protecting the individual patient - will help allay concerns about possible misuse of medical data.
 

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7. Justice

The use of genetic and medical data, and the conduct of genetic and medical investigation must be governed by the principles of treating individuals with fairness and equity, and distributing the benefits and burdens of health care (including research) as fairly and equitably as possible in society.

This relates to the principles of autonomy vs. solidarity, and relates to certain other aspects, such as protection and access.

The overall goal is to generate and use the information in a way that fosters and enhances social harmony and cooperation.  Because of the inherent possibility that genetic or medical data may actually be used to achieve the opposite of justice, society must provide sufficient protection to its members to prevent this.
 

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This text was adapted from the Roche Genetics Educational Program.

Website: Websteen